Nephrotic syndrome type 1

Most children with nephrotic syndrome type I will require a kidney transplant. This gives children the best chance of a normal or near normal lifespan. Usually, the new kidney can perform without problems and stops the massive loss of protein that characterizes nephrotic syndrome type I, and the disease will not recur in the new, healthy kidney.

Sometimes, in very rare instances, nephrotic syndrome has developed in the new kidney. This is because the body produces antibodies that target nephrin. Nephrin is a protein that people with nephrotic syndrome type I are missing. The new kidneys produce nephrin, but the protein is mistakenly attacked by antibodies. Antibodies are specialized proteins that protect the body from foreign substances. This means that when nephrotic syndrome occurs in the transplanted kidney, the underlying cause is different from why it occurs in the person’s original kidney. Doctors are not sure why this happens. This appears to occur most commonly in people with a Finn major or minor mutation in the NHPS1 gene, which occur overwhelming in Finland. If the disease does recur because of the immune system attacking nephrin, doctors may recommend treatment with a combination of drugs called methylprednisolone, cyclophosphamide, and plasma exchange alone or combined with Rituximab.

Nephrotic syndrome type I is a genetic condition and there is no cure. A person will never outgrow the disorder. Many children will undergo a kidney transplant. The disease can recur in the new kidney, although this has primarily occurred in people with the Finn major or Finn minor mutations of the NHPS1 gene and is an extremely rare occurrence. These two mutations are very common in Finland, but very rare anywhere else. A kidney transplant may allow people with nephrotic syndrome type I to have a normal or near normal lifespan. People who undergo a transplant must take certain medications for the rest of their lives. The National Kidney Foundation has information about a care after undergoing a kidney transplant.

Support groups can put you in contact with other people or families that have nephrotic syndrome type I. Support groups for nephrotic syndrome type I include NephCure Kidney International in the United States. In the United Kingdom, there is the Nephrotic Syndrome Trust or NeST.

There are also many organizations that deal with all types of kidney disorders including the National Kidney Foundation and the American Association of Kidney Patients in the United States and the Kidney Foundation of Canada or Kidney Care UK.

There are also online communities for rare disorders such as RareConnect, RareShare, or Inspire, which allow individuals and parents to share experiences and advice about dealing with rare disorders.

For some families or individuals, the medical costs of nephrotic syndrome type I can be significant. Some families lack the resources necessary to provide for a chronically ill or disabled child. Some individuals may find it difficult to deal with the financial costs of their disorder. Families or individuals may have trouble finding or affording health insurance. There are several organizations that provide financial assistance.

The American Kidney Fund is an organization dedicated to helping patients on dialysis afford their care.

The Patient Advocate Foundation is a national, nonprofit organization that provides professional case management services to Americans with chronic, life threatening and debilitating illnesses. PAF case managers serve as active liaisons between the patient and their insurer, employer and/or creditors to resolve insurance, job retention and/or debt crisis matters as they relate to their diagnosis also assisted by doctors and healthcare attorneys.

The Social Security Administration provides disability benefits for people who qualify. Tuberous sclerosis is not listed in the publication called the Disability Evaluation Under Social Security, also called the "Blue Book." However, some people with tuberous sclerosis may have specific symptoms that do qualify.

NephCure Kidney International may be able to offer advice about applying for disability in the United States.

The National Organization for Rare Disorders has links to organizations that can provide financial assistance.

The National Human Genome Research Institute has extensive information on finding financial aid for medical treatment and services.

Taking care of someone with a long-term or chronic condition can be tiring and challenging and this is no different for parents or other caregivers of people with nephrotic syndrome type I. If you are a caregiver in need of support, try to take time for yourself, set aside time for personal counseling, or look for other resources at the Caregiver Action Network. This organization works to improve the quality of life for people who care for loved ones with chronic conditions, disabilities, disease, or the frailties of old age.

Some organizations offer respite care. Respite care is when an elderly, handicapped, or ill person is temporarily put into a hospital or care center to provide relief so that the parents or other caretakers can take time to care for themselves. The Access to Respite Care and Help (ARCH) National Respite Network and Resource Center provides information about respite care and a locator service that can find respite care in your local area or state-run programs. The Children’s Respite Care Center provides comprehensive services and family support for children with special medical, developmental, cognitive and behavioral problems.

Support groups can also help provide support and advice for caregivers. Support groups for nephrotic syndrome type I include NephCure Kidney International in the United States and Nephrotic Syndrome Trust or NeST located in the United Kingdom. The National Kidney Foundation and the American Association of Kidney Patients in the United States, the Kidney Foundation of Canada, and Kidney Care UK are umbrella organizations. They represent many different kidney disorders including nephrotic syndrome.

Rare diseases like nephrotic syndrome type I can benefit from a multidisciplinary approach. This approach involves healthcare professionals with specialized skills and expertise. They work together to make treatment recommendations and to provide quality care of individuals and families. Depending upon the specific symptoms in an individual multidisciplinary team may require a pediatric metabolic disease specialist; a kidney disease specialist (nephrologist) who can assess and treat symptoms affecting the kidney; a heart specialist (cardiologist) who can assess and treat symptoms affecting the heart; a blood disease specialist (hematologist) who can assess and treat symptoms affecting the blood; a transplant surgeon who can perform a kidney transplant; and a genetic counselor who can help people understand the disease and the implications for the person and other family members.

Talk to your doctor about the best specialists in your area to follow an individual with nephrotic syndrome type I.

Nephrotic syndrome type I is a rare kidney disorder. How severe the disorder is and how it affects a person can be different. It is difficult to make broad statements about prognosis or life expectancy because every person is unique. Usually, the symptoms of nephrotic syndrome type I begin at birth or within the first year of life. Kidney function will get progressively worse and children often require a kidney transplant sometime between 2 and 8 years of age. Nephrotic syndrome type I can be fatal during infancy or early childhood. A kidney transplant, when successful, can allow people to have a normal or near-normal lifespan. As with any transplant, the transplant organ may fail because the body rejects it. Doctors are studying many new ways to treat nephrotic syndrome. There are several drugs being studied and it is possible that new therapies will be offered in the coming years.

Nephrotic syndrome type I is a rare inherited kidney disorder. It is also called congenital nephrotic syndrome of Finnish type because it has occurred most frequently in Finland. One of the main jobs of the kidneys is to filter excess water and waste products from the blood to be carried from the body in the urine. In nephrotic syndrome type I, the kidneys do not function properly; they allow protein to leak out. Usually, infants lose massive amounts of protein through the urine. The body responds to this abnormal loss of protein by retaining water. This leads to swelling because of fluid buildup in various parts of the body; this is called edema. The loss of protein can occur before birth and most infants are born prematurely. Infants also lose blood cells. They also lose antibodies, which are specialized proteins that help the body fight off infection. Because they lack the normal number of antibodies, infants and children are prone to developing repeated infections. They are also prone to developing blood clots in the body. The growth and development of infants and children is slowed and remains slowed despite treatment. They may need a feeding tube during infancy to ensure they get enough nutrients and calories. Nephrotic syndrome type I is a serious disorder and can be fatal in the first years of life. Kidney function usually continues to worsen until the kidneys fail completely. This is called end stage renal failure and will require a kidney transplant to fix. Even with treatment, most infants or children will require a kidney transplant.

Nephrotic syndrome type I is caused by gene changes in the NPHS1gene. People have about 20,000-25,000 genes in their bodies. Our genes contain our body’s genetic information, called DNA; genes are segments of DNA found on chromosomes. Genes are inherited from our parents and passed on to our children. Genes are like our body’s instruction manual – they control the growth, development and normal function of the body. Genes produce specific proteins that the body needs to grow and work properly. When there is an unexpected change in a gene, the protein that the gene produces may be absent or not work properly or be overproduced.

To find a medical professional nearby who can discuss information about gene changes in nephrotic syndrome type I, a listing of medical geneticists can be found at the American College of Medical Genetics and Genomics website and genetic counselors can be found on the National Society of Genetic Counselors website in the United States, and in Canada at the Canadian Association of Genetic Counsellors website.

Nephrotic syndrome type I is caused by a change (variant) in the NPHS1 gene. Not all changes in a gene necessarily cause disease. If a change is known to cause nephrotic syndrome type I, it is known as a pathogenic or disease-causing variant. Sometimes gene changes are found and scientists are unsure what it means, either because it has not been found before or has only been found in a few people. This is known as a variant of unknown significance. If your child has a variant of unknown significance in the NPHS1 gene, talk to your doctor about further testing that may help find out whether the gene change is pathogenic or not. A genetic counselor may also be able to help you review your test results. Genetic counselors can be found on the National Society of Genetic Counselors website in the United States, and in Canada at the Canadian Association of Genetic Counsellors website.

It is important that children and adults with nephrotic syndrome type I and parents of children with the disorder receive psychological support. This means that they should receive help for any psychological or social problems they may have. Nephrotic syndrome type I can cause children to feel different from their friends and can lead to feelings of isolation, anxiousness, depression and frustration. They may struggle with low self-esteem and making and keeping friendships.

These are normal feelings for individuals and families dealing with a chronic illness. Talk to your doctor and medical team about how to deal with such issues. It is also beneficial to talk to other people and families that are dealing with the challenges of nephrotic syndrome type I. There are several support groups for nephrotic syndrome type I that provide advice and support and help bring people with nephrotic syndrome type I together. These groups include: NephCure Kidney International in the United States and Nephrotic Syndrome Trust or NeST located in the United Kingdom.

When infants and children have a chronic disorder like nephrotic syndrome type I, it demands a lot of time and focus from parents. As with similar disorders, healthy siblings can sometimes feel as if they have been pushed aside. Although studies have shown that siblings of children with chronic illness tend to develop strong levels of compassion and empathy, these studies have also shown that siblings can develop feelings of jealousy, anger, and high levels of anxiety. Parents can work with siblings by having clearly defined roles and responsibilities within the family structure. Siblings can help with the care of their sick sibling. Parents are encouraged to make time for activities, especially for healthy siblings, and to talk with and encourage healthy siblings to address their concerns and feelings. Some children may benefit from support outside of the immediate family including therapists or doctors. The Sibling Support Project is a nonprofit organization that serves the concerns and needs of siblings of people with special health, developmental, and mental health needs.

Nephrotic syndrome type I is a rare kidney disorder. Symptoms usually begin in the fetus during pregnancy or in infants within the first 3 months of life. Many infants are born prematurely. Their kidneys do not function properly and they allow proteins to leak out and be carried from the body in the urine. The medical term nephrosis may be used to describe protein loss and poor kidney function. The body responds to losing protein and poor kidney function by retaining fluids. This leads to swelling in the body called edema. Fluid commonly builds up in the abdomen. This is called ascites and causes the belly to swell.

These infants will urinate less often than other children. Their growth and development is slowed greatly, sometimes even after treatment. Infants may have poor appetites and may require a feeding tube to ensure they get enough nutrients and calories. They are susceptible to infections like repeated respiratory infections because these lose antibodies, a specialized protein that helps the body fight off infection. Infants may have hypotonia. This means they have low muscle tone and can be floppy similar to a rag doll. Some infants may have cardiac hypertrophy, which is when the heart muscle thickens.

Infants usually have high levels of protein in the urine (proteinuria) and low levels of a protein called albumin (hypoalbuminemia) in the blood. Some infants will have high levels of cholesterol in the blood (hyperlipidemia). These findings can help a doctor diagnose nephrotic syndrome.

Infants and children with nephrotic syndrome type I may be at risk of developing blood clots, a condition called thromboembolism. Some infants or children may have widespread edema (or swelling of the body). This is called anasarca and can may it hard for a child to walk and to breathe.

Kidney function will continue to get worse. In most instances, the kidneys will fail; this means they can longer function and cannot perform its jobs like filtering waste products from the blood. This is called end stage renal disease. Infants or children will need to be put on dialysis and eventually need a kidney transplant. Despite treatment, end stage renal failure usually occurs between 2 and 8 years of age. However, there have been milder forms of nephrotic syndrome type I where people have not needed a kidney transplant until their teen-age years or even until young adulthood.

After a diagnosis of nephrotic syndrome type I is confirmed, families should seek a medical consultation with physicians with experience in the disorder. In the United States, NephCure Kidney International and the National Kidney Foundation may be able to direct patients to physicians who understand and treat the disorder. After a diagnosis of nephrotic syndrome type I is made, people will go through a series of tests to see how far along the disease is. These tests will tell a physician how the kidneys are affected and to what extent and whether other problems are present. Other initial steps will depend on how the disorder is affecting a person. Families should see a genetic counselor to help understand the genetic aspects of this disorder. Genetic counselors can be found on the National Society of Genetic Counselors website in the United States, and in Canada at the Canadian Association of Genetic Counsellors website.

Nephrotic syndrome type I is also called congenital nephrotic syndrome, Finnish type. This is because the disorder is usually present at birth and occurs most often in people from Finland. Finn major and Finn minor are the two most common changes (mutations) in the NPHS1 gene that cause the disorder in the Finnish population. These two mutations account for about 90% of Finnish people who have this disorder. These two mutations are very rare outside of Finland.

It is important for everyone, not just people with nephrotic syndrome type I, to live a healthy lifestyle including appropriate exercise and activity. Physical activity is good for blood pressure and blood sugar and cholesterol levels. Being very overweight, or obese, can force the kidneys work harder to function properly so doctors recommend that children and adults with nephrotic syndrome lose weight if they are overweight. Talk with your kidney specialist (nephrologist) and entire medical team about what types of exercise and how much is appropriate for you or your child.

In the United States, nephrotic syndrome type I is not one of the disorders that is routinely screened for in newborns. Newborn screening is a way for doctors to test newborn babies for certain inherited disorders. During newborn screening, a tiny sample of blood, called a dried blood spot, is taken from a newborn. This blood sample is run through a machine like a tandem mass spectrometer. This machine can separate and measure certain substances based upon their molecular weight.

If a baby appears to have health problems that could be caused by nephrotic syndrome type I, the easiest way to begin testing for the disorder is to discuss it with the pediatrician or primary doctor. Referral to a pediatric kidney specialist or metabolic genetic specialist may be necessary. Testing information in your area can also be obtained through a genetic counselor. Genetic counselors can be found on the National Society of Genetic Counselors website in the United States, and in Canada at the Canadian Association of Genetic Counsellors website.

More information about newborn screening is available from the National Newborn Screening & Global Resources Center in Austin, Texas or the U.S. Centers for Disease Control and Prevention in Atlanta, Georgia.

Doctors may suspect an infant has nephrotic syndrome type I based on certain symptoms such as swelling because of fluid retention (edema), which is often present at birth or within a few days of birth. Doctors may order an analysis of the urine and blood. Infants with nephrotic syndrome type I have extremely high levels of protein in the urine and microscopic amounts of blood. They may have low levels of a protein called albumin in the blood. They may also have low levels of specialized proteins called antibodies or gamma globulins in the blood.

Sometimes, doctors may remove a small sample of kidney tissue. This is called a biopsy. The sample is examined under a microscope to look for characteristic changes in the tissue. Sometimes, doctor may order x-rays of the kidneys.

Doctors may use molecular genetic testing to confirm a diagnosis of nephrotic syndrome type I. These tests involve studying the NPHS1 gene for changes (mutations or other alterations) that cause the disorder. Molecular genetic testing must be done at specialized laboratories.

To find a medical professional nearby who can discuss information and testing for nephrotic syndrome type I, a listing of medical geneticists can be found at the American College of Medical Genetics and Genomics website and genetic counselors can be found on the National Society of Genetic Counselors website in the United States, and in Canada at the Canadian Association of Genetic Counsellors website.

As of June 2017, there were 92 clinical trials involving nephrotic syndrome listed on clinicaltrials.gov, a government website that provides regularly updated information about federally and privately supported clinical trials. This may not be an exhaustive list of current research. Many of these studies are examining the safety and effectiveness of new treatments for nephrotic syndrome.

For the most up-to-date list, contact clinical trials.gov and search for nephrotic syndrome.

Children with nephrotic syndrome type I may need palliative care. Palliative care ensures that a dying child is as pain free as possible and that all of their physical, social, emotional, and spiritual needs are met. Palliative care requires a close cooperation among family members, immediate relatives, and physicians, and other medical personnel. A primary care physician or local hospital may be able to offer advice and local resources for palliative care.

The International Children’s Palliative Care Network has specific information and support for families considering palliative care for their children. Additionally, the Global Genes Organization has information on rare genetic conditions and palliative care. This information can be found at the Pediatric Palliative Care link.

Nephrotic syndrome type I is a rare inherited kidney disorder. The term nephrotic syndrome is a general term; it means that the kidneys are losing protein and is usually caused by damage to the cluster of small blood vessels (capillaries) called glomeruli that filter waster and excess water from the blood. There are many different causes of nephrotic syndrome. Nephrotic syndrome type I is included under the classification of "congenital and infantile nephrotic syndromes." This group of mainly genetic disorders where the disease is present at birth or within the first few months of life. Although rare, nephrotic syndrome type I is the most common of these disorders; most infants and children with congenital or infantile nephrotic syndrome have nephrotic syndrome type I.

Following a healthy diet and getting proper nutrition is important for everyone, including people with nephrotic syndrome type I. Doctors will recommend that children be placed on a high-protein, low-salt diet. They may also recommend low amounts of cholesterol and fat in the diet, while emphasizing fruits and vegetables. They will also recommend vitamin and nutritional supplementation. Specific dietary and nutritional recommendations will depend on a person’s age, weight, and overall health and the overall health of the kidneys. A doctor who is a kidney specialist, called a nephrologist, along with a nutritionist and dietician can help plan an appropriate diet for children or adults with nephrotic syndrome type I.

A person who is a carrier from nephrotic syndrome type I has a change in one of their two NPHS1 genes. Nephrotic syndrome type I is an autosomal recessive disorder, which means that there must be a change in both NPHS1 genes for the disorder to develop. Carriers of a mutation in one NPHS1 gene do not develop symptoms of the disorder.

We each get two copies of most of our genes from our parents. One copy comes from our mother and the other copy comes from our father. In nephrotic syndrome type I, both parents must pass along a nonworking copy of the NPHS1 gene. Because of this, nephrotic syndrome type I is inherited in what is called an autosomal recessive pattern. People who have one working and one nonworking copy of the NPHS1 gene are called carriers. When both parents are carriers, for each individual pregnancy, there is a 25% chance that both parents will pass along a nonworking copy of the gene and the child will have the disorder. There is a 50% chance that one parent will pass on the gene change and the other will not, meaning the child will be a carrier for the disorder. Finally, there is a 25% chance that both parents will pass along a working copy of the gene and the child will not have the disorder and will not be a carrier. If you are interested in finding out if you are a carrier for nephrotic syndrome type I, talk to your doctor about testing or contact a genetic counselor in your area. Genetic counselors can be found on the National Society of Genetic Counselors website in the United States, and in Canada at the Canadian Association of Genetic Counsellors website.

Most infants and children with nephrotic syndrome type I are treated with supportive measures until the they are old enough to undergo a kidney transplant. Treatment will include infusions of albumin, a protein normally found in the blood. This protein helps prevent other proteins from leaking out of blood vessels, helps to transport substances through the body and nourishes tissues. Infants and children are also treated with antibiotics because they are more prone to developing infections.

Nutritional and vitamin supplements may also be given and a high-protein, low-salt diet is also recommended. Infants may require a feeding tube to ensure they receive enough nourishment.

Eventually, many children will require the kidneys to be removed surgically because of continued protein loss. After the kidneys are removed, children will need to be on dialysis until they reach an appropriate age and weight to consider a kidney transplant. Dialysis is the use of a machine to perform some of the functions normally done by the kidneys. There are milder forms of nephrotic syndrome type I where individuals did not need a kidney transplant until adolescence or young adulthood.

As an alternative to removing the kidneys, some children have been treated with drugs called ACE inhibitors and indomethacin. These drugs have only been tried on a few children, but have shown some beneficial results. This treatment is not effective for all children and infants with nephrotic syndrome type I.

A kidney transplant has been successful in treating nephrotic syndrome type I and some children may have a normal or near normal life expectancy following this procedure. A kidney transplant is a major surgery and there are significant risks including the body rejecting the new kidney, called the graft. People who undergo an organ transplant must, for the remainder of their lives, take drugs that suppress the activity of their immune systems. There have been instances where nephrotic syndrome has developed in the new kidney. This seems to be associated with a specific change in the NPHS1 gene and happens when the body produces antibodies (proteins that defend the body from foreign substances) that mistakenly attack nephrin, a protein that is necessary for the proper function of the kidneys and is missing or reduced in people with nephrotic syndrome type I.

In the United States, NephCure Kidney International and the National Kidney Foundation have information on kidney transplants and provides resources about the procedure and living with the new kidney after the transplant.

Nephrotic syndrome type I is inherited in an autosomal recessive manner. This is one way a disorder or trait can be passed down through a family. Everyone has two copies of the NPHS1 gene; one received from their father and one from their mother. Autosomal recessive inheritance means that a person receives a nonworking copy of the NPHS1 gene from both parents. The parents have one working copy of the gene and one nonworking copy; they are carriers for nephrotic syndrome type I. Carriers do not develop symptoms of the disorder. If two people who are carriers have a child, there is a 25% chance with each pregnancy that the child will have the disorder and a 50% chance the child will also be a carrier. There is also a 25% chance that the child will not have nephrotic syndrome type I and will not be a carrier. If you have a family member with nephrotic syndrome type I and you would like to know if you are a carrier, talk to your doctor or meet with a genetic counselor to discuss testing options. Genetic counselors can be found on the National Society of Genetic Counselors website in the United States, and in Canada at the Canadian Association of Genetic Counsellors website.

A doctor may suspect a diagnosis of nephrotic syndrome type I because of the symptoms an infant has. Some infants have edema at birth. Edema is swelling due to the buildup of fluids in the body. Sometimes, signs or symptoms of nephrotic syndrome may not be present in the first few weeks of life.

A suspected diagnosis should lead to biochemical testing. This type of testing measures the levels of certain chemicals in blood and urine samples. Infants and children with nephrotic syndrome type 1 have extremely high (sometimes massive) levels of protein in the urine and microscopic amounts of blood. They may also have low levels of a specific protein called albumin in the blood.

Doctors may use molecular genetic testing to confirm a diagnosis of nephrotic syndrome type I. These tests involve studying the NPHS1 gene for changes (mutations or other alterations) that cause the disorder. Molecular genetic testing must be done at specialized laboratories.

To find a medical professional nearby who can discuss information and testing for nephrotic syndrome type I, a listing of medical geneticists can be found at the American College of Medical Genetics and Genomics website and genetic counselors can be found on the National Society of Genetic Counselors website in the United States, and in Canada at the Canadian Association of Genetic Counsellors website.

To understand how nephrotic syndrome type I causes symptoms, you need to understand the basic structure and function of the kidneys. The kidneys have several jobs in the body including filtering waste material from the blood, which is then carried out of the body in the urine. The kidneys also help to maintain a specific volume and composition of body fluids through the reabsorption of or excretion of excess water or electrolytes in the body. The kidneys have very small structures called glomeruli; these structures filter waste material from the blood. There are specialized cells in glomeruli called podocytes. Nephrotic syndrome type I is caused by a change (mutation) in the NPHS1 gene. This gene creates a protein called nephrin. This protein is found on the surface of podocytes, specifically on an area called the slit diaphragm.

Because the NPHS1 gene is altered, it does not produce enough nephrin, or the protein is damaged and will not function properly. This means that the slit diaphragm cannot function properly either. The slit diaphragm captures proteins from the blood while allowing other substances like excess sugars or salt to be filter out of the blood and carried out of the body in the urine. Because of the lack of functional nephrin, the slit diaphragm allows protein and blood cells to leak out of the kidneys into the urine where they are removed from the body. This leads to the symptoms of nephrotic syndrome type I. Over time, the function of the kidneys gets worse and eventually the kidneys can barely function or cannot function at all. This is called end stage renal disease and usually requires a kidney transplant.

To learn about ongoing clinical research into nephrotic syndrome type I ask a physician who specializes in the disorder. Genetic counselors and medical geneticists are also excellence sources of information about ongoing clinical trials and can offer advice about the pros and cons about participating in such a trial.

Ongoing studies for nephrotic syndrome type I can also be found on clinicaltrials.gov, a service of the U.S. National Institutes of Health. In Europe, the EU Clinical Trial Register performs a similar service.

Support groups also have information about ongoing clinical trials as well as information and advice about participating in clinical trials. There are a couple of support groups for nephrotic syndromes called NephCure Kidney International in the United States and Nephrotic Syndrome Trust or NeST located in the United Kingdom. There are also many organizations that deal with all types of kidney disorders including the National Kidney Foundation and the Kidney Foundation of Canada.

One of the best ways to find a treatment center such as a metabolic clinic or a physician with experience in treating nephrotic syndrome type I is to contact a support group. In the United States, there is NephCure Kidney International. In the United Kingdom, there is the Nephrotic Syndrome Trust or NeST. There are also many organizations that deal with all types of kidney disorders including the National Kidney Foundation and the American Association of Kidney Patients in the United States and the Kidney Foundation of Canada or Kidney Care UK.

Some people with nephrotic syndrome type I find it challenging when it’s time to move (transition) from pediatric to adult health care services. One big change is leaving a doctor with whom you have a long-standing relationship, a doctor who is familiar with both your condition and you. It can feel like ‘starting over’ as you’ll begin to work with new doctors and a new medical team. Another challenge in moving to adult care is that young adults must take greater responsibility for their health. They must manage their disorder and manage their medications. They must bear greater responsibility for decisions concerning their health. Adolescents should be encouraged to make decisions about their care as early as possible to make this transition easier. Some hospitals have programs to help children with chronic disease transition to adult care services.

Global Genes, a rare disease advocacy organization, has information on teenagers and young adults gaining independence as they grow older and taking charge of their condition.

Nephrotic syndrome type I is a rare disorder. Rare disorders often go unrecognized or misdiagnosed and how common they are in the world is often unclear or unknown. Nephrotic syndrome type I has occurred most often in Finland. Doctors estimate that there is about 1 new person diagnosed with the disorder for every 10,000 people in the population of Finland. Doctors don’t know how many people have the disorder throughout the world, but it occurs much less often outside of Finland. The disorder also occurs with greater frequency among the Old Order Mennonites in Lancaster County, Pennsylvania. Nephrotic syndrome type I can affect people of any ethnic or racial background.

Some parents at risk of having a child with nephrotic syndrome type I may choose to have their children tested for before they are born. This is known as prenatal diagnosis. If the gene change(s) in the NPHS1 gene is known in a family, then molecular genetic testing (which can detect these changes) can be used for prenatal diagnosis. Sometimes, there may be symptoms of a kidney disorder in a developing fetus during pregnancy. Testing for known changes in the NPHS1 gene can be performed. There are risks to the unborn baby of doing these tests before birth. Talk to your doctor or a genetic counselor in your area to discuss the risks and benefits of prenatal diagnosis. Genetic counselors can be found on the National Society of Genetic Counselors website in the United States, and in Canada at the Canadian Association of Genetic Counsellors website.

In the United States, children with nephrotic syndrome type I may qualify for a 504 plan or an individualized education plan (IEP). Not every child will need such a plan.

A 504 plan organizes any unique requests needed by a child to fully participate in school. An individualized education plan (IEP) is a 504 plan ensures that students with disabilities can fully participate in school and have access to the same educational opportunities as all children. These plans may enable child to carry a water bottle with them to class, or allow extra time for homework, or permit them to avoid excess exposure to sunlight.

Parents should talk to their child’s school system and learn what they need to do for their children. Parents are encouraged to provide a school with a packet of information on nephrotic syndrome and to work with school officials including teachers, nurses, psychologists, the principal, and other professionals. NephCure Kidney International has information about how to handle school when your child has nephrotic syndrome.

The U.S. Department of Education has information on individual education plans and on 504 plans. Global Genes, a rare disease advocacy organization, has a RARE Toolkit that advises parents on advocating for their children at their school.

There are several different types of nephrotic syndrome. Nephrotic syndrome type I has a few different names. The disorder has occurred most frequently in Finland and some names refer to the disorder as the Finnish type. Nephrotic syndrome type I is considered a congenital form; this means that symptoms develop by the first 3 months of an infant’s life. Other names for nephrotic syndrome type I, include:

Support groups are organizations that provide support, information, advice, referrals to physicians and medical centers, and up-to-date information on research and treatments. Support groups for nephrotic syndrome type I include NephCure Kidney International in the United States and Nephrotic Syndrome Trust or NeST located in the United Kingdom.

The National Kidney Foundation and the American Association of Kidney Patients in the United States, the Kidney Foundation of Canada, and Kidney Care UK are umbrella organizations. They represent many different kidney disorders including nephrotic syndrome.

Most children with nephrotic syndrome type I show symptoms within the first year of life. Kidney function will decline and most children will require a kidney transplant by 3 or 8 years of age. The first few years of a child’s life are critically important to a child’s development. States have federally-funded early intervention programs that support families that have concerns or issues with their children’s development up to the age of three. Some states will continue to offer early intervention programs beyond the age of three. Other states will transition a child into school-based programs that can be provided at home. In some states, a child may be eligible for early intervention services at no charge. Other states may charge a fee, depending on the agencies involved.

Other countries and areas may have other funded programs or resources.

Talk to your doctor and medical team about early intervention programs in your state and whether these resources will appropriate and beneficial for your child. The Centers for Disease Control and Prevention (CDC) provide information about early intervention programs and assistance.

There are several rare inherited disorders that cause nephrotic syndrome at birth or within the first of life. Nephrotic syndrome type I, caused by changes to the NPHS1 gene, make up about 40-60% of these infants. Other disorders include corticoid-resistant nephrotic syndrome caused by changes to the NPHS2 gene and abnormal kidney function due to changes in the WT1 gene called diffuse mesangial sclerosis. Other rare disorders that can cause nephrotic syndrome in infancy include Pierson syndrome or Galloway-Mowat syndrome. These disorders have other symptoms that differentiate them from nephrotic syndrome type I.

Minimal change disease is a kidney disorder and is one of the most common causes of protein loss from the kidneys (nephrotic syndrome) in the world. It is the most common cause of nephrotic syndrome in children.

There are non-genetic disorders that can cause nephrotic syndrome in infancy. These disorders include certain infections like cytomegalovirus or toxoplasmosis or exposure to kidney-damaging toxins like mercury.

A common treatment for many forms of nephrotic syndrome are corticosteroid drugs (which are anti-inflammatory drugs) and drugs that suppress the activity of the immune system. These treatments work for nephrotic syndrome caused when the immune system does not work. They do not work in infants or children with nephrotic syndrome type I because this is a genetic disorder caused by a change (mutation) in the NHPS1 gene. In fact, these drugs can be harmful because infants and children are at risk for developing repeated infections and further weakening their immune systems increases this risk. Talk your or your child’s kidney specialist (nephrologist) and entire medical team about appropriate treatment options.