Genetic causes of focal segmental glomerulosclerosis: implications for clinical practice

作者：Rood Ilse M; Deegens Jeroen K J; Wetzels Jack F M^*

来源：Nephrology Dialysis Transplantation, 2012, 27(3): 882-890.

DOI：10.1093/ndt/gfr771

• adults
• children
• focal segmental glomerulosclerosis
• mutation analysis
• steroid-resistant nephrotic syndrome

Focal segmental glomerulosclerosis (FSGS) is a common cause of steroid-resistant nephrotic syndrome in children and adults. Although FSGS is considered a podocyte disease, the aetiology is diverse. In recent years, many inheritable genetic forms of FSGS have been described, caused by mutations in proteins that are important for podocyte function. In the present commentary, we review these genetic causes of FSGS and describe their prevalence in familial and sporadic FSGS. In routine clinical practice, the decision to perform the costly DNA analysis should be based on the assessment if the results affect the care of the individual patient with respect to the evaluation of extrarenal manifestations, treatment decisions, transplantation and genetic counselling.

• 出版日期2012-3