新生儿胎便性肠梗阻的遗传和临床特征：一个病例系列。

IF 0.6 4区医学 Q4 PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH

Tropical Doctor Pub Date : 2025-09-16 DOI:10.1177/00494755251376415

Chaitra Angadi, Pankaj Chaudhary, Poonam Singh, Suman Chaurasia, Mayank Priyadarshi, Sriparna Basu

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引用次数: 0

摘要

我们提出了一个病例系列描述的管理和遗传发现在五个新生儿胎粪肠梗阻，出现在出生后48小时。全外显子组测序在三个新生儿中发现囊性纤维化跨膜传导调节因子突变，证实囊性纤维化，其中有一个意义未知的杂合变异。其中2例在保守治疗失败后最终需要手术干预。一人死于感染性休克。

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Genetic and clinical profile of neonates with meconium ileus: A case series.

We present a case series describing the management and genetic findings in five neonates with meconium ileus, presenting within 48 h of birth. Whole-exome sequencing identified cystic fibrosis transmembrane conductance regulator mutations in three neonates, confirming cystic fibrosis, with one heterozygous variant of unknown significance. Two ultimately required surgical intervention after failed conservative management. One died of septic shock.

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来源期刊

Tropical Doctor 医学-公共卫生、环境卫生与职业卫生

CiteScore

1.20

自引率

0.00%

发文量

144

审稿时长

3 months

期刊介绍： The only journal written by and for health workers in low and middle-income countries, Tropical Doctor provides medical expertise and practical advice on how to apply current medical knowledge to the special circumstances of LMIC countries. This journal provides an ideal forum for sharing experiences and establishing best practice, aiding communication between medical professionals in different environments.