[先天性高胰岛素血症是歌舞伎综合征的一部分]。

Q4 Medicine
A R Benina, M A Melikyan
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引用次数: 0

摘要

歌舞伎综合征是一种罕见的遗传性疾病,其特征是明显的面部特征、骨骼异常、智力迟钝、发育迟缓和多器官系统发育异常。先天性高胰岛素血症是他的歌舞伎综合症的罕见表现。然而,早期诊断对于预防低血糖的神经系统并发症至关重要。根据症状的严重程度,有两种类型的歌舞伎综合症。歌舞伎综合征1型与基因KMT2D的杂合突变有关。歌舞伎综合征2型以x连锁方式遗传。它与基因KDM6A的杂合突变有关,并以更严重的病程为特征。本文报告2例以先天性高胰岛素血症为特征的歌舞伎综合征1型和2型。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
[Congenital hyperinsulinism as a part of Kabuki syndrome].

Kabuki syndrome is a rare hereditary disease characterized by distinctive facial features, skeletal abnormalities, mental retardation, developmental delay, and anomalies in multiple organ systems development.Congenital hyperinsulinism is a rare manifestation of his Kabuki syndrome. However, early diagnosis is crucial to prevent neurological complications of hypoglycemia.There are 2 types of Kabuki Syndrome depending on severity of symptoms. Kabuki syndrome Type 1 is associated with heterozygous mutations in gene KMT2D. Kabuki syndrome Type 2 is inherited in an X-linked manner. It's associated with heterozygous mutations in gene KDM6A and characterized by more severe course of the disease.This paper presents 2 cases of children with congenital hyperinsulinism as the feature of Kabuki syndrome Type 1 and Type 2.

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来源期刊
Problemy endokrinologii
Problemy endokrinologii Medicine-Endocrinology, Diabetes and Metabolism
CiteScore
1.40
自引率
0.00%
发文量
59
期刊介绍: Since 1955 the “Problems of Endocrinology” (or “Problemy Endocrinologii”) Journal publishes timely articles, balancing both clinical and experimental research, case reports, reviews and lectures on pressing problems of endocrinology. The Journal is aimed to the most topical issues of endocrinology: to chemical structure, biosynthesis and metabolism of hormones, the mechanism of their action at cellular and molecular level; pathogenesis and to clinic of the endocrine diseases, new methods of their diagnostics and treatment. The Journal: features original national and foreign research articles, reflecting world endocrinology development; issues thematic editions on specific areas; publishes chronicle of major international congress sessions and workshops on endocrinology, as well as state-of-the-art guidelines; is intended for scientists, endocrinologists diabetologists and specialists of allied trade, general practitioners, family physicians and pediatrics.
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