Abstract：
Congenital nephrotic syndrome (NS) is characterized by early-onset heavy proteinuria. Most cases of congenital NS are associated with genetic mutations in the podocyte proteins. The causal relationship of perinatal infections with congenital NS has not yet been proven. Inadequate response to the treatment of such infections should prompt us to conduct genetic testing for congenital NS. The heavy proteinuria associated with congenital NS is usually difficult to control with conventional treatment. It often results in progressive kidney disease with a high risk of mortality in early life. Here, we describe an infant who developed congenital NS and was found to have a coexisting Cytomegalovirus infection and an underlying NPSH1 mutation. Proteinuria did not respond to a standard dose of enalapril. A supramaximal dose of enalapril was tried and was effective and safe in controlling the proteinuria. It was associated with improved growth, complete resolution of edema, normal serum albumin, and normal renal function beyond 2 years of age.
摘要：
先天性肾病综合征（NS）的特征是早发性重度蛋白尿。大多数先天性NS病例与足细胞蛋白的基因突变有关。尚未证实围产期感染与先天性NS的因果关系。对此类感染的治疗反应不足，应促使我们对先天性NS进行基因检测。与先天性NS相关的大量蛋白尿通常难以通过常规治疗来控制。它通常导致进行性肾脏疾病，在生命早期死亡的风险很高。这里,我们描述了一名婴儿,他患有先天性NS,被发现同时存在巨细胞病毒感染和潜在的NPSH1突变.蛋白尿对标准剂量的依那普利没有反应。尝试了最大剂量的依那普利，在控制蛋白尿方面是有效且安全的。它与增长的改善有关，水肿完全消退，血清白蛋白正常,2岁以上肾功能正常.
