Familial steroid-sensitive idiopathic nephrotic syndrome: seven cases from three families in China
The second case was a 5-year-old boy (the brother of the first patient) who was admitted for edema and proteinuria on April 10, 2008. The level of protein in a 24-hr urine sample was 2.65 g, and the blood albumin concentration was 15.1 g/L. This patient was treated with 2 mg/kg/day prednisolone, and he achieved remission after 12 days. He had five episodes of relapse during the following six months, and a renal biopsy revealed MCD. The patient received 25 mg/kg/day mycophenolate mofetil (MMF) and has since remained in remission.\nDirect DNA sequencing was performed after polymerase chain reaction (PCR) amplification of the 29 exons of the Nphs1 gene and the 8 exons of the Nphs2 gene in both patients. No homozygous or compound heterozygous mutations in either gene were found in either patient, except for 1 known single-nucleotide polymorphism (SNP; V763V) in Nphs1 in the second case. These patients were not born to consanguineous parents.