Nephrotic syndrome is a condition that is caused by any of a group of diseases that damage the kidneys'' filtering system, the glomeruli. The structure of the glomeruli prevents most protein from getting filtered through into the urine. Nephrotic syndrome is characterised by proteinuria (abnormally high loss of protein in the urine), albuminemia and hypercholesterolemia. Ultimately, there is rapid progression to end-stage renal disease where the kidneys are irreversibly damaged, resulting in death if untreated. Treatment is based on relieving symptoms, preventing complications and delaying progressive kidney damage. Patients with nephrotic syndrome are typically treated with steroids, of which about 80% have a good response; the rest are considered to be steroid-resistant and may require renal transplant. One of the main features in steroid-resistant nephrotic syndrome (SRNS; MIM 600995) is focal segmental glomerulosclerosis (FSGS).
Also known as
nephrotic syndrome type 2
Request a test
When requesting this test please use the referral form provided. Please also refer to any additional information provided for this test.
Download the referral form >
Affected patients should fulfil the following criteria: Presence of nephrotic syndrome (serum albumin < 25g/l and urine albumin > 4 mg/m2/h or urine albumin/creatinine ratio > 100 mg/mmol ), that is either:
1) resistant to treatment with steroids, or
2) present in the first 3 months of life, or
3) has a histological picture of FSGS on biopsy. Mutations in the podocin gene, NPHS2, are associated with autosomal recessive steroid-resistant nephrotic syndrome (SRNS), including focal segmental glomerulosclerosis (FSGS). Around half of familial forms and 10-30% of sporadic forms of SRNS are found to have NPHS2 mutations in both alleles. The gene is located on chromosome 1q25-31 and consists of 8 exons.
Download additional information >
Great Ormond Street Hospital NE Thames Regional Genetics Service Laboratories
Great Ormond Street Hospital for Children
37 Queen Square
1ml EDTA neonates, 5ml EDTA adults
Disease / group
Call in advance?
Prenatals must be arranged in advance, through a Clinical Genetics department if possible. Amniotic fluid or CV samples should be sent to Cytogenetics for dissecting and culturing, with instructions to forward the sample to the Regional Molecular Genetics laboratory for analysis