ABSTRACT

Infantile nephrotic syndrome is a rare disorder which is frequently caused by genetic defects. A 7-month-old girl presented with fever, loose stools and anasarca and was diagnosed with nephrotic syndrome. Work-up for a genetic cause was negative. Cytomegalovirus polymerase chain reaction (CMV PCR) was positive and the infant was treated with ganciclovir for 6 weeks, followed by valganciclovir for 10 weeks. All symptoms resolved within 2 weeks of commencing treatment and she attained complete remission within 4 weeks. CMV PCR was negative within 4 weeks of antiviral therapy. At 18 months follow-up she remained well. Appropriate treatment of infantile nephrotic syndrome secondary to CMV should result in recovery.

摘要

婴儿肾病综合征是一种罕见的疾病，通常由遗传缺陷引起。一名 7 个月大的女孩出现发烧、稀便和全身水肿，被诊断为肾病综合征。遗传原因的检查结果为阴性。巨细胞病毒聚合酶链反应（CMV PCR）呈阳性，婴儿先用更昔洛韦治疗 6 周，然后用缬更昔洛韦治疗 10 周。所有症状在开始治疗后 2 周内消退，她在 4 周内达到完全缓解。CMV PCR 在抗病毒治疗 4 周内呈阴性。在 18 个月的随访中，她仍然很好。继发于 CMV 的婴儿肾病综合征的适当治疗应导致恢复。