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中国循证儿科杂志

中国循证儿科杂志 ›› 2017, Vol. 12 ›› Issue (5): 378-382.

• 论著 • 上一篇    下一篇

多脏器型假性醛固酮减少症Ⅰ型1例并文献复习

邹亮燕1，4,曾丽春2,4，蒋思远1，陈乡3 ，杨琳3，周文浩3，陈丽萍2， 王来栓1,3   

  1. 1 复旦大学附属儿科医院新生儿科上海，201102；2 江西省儿童医院新生儿科江西，330006；3 复旦大学附属儿科医院，上海市出生缺陷防治重点实验室，复旦大学儿童发育与疾病转化医学研究中心上海，201102；4 共同第一作者
  • 收稿日期:2017-09-14 修回日期:2017-10-25 出版日期:2017-10-25 发布日期:2017-10-25
  • 通讯作者: 王来栓，陈丽萍

Multi-system pseudohypoaldosteronism type Ⅰ: A case report and literature review

ZOU Liang-yan1,4 , ZENG Li-chun2,4, JIANG Si-yuan1, CHEN Xiang3, YANG Lin3, ZHOU Wen-hao3, CHEN Li-ping2, WANG Lai-shuan1,3   

  1. 1 Department of Neonatology, Children's Hospital of Fudan University,Shanghai 201102,China;2 Department of Neonatology, Children's Hospital of Jiangxi Province,Jiangxi 330006;3 The Translational Medicine Center of Children Development and Disease of Fudan University,Shanghai Key Laboratory of Birth Defects, Children's Hospital of Fudan University,Shanghai 201102,China;4 Co-first author
  • Received:2017-09-14 Revised:2017-10-25 Online:2017-10-25 Published:2017-10-25
  • Contact: WANG Lai-shuan，CHEN Li-ping

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摘要： 摘要目的：报告1例SCNN1A基因杂合突变所致的多脏器型假性醛固酮减少症Ⅰ型(PHAⅠ)，为PHAⅠ患儿的早期诊断、治疗等提供依据。方法：总结患儿的临床表型、实验室检查、基因测序结果和诊治经过，并对多脏器型PHAⅠ行文献复习。结果患儿男，17 d，因“发现电解质紊乱6 d”入院，主要表现为低钠血症、高钾血症和代谢性酸中毒。经补钠、氢化可的松和胰岛素等治疗效果不理想。核心家系全外显子检测发现SCNN1A复合杂合变异c.1439+1G>C和c.104delC(p.P35LfsTer14)。c.1439+1G>C源于患儿父亲，是人类基因突变数据库（HGMD）已报道的多脏器型PHAⅠ型的致病突变；c.104delC(p.P35LfsTer14)源于患儿母亲，系新发现的突变。明确诊断多脏器型PHAⅠ后拟予口服降钾树脂治疗，患儿家属放弃治疗，出院后第4 d患儿死亡。检索Pubmed、中国期刊全文数据库、万方数据库、中文科技期刊数据库和中国生物医学文献数据库，检索时间从建库至2017年9月4日，14篇文献（13篇英文，1篇中文）共报告33例多脏器型PHAⅠ型患儿，与本文1例合并后共34例。34例均有肾脏表现。除3例SCNN1A纯合突变及1例SCNN1G杂合突变在病程及随访中未提及肾外表现外，余病例均报道累及肾外其他系统，其中脱水样改变和累及呼吸道最常见，发育迟缓和消化道次之。4例死于高血钾所致心脏骤停，均为SCNN1A突变，除本文报告的1例为杂合突变外均为纯合突变。 结论：顽固性高钾血症、低钠血症和代谢性酸中毒需考虑PHA，基因测序可协助诊断。

Abstract: AbstractObjective：To report a neonate diagnosed as multisystem pseudohypoaldosteronism typeⅠ(PHAⅠ)caused by SCNN1A gene heterozygous mutation,provide the basis for early diagnosis and clinical decisionmaking of PHAⅠ. Methods：Analysis was performed on clinical manifestation,imageological examination,parental sanger test and treatment process of a patient carrying a pair of compound heterozygous mutaions of SCNN1A,and literatures about clinical features of PHAⅠ. Results：A 17dayold boy presented with electrolyte disturbances including hyponatremia,hyperkalemia, and metabolic acidosis for 6 days. The effects of sodium supplement, hydrocortisone and insulin were not satisfactory.A pair of compound heterozygous mutations of SCNN1A was found by WES. c.1439+1G>C was from father and had reported as a pathogenic mutation of PHAⅠ by HGMD,while c.104delC(p.P35LfsTer14) was a novel deletion mutation from mother.The patient was finally diagnosed as multisystem PHAⅠ. The children's parents gave up to treat with oral potassium lowering resin, and the children died the fourth days after discharge. Databases were searched including PubMed, CNKI, Wan Fang Database, China Science and Technology Database and CBMdisc,which described the multisystem PHAⅠfrom databasebuiding time to September 4,2017. A total of 14 articles (13 English, 1 Chinese) were screened out. Renal manifestations were found in all 34 cases. Except 3 cases of SCNN1A and 1 case of SCNN1G did not mention multisystem manifestations, the remaining cases reported dehydration and respiratory changes were the most commom manifestations,followed by stunted growth and digestive manifestations.4 cases died of cardiac arrest caused by hyperkalemia, all of them were SCNN1A mutations, except our study with heterozygous mutation the rest were homozygous mutations.Conclusion：Pseudohypoaldosteronism should be considered when lasted intractable hyperkalemia, hyponatremia and metabolic acidosis happened. Neonatal gene sequencing can help diagnosis.