Nephrotic Syndrome (NS) is a common complication of glomerular diseases, consisting of massive proteinuria, hypoalbuminemia, edema, and hyperlipidemia. Patients with NS are at increased risk for infections and thromboembolic episodes, and are often affected by dyslipidemia and osteoporosis. Steroid Resistant Nephrotic Syndrome (SRNS) is an uncommon cause of chronic renal disease characterized by no response to corticosteroids, the elective therapy for nephrotic syndrome. SRNS affects 3-4 of every 100,000 children under the age of 16 years and accounts for about 30% of primary forms of glomerulonephritis in adults.
SRNS cases are thought to be caused by a primary defect in the glomerular filtration barrier, since do not respond to immunosuppressive therapy. Patients with SRNS have an unfavourable prognosis and usually develop end stage renal disease (ESRD) within 10 years from the onset.
Focal Segmental Glomerulosclerosis and Minimal Change Disease account for the majority of SRNS cases; the remaining ones are mostly diagnosed as Diffuse Mesangial Sclerosis. In some cases of SRNS, a familial form of IgA Nephropathyor glomerulopathy with fibronectin deposits can also be recognized. Besides isolated SRNS, several syndromes characterized by SRNS withassociated extra-renal manifestations have been describes, as Denys-Drashsyndrome, MYH9-related disorder, and Renal-Coloboma syndrome. Different subtypes of SRNS are also known: primary (idiopathic orsporadic); secondary to other pathologies; familial (both autosomal dominantand autosomal recessive inheritances are reported); associated to congenitalsyndromes. In the primary and familial forms of SRNS, numerous genes have been identified. So far, however, abnormalities in known genes account for about 20-30% of theover all cases with SRNS. Hence, other genes are probably involved in the pathogenesis of SRNS.
In 2007 a Registry of SRNS has been established, under the coordination of the Clinical Research Center for Rare Diseases Aldo e Cele Daccò. Till now more than 570 cases of SRNS have been referred to the Registry from around 50 Units of Nephrology. Clinical data of allpatients referred to the Registry are collected by a form
• Collecting clinical and genetic data of patients with SRNS and their families
• Studying the genetic abnormalities of SRNS
• Finding the best therapeutic approach for patients
Elena Bresin MD
Erica Daina MD
Sara Gamba, RN
Clinical Research Center for RareDiseases Aldo e Cele Daccò Mario Negri Institute for Pharmacological Research IRCCS
Via G.B. Camozzi, 3 - 24020 Ranica (BG) Italy
phone 0039 354535304;
Fax 0039 35 4535392