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伴有环状胰腺、十二指肠闭锁、胆囊发育不全和外分泌性胰腺功能不全的永久性新生儿糖尿病的PDX1基因突变

PDX1 Gene Mutation with Permanent Neonatal Diabetes Mellitus with Annular Pancreas, Duodenal Atresia, Hypoplastic Gall Bladder and Exocrine Pancreatic Insufficiency.

作者信息

Kulkarni Abhishek, Sharma Varun K, Nabi Fazal

机构信息

Departments of #Pediatric and Adolescent Endocrinology, and *Pediatrics; Jaslok Hospital and Research Centre, Mumbai, India. Correspondence to: Dr Varun K Sharma, B1-306, Madhav Sansar Society, Khadakpada, Kalyan, Maharashtra, 421 301, India.

出版信息

Indian Pediatr. 2017 Dec 15;54(12):1052-1053. doi: 10.1007/s13312-017-1211-2.

DOI:10.1007/s13312-017-1211-2
PMID:29317564
Abstract

BACKGROUND

Neonatal diabetes mellitus is a rare condition.

CASE CHARACTERISTICS

A small for gestational age male, presented with neonatal onset diabetes mellitus, duodenal atresia, annular pancreas and gall bladder hypoplasia.

OBSERVATION

Observation: A novel homozygous mutation p.K163R (c.488A>G) in the PDX1 gene was found. Parents were heterozygous for the same.

MESSAGE

This case highlights the importance of establishing the genetic diagnosis in all cases of neonatal diabetes mellitus.

摘要

背景

新生儿糖尿病是一种罕见病症。

病例特征

一名小于胎龄男婴，患有新生儿期发病的糖尿病、十二指肠闭锁、环状胰腺和胆囊发育不全。

观察结果

发现PDX1基因中有一个新的纯合突变p.K163R（c.488A>G）。父母为该突变的杂合子。

启示

该病例凸显了对所有新生儿糖尿病病例进行基因诊断的重要性。

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