Department of Nephrology, Starship Children's Hospital, Park Road, Private Bag 92024, Grafton, Auckland, 1023, New Zealand,
Pediatr Nephrol. 2013 Dec;28(12):2313-21. doi: 10.1007/s00467-013-2584-7. Epub 2013 Aug 15.
Infants with congenital nephrotic syndrome (CNS) develop severe nephrotic syndrome that is resistant to medical therapy, and bilateral nephrectomy is recommended toward the end of the first year of life followed by renal replacement therapy. CNS infants in New Zealand have been observed to exhibit a different course to those with the typical Finnish mutation.
A database of CNS children at our center was retrospectively examined. All cases diagnosed between 1975 and 2011 were reviewed. Demographic data, clinical features, genetic mutations, treatment, and outcome were extracted from clinical records.
Thirty-five patients with CNS, 23 children of Maori descent, and 12 Caucasians . Fourteen had died of either bacterial sepsis or intracranial thrombosis. Maori children had displayed a highly variable and protracted timeline to end-stage renal disease (ESRD) with median renal survival of 30 years versus 0.7 years in Caucasian patients. Mutation analysis of NPHS1 showed a founder mutation in the Maori population.
Congenital nephrotic syndrome in New Zealand Maori children exhibit a different clinical course to Caucasian children and have a mutation that was first described in this ethnic group.
患有先天性肾病综合征 (CNS) 的婴儿会出现严重的肾病综合征，对药物治疗有抗性，建议在出生后的第一年结束前进行双侧肾切除术，随后进行肾脏替代治疗。在新西兰，观察到 CNS 婴儿的病程与具有典型芬兰突变的婴儿不同。
我们对中心的 CNS 儿童数据库进行了回顾性检查。对 1975 年至 2011 年间诊断的所有病例进行了回顾。从临床记录中提取了人口统计学数据、临床特征、基因突变、治疗和结局。
35 名 CNS 患儿，23 名毛利裔儿童和 12 名白种人。其中 14 人因细菌败血症或颅内血栓形成而死亡。毛利儿童的终末期肾病 (ESRD) 时间线变化很大且持续时间较长，中位肾脏存活率为 30 年，而白种人患者为 0.7 年。对 NPHS1 的突变分析显示，毛利人群中存在一个创始突变。
新西兰毛利儿童的先天性肾病综合征与白种人儿童的临床表现不同，且存在一种首先在该族群中描述的突变。
