中国循证儿科杂志2017，Vol.12Issue(5)：378-382,5.DOI:10.3969/j.issn.1673-5501.2017.05.012
多脏器型假性醛固酮减少症Ⅰ型1例并文献复习
Multi-system pseudohypoaldosteronism type Ⅰ : A case report and literature review
邹亮燕 1曾丽春 2蒋思远 1陈乡 3杨琳 3周文浩 3陈丽萍 2王来栓1
作者信息
- 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
- 折叠
摘要
Abstract
Objective To report a neonate diagnosed as multi-system pseudohypoaldosteronism type Ⅰ (PHA Ⅰ) caused by SCNN1A gene heterozygous mutation,provide the basis for early diagnosis and clinical decision-making of PHA Ⅰ.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 PHA Ⅰ.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 PHA Ⅰ by HGMD,while c.104delC (p.P35LfsTer14) was a novel deletion mutation from mother.The patient was finally diagnosed as multi-system PHA Ⅰ.The children's parents gave up to treat with oral potassiun 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 muhi-system PHA Ⅰ from 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.关键词
SCNN1A基因/醛固酮减少症/高钾血症/低钠血症/代谢性酸中毒/基因诊断Key words
SCNN1A gene/Pseudohypoaldosteronism/Hyperkalemia/Hyponatremia/Metabolic acidosis/Gene diagnosis引用本文复制引用
邹亮燕,曾丽春,蒋思远,陈乡,杨琳,周文浩,陈丽萍,王来栓..多脏器型假性醛固酮减少症Ⅰ型1例并文献复习[J].中国循证儿科杂志,2017,12(5):378-382,5.
