Steroid-resistant nephrotic syndrome

In 2 Turkish sibs with early-onset nephrotic syndrome (NPHS3; 610725 ) and consanguineous parents, Hinkes et al. (2006) identified homozygosity for a 4451C-T transition in exon 18 of the PLCE1 gene, resulting in a ser1484-to-leu (S1484L) substitution. Onset of disease in the sibs was years and 2 years of age, respectively, with development of end-stage renal disease by 12 years and 4 years of age, respectively. Both sibs were resistant to treatment with steroids and cyclophosphamide; kidney biopsy at age years and years, respectively, showed focal and segmental glomerulosclerosis (FSGS) in both.

Steroid-resistant nephrotic syndrome

steroid-resistant nephrotic syndrome

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