Molecular Diagnosis of Steroid-Resistant Nephrotic Syndrome Is Possible

A single gene was causative in about 30% of families with SRNS.

Steroid-resistant nephrotic syndrome (SRNS) is the second most common cause of chronic kidney disease in childhood. In a multinational genetic study of 1783 unrelated families with SRNS, researchers assessed the frequency, age distribution, and phenotype of single-gene mutations. In a previous report by these authors, single-gene mutations were not found in cases with steroid-sensitive NS.

Single-gene mutations (primarily NPHS2, NPHS1, WT1) were identified in 29.5% of the families with SRNS. Single-gene mutations were found in 61% of children with age of onset at NS <12 months, 25% with of onset age 2 to 5 years, and approximately 10% with age of onset >12 years. Dominantly inherited mutations were associated with a median age at onset of NS…

Reviewing Author

F. Bruder Stapleton, MD

Disclosures

Consultant/Advisory BoardCareer Physician

Editorial BoardsUpToDate

Leadership Positions in Professional SocietiesAmerican Society of Pediatric Nephrology Foundation (Chair)

F. Bruder Stapleton, MD

Disclosures

Consultant/Advisory BoardCareer Physician

Editorial BoardsUpToDate

Leadership Positions in Professional SocietiesAmerican Society of Pediatric Nephrology Foundation (Chair)

Molecular Diagnosis of Steroid-Resistant Nephrotic Syndrome Is Possible

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Reviewing Author