目的 探讨复合型甘油激酶缺乏症(GKD)的临床和基因特征.方法 分析2例复合型GKD患儿临床资料,并复习相关文献.结果 2例患儿均为男性,新生儿期起病,均存在肾上腺皮质功能减退(低血钠、高血钾、脱水)、高肌酸激酶血症、假性高三酰甘油血症.基因检测提示染色体Xp 21区域片段基因缺失.随访患儿,1例控制较好,1例死于感染.结论 复合型GKD为X连锁隐性遗传病,罕见复杂,易被误诊.早期诊断和治疗,有益于改善患儿预后.%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.
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