Familial steroid-sensitive idiopathic nephrotic syndrome: seven cases from three families in China
The fifth patient was a 35-year-old man (the brother of the third and fourth patients) who developed nephrotic syndrome. Despite a 2-year history of hypertension, he had not undergone urine testing. Immunofluorescence analysis of a renal biopsy revealed IgG and IgA deposits, and an electron microscopic analysis revealed segmental foot process effacement and mild electron-dense deposits in the mesangial area (). The pathology diagnose was mesangial proliferative glomerulonephritis (MsPGN). The patient received prednisone treatment and achieved remission.\nDenaturing high-performance liquid chromatography (DHPLC) was performed following the PCR amplification of all eight exons of the Nphs2 gene in patients 3, 4, and 5 (described above). No homozygous or compound heterozygous mutations in the Nphs2 gene were found in any of these three patients. There was no parental consanguinity in this family.\nPatient X (P-X) and patient Y (P-Y) () also exhibited moderate proteinuria (a result of ++) based on a urine dipstick test, but no further investigations were performed. No quantitative evaluation of the proteinuria was undertaken in either patient.