特发性肥厚性幽门狭窄新生儿中发现的罕见疾病和综合征

IF 0.7 4区医学 Q4 OBSTETRICS & GYNECOLOGY Zeitschrift fur Geburtshilfe und Neonatologie Pub Date : 2024-10-09 DOI:10.1055/a-2410-5830

Başak Kaya, Hasan Akduman, Dilek Dilli, Cem Geyik, Ayşe Karaman, Berna Uçan, Özkan Kaya, Seda Aydoğan, Ayşegül Zenciroğlu

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摘要

目的：虽然婴幼儿肥厚性幽门狭窄是一种由遗传和环境因素引起的多因素疾病，但近年来遗传因素的作用变得越来越重要。通过这项研究，我们旨在介绍由遗传因素引起的婴儿肥厚性幽门狭窄的罕见疾病：这是一项回顾性研究。研究对象包括 2000 年至 2022 年期间在新生儿重症监护室接受手术并被诊断为婴儿肥厚性幽门狭窄的婴儿，以及患有其他疾病的婴儿：结果：9.8%被诊断为婴儿肥厚性幽门狭窄的患者伴有罕见疾病：结论：早期诊断和治疗与婴幼儿肥厚性幽门狭窄相关的罕见疾病对降低这些疾病的发病率/死亡率具有重要意义。

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Rare Diseases and Syndromes Observed in Newborn Babies with Idiopathic Hypertrophic Pyloric Stenosis.

Aim: Although infantile hypertrophic pyloric stenosis is a multifactorial disease caused by genetic and environmental factors, the role of genetic factors has become more important recently. With this study, we aimed to present rare diseases accompanying infantile hypertrophic pyloric stenosis caused by genetic factors.

Patients and methods: This is a retrospective study. Babies who were operated on with the diagnosis of infantile hypertrophic pyloric stenosis in the neonatal intensive care unit between 2000 and 2022 and had additional diseases were included in the study.

Results: 9.8% of patients diagnosed with infantile hypertrophic pyloric stenosis had an accompanying rare disease.

Conclusion: Early diagnosis and treatment of rare diseases associated with infantile hypertrophic pyloric stenosis are of great importance in reducing morbidity/mortality due to these diseases.

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