新生儿多脏器型醛固酮减少症Ⅰ型2例报告并文献复习

Multi-system pseudohypoaldosteronism type Ⅰ in neonates: a report of 2 cases and literature review

目的探讨新生儿多脏器型醛固酮减少症1型(PHA1)的临床特点。方法回顾分析2例新生儿PHA1的临床资料,并复习文献。结果2例新生儿,男女各1例,均以脱水、反应差、喂养困难为表现,1例临床治愈,另外1例死亡。基因检测发现SCNN1G基因复合杂合突变。本例及文献报道共40例PHA1型患儿,其中男19例,女21例;发病日龄7~21天,平均(9.4±8.28)天;家族中有类似症状病史6例(15.0%);40例(100%)患儿均有反应差及高血钾、低血钠;食欲减退或拒乳等喂养困难38例(95.0%),呕吐21例(52.5%),腹泻20例(50.0%),皮疹15例(37.5%),酸中毒38例(95.0%),脱水37例(92.5%),体质量不增37例(92.5%)。其中34例行基因检测,发现上皮钠通道(ENaC)基因不同类型变异。21例(52.5%)行血液净化治疗。4例(10.0%)放弃治疗死亡,临床治愈4例,病情稳定18例,病情不稳定14例。结论PHA1早期表现非特异,部分有类似家族史,对疑似患儿应尽早行血醛固酮、肾素及基因检测,早期诊断可改善预后。

Objective To explore the clinical characteristics of multi-system pseudohypoaldosteronism typeⅠ(PHA1)in neonates.Methods The clinical data of PHA1 in 2 neonates were reviewed and the related literature was reviewed.Results Two newborns,one boy and one girl,showed dehydration,poor response and feeding difficulties.One patient was clinically cured and the other died.A compound heterozygous mutation of SCNN1G gene was found by gene detection.A total of 40 PHA1 children including 2 cases in this study were reported in literatures.There were 19 boys and 21 girls,the age at onset ranged from 7 to 21 days and the average age at onset was 9.4±8.28 days.Six children(15.0%)had a family history of similar symptoms.All the 40 neonates(100%)had poor response,hyperkalemia and hyponatremia.Feeding difficulties(loss of appetite or difficulty in breastfeeding)were found in 38 cases(95.0%),vomiting in 21 cases(52.5%),diarrhea in 20 cases(50.0%)and rash in 15 cases(37.5%).Acidosis was found in 38 cases(95.0%),dehydration in 37 cases(92.5%),and poor weight gain in 37 cases(92.5%).Among them,34 cases had gene detection and different types of mutations in the epithelial sodium channel(ENaC)gene were found.Hemopurification was performed in 21 cases(52.5%).Four patients(10.0%)died after abandoning treatment,and 4 were cured clinically.The disease was stable in 18 cases and unstable in 14 cases.Conclusions The early manifestations of PHA1 are non-specific,and some of them have similar family history.Blood aldosterone,renin and gene examination should be performed as soon as possible in suspected patients,and early diagnosis can improve the prognosis.