Benina A R, Melikyan M A
Endocrinology Research Centre.
Probl Endokrinol (Mosk). 2022 Jul 20;68(5):91-96. doi: 10.14341/probl13145.
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.
歌舞伎综合征是一种罕见的遗传性疾病，其特征为独特的面部特征、骨骼异常、智力迟钝、发育迟缓以及多器官系统发育异常。先天性高胰岛素血症是其歌舞伎综合征的一种罕见表现。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。根据症状严重程度，歌舞伎综合征有两种类型。1型歌舞伎综合征与基因KMT2D的杂合突变有关。2型歌舞伎综合征以X连锁方式遗传。它与基因KDM6A的杂合突变有关，且疾病进程更为严重。本文介绍了2例以先天性高胰岛素血症为特征的1型和2型歌舞伎综合征患儿。
