表现出不同临床、生化和分子遗传谱的先天性高胰岛素血症。

Congenital hyperinsulinism presenting with different clinical, biochemical and molecular genetic spectra.

作者信息

Şimşek Enver, Binay Çiğdem, Flanagan Sarah E, Ellard Sian, Hussain Khalid, Kabukçuoğlu Sare

机构信息

Division of Pediatric Endocrinology, Department of Pediatrics University College London, London, United Kingdom.

出版信息

Turk J Pediatr. 2013 Nov-Dec;55(6):584-90.

PMID:24577975

Abstract

Congenital hyperinsulinism (CHI) is a common cause of hypoglycemia in infants. We report three cases of CHI with differing clinical, biochemical, and molecular genetic spectra. One patient was unresponsive to medical treatment and died after subtotal pancreatectomy because of complications due to the surgery. Two patients have been followed successfully with medical treatment. Early diagnosis and appropriate treatment of CHI are essential to prevent morbidity and mortality.

摘要

先天性高胰岛素血症（CHI）是婴儿低血糖的常见原因。我们报告了三例具有不同临床、生化和分子遗传特征的CHI病例。一名患者对药物治疗无反应，因手术并发症在胰腺次全切除术后死亡。两名患者通过药物治疗成功随访。CHI的早期诊断和适当治疗对于预防发病和死亡至关重要。