Complex glycerol kinase deficiency: two case report and literature review

VernacularTitle:复合型甘油激酶缺乏症2例报告并文献复习
Author: Rui FAN ¹ ; Yining ZHANG ; Xiaoping LI ; Feiyu LU ; Hongwei DU
Author Information

1. 吉林大学白求恩第一医院
Keywords: glycerol kinase deficiency; hypoadrenalism; Xp21
From: Journal of Clinical Pediatrics 2018;36(3):197-201
CountryChina
Language:Chinese
Abstract: Objective To explore the clinical and genetic characteristics of complex glycerol kinase deficiency (GKD). Methods The clinical data of 2 cases of complex GKD were analyzed and the related literatures were reviewed. Results Both cases were male onset in neonatal period, and had hypocorticalism (hyponatremia, hyperkalemia, dehydration), hypercreatine kinasemia, and pseudotriglyceridemia. Gene detection suggested that there was gene deletion in chromosome Xp21 region. In the follow-up, one case had good control of the disease and one died of infection. Conclusions Complex GKD is an X-linked recessive hereditary disease. It is rare and complicated, and is easily misdiagnosed. Early diagnosis and treatment are beneficial to improve the prognosis.