致编辑的信：ABCC8 和 KCNJ11 双杂合子变异的先天性高胰岛素血症患者：随访 6 年的病例报告。

IF 1.3 4区医学 Q4 ENDOCRINOLOGY & METABOLISM

Journal of Pediatric Endocrinology & Metabolism Pub Date : 2024-01-01 Print Date: 2024-02-26 DOI:10.1515/jpem-2023-0445

Peipei Hui, Congli Chen, Yanmei Sang

引用次数: 0

摘要

先天性胰岛素分泌过多症（CHI）伴有 ABCC8 和 KCNJ11 变体，这与二氮醇（CHI 的一线药物）的不良反应高度相关。目前，仅有一例因 ABCC8 和 KCNJ11 双杂合子变异而导致的先天性高胰岛素血症（CHI）患者的报道。人们对 ABCC8 和 KCNJ11 双杂合子变异型 CHI 患者的长期预后知之甚少。在此，我们报告了一名患有 ABCC8 和 KCNJ11 双杂合子变异的 CHI 患者 6 年的随访结果。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Congenital hyperinsulinism patient with ABCC8 and KCNJ11 double heterozygous variants: a case report with 6 years follow-up.

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来源期刊

Journal of Pediatric Endocrinology & Metabolism 医学-内分泌学与代谢

CiteScore

2.70

自引率

7.10%

发文量

176

审稿时长

3-6 weeks

期刊介绍： The aim of the Journal of Pediatric Endocrinology and Metabolism (JPEM) is to diffuse speedily new medical information by publishing clinical investigations in pediatric endocrinology and basic research from all over the world. JPEM is the only international journal dedicated exclusively to endocrinology in the neonatal, pediatric and adolescent age groups. JPEM is a high-quality journal dedicated to pediatric endocrinology in its broadest sense, which is needed at this time of rapid expansion of the field of endocrinology. JPEM publishes Reviews, Original Research, Case Reports, Short Communications and Letters to the Editor (including comments on published papers),. JPEM publishes supplements of proceedings and abstracts of pediatric endocrinology and diabetes society meetings.