Safdar Osama Y, Abddulghfar Miral M, Saaty Renad N, Bernawi Zahrah, Babteen Reem, Felemban Osama M
Pediatric Nephrology Center of Excellence, King Abdluaziz University Hospital, Jeddah, Saudi Arabia.
Faculty of Medicine, King Abdulaziz University Hospital, Jeddah, Saudi Arabia.
J Family Med Prim Care. 2024 Dec;13(12):5900-5902. doi: 10.4103/jfmpc.jfmpc_674_24. Epub 2024 Dec 9.
The Kabuki syndrome (KS) is a rare congenital disease that has two different types, KS1 and KS2, with variant in epigenetic gene KMT2D and KDM6A, respectively. It is associated with multiple abnormalities such as (developmental delay, atypical facial features, cardiac anomalies, minor skeleton anomalies, genitourinary anomalies, and mild to moderate intellectual disability). This syndrome can lead to neonatal hypoglycemia that results from hyperinsulinemia and electrolyte abnormalities. We described 18-month-old Egyptian girl with Kabuki syndrome type 2 presented with persistent hypoglycemia since birth and accompanied by an abnormality in urine concentration, and blood gases showed academia. She was treated medically. The diagnosis was made at the age of five months. Growth failure and developmental delay were noted during the patient's growth. We found that KS2 with heterozygous gene mutation KDM6A, which had related with severe hypoglycemia in neonates. Mostly due to congenital hyperinsulinism for further investigations. We aim to increase the awareness of different genetic diseases that are related to neonatal hypoglycemia and early recognition and treatment to prevent the neurodevelopmental complication and improve the outcome.
歌舞伎综合征（KS）是一种罕见的先天性疾病，有KS1和KS2两种不同类型，分别在表观遗传基因KMT2D和KDM6A中存在变异。它与多种异常情况相关，如（发育迟缓、非典型面部特征、心脏异常、轻微骨骼异常、泌尿生殖系统异常以及轻度至中度智力残疾）。这种综合征可导致由高胰岛素血症和电解质异常引起的新生儿低血糖。我们描述了一名18个月大的埃及女孩，患有2型歌舞伎综合征，自出生以来一直存在持续性低血糖，并伴有尿液浓缩异常，血气分析显示有酸血症。她接受了药物治疗。诊断在五个月大时做出。在患者成长过程中发现有生长发育迟缓。我们发现该患者为KDM6A基因杂合突变的KS2型，这与新生儿严重低血糖有关。主要原因是先天性高胰岛素血症，有待进一步研究。我们旨在提高对与新生儿低血糖相关的不同遗传疾病的认识，以及早期识别和治疗，以预防神经发育并发症并改善预后。
