Genetic steroid-resistant nephrotic syndrome

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

A rare disorder characterized by a nephrotic syndrome with often early onset.

Prevalence in the general population is unknown.

The nephrotic syndrome is defined by severe proteinuria with low serum albumin and possible edemas. This disease is rare but severe as it usually progresses to end-stage renal failure.

Several causative mutations have recently been identified. Among these, mutations in the NPHS2 gene (chromosome 1q25-q31 and encoding podocine) have been found to be involved in autosomal recessive forms of the disease. Mutations in the podocine gene have also been detected in later-onset forms and in apparently sporadic forms (10 to 30% of the cases depending on the series). However, the other genes responsible for autosomal recessive forms of the disease remain to be identified. Mutations in the ACTN4 gene, coding for alpha-actinine 4, have been reported in autosomal dominant forms. Mutations are mainly observed in exon 8. An autosomal dominant form has also been described in patients carrying mutations in the TRPC6 gene, located on chromosome 11 and coding for a calcium channel.

Familial forms of idiopathic steroid-resistant nephrotic syndrome do not respond to any treatment with steroids or immunosuppressive drugs and the disease progress to terminal renal failure. Recurrence of the disease in the grafted kidney after renal transplantation is exceptional.

Visit the Orphanet disease page for more resources.

Last updated: 2/1/2007

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.