Congenital nephrotic syndrome (NPHS1): features resulting from different mutations in Finnish patients.

摘要: Congenital nephrotic syndrome (NPHS1): Features resulting from different mutations in Finnish patients. Background (NPHS1) is a rare disease inherited as an autosomally recessive trait. The NPHS1 gene mutated children has recently been identified. codes for nephrin, cell-surface protein of podocytes. Two mutations, named Fin-major and Fin-minor, have found over 90% the In this study, we correlated to clinical features renal findings 46 children. Methods Clinical data were collected patient files, kidney histology electron microscopy samples re-evaluated. expression nephrin was studied using immunohistochemistry, Western blotting, situ hybridization. Results Nephrotic detected most patients within days after birth regardless genotype detected. No difference could be neonatal, renal, cardiac, or neurological with mutations. Nephrin not expressed kidneys Fin-minor while another slit diaphragm-associated protein, ZO-1, stained normally. microscopy, podocyte fusion filtration slits various sizes diaphragms, however, missing. contrast this, infant Fin-major/R743C had normal diaphragms responded therapy angiotensin-converting enzyme inhibitor indomethacin. Conclusions common both lead absence well clinically severe form NPHS1, type congenital syndrome.