20例糖原累积症Ⅸa型患者的临床和基因特点分析  

Clinical and genetic features of patients with glycogen storage disease typeⅨa:An analysis of 20 cases

作　　者：李玉川[1] 陆怡[1] 冯佳燕 王建设[1] LI Yuchuan;LU Yi;FENG Jiayan;WANG Jianshe(Department of Hepatology,Children’s Hospital of Fudan University,Shanghai 201102,China;Department of Pathology,Children’s Hospital of Fudan University,Shanghai 201102,China)

机构地区：[1]复旦大学附属儿科医院肝病中心,上海201102 [2]复旦大学附属儿科医院病理科,上海201102

出　　处：《临床肝胆病杂志》2021年第2期380-384,共5页Journal of Clinical Hepatology

摘　　要：目的总结糖原累积症Ⅸa型(GSDⅨa)患者的临床和基因特点,加强对该病的认识。方法回顾性分析2015年1月—2018年12月在复旦大学附属儿科医院住院并经基因确诊的20例GSDⅨa型患者的临床资料,总结其临床和基因特点。结果20例GSDⅨa型患者均为男性,确诊中位年龄为2.5岁。所有患者均有肝肿大,转氨酶水平升高;生长发育迟缓5例(25.0%),空腹低血糖19例(95.0%),高乳酸血症14例(70.0%),高甘油三酯血症9例(45.0%),高胆固醇血症5例(25.0%)。8例患者进行了空腹血酮检查,结果显示均升高;所有患者尿酸均正常,5例(25.0%)患者尿酮体阳性。18例患者进行了肝穿刺检查,其中15例存在轻至中度肝纤维化。共检测到16种PHKA2基因突变,5种为已知致病突变,11种为新突变,其中c.3614位点是高发突变位点。所有患者均使用生玉米淀粉治疗,大多数患者的临床表现均为好转。结论GSDⅨa型以男性为主。肝肿大,转氨酶升高,生长发育迟缓,空腹低血糖,空腹血酮升高,尿酸正常需考虑该病可能。可通过肝穿刺协助诊断,临床生化指标和基因检测可明确诊断及分型。该病多数临床表现较轻,但也可导致肝纤维化,使用生玉米淀粉治疗能够改善病情。Objective To investigate the clinical and genetic features of patients with glycogen storage disease typeⅨa(GSDⅨa),and to improve the clinical understanding of the disease.Methods A retrospective analysis was performed for the clinical data of 20 patients who were hospitalized and genetically diagnosed with GSDⅨa in Children’s Hospital of Fudan University from January 2015 to December 2018,and their clinical and genetic features were summarized.Results All 20 patients with GSDⅨa were male,with a median age of 2.5 years at the time of confirmed diagnosis.All patients had hepatomegaly and elevated aminotransferases;of all patients,there were 5 patients(25.0%)with growth retardation,19(95.0%)with fasting hypoglycemia,14(70.0%)with hyperlactatemia,9(45.0%)with hypertriglyceridemia,and 5(25.0%)with hypercholesterolemia.Fasting blood ketone was measured for 8 patients and all of these patients had an increase in blood ketone;all patients had normal uric acid,and 5 patients(25.0%)had positive urine ketone.Liver biopsy was performed for 18 patients,among whom 15 had mild to moderate liver fibrosis.A total of 16 mutations were detected in the PHKA2 gene,among which 5 were known pathogenic mutations and 11 were novel mutations,and most of the mutations were detected in the c.3614 locus.All patients were treated with uncooked cornstarch,and most patients achieved an improvement in clinical manifestations.Conclusion GSDⅨa is more common in male patients.This disease should be considered for patients with hepatomegaly,elevated aminotransferases,growth retardation,fasting hypoglycemia,elevated fasting blood ketone,and normal uric acid.Liver biopsy may help with the diagnosis of this disease,and clinical biochemical parameters and gene detection can be used to confirm diagnosis and classification.Most patients have mild clinical manifestations,while some patients may have liver fibrosis,and treatment with uncooked cornstarch can improve the condition of this disease.

关 键 词：糖原贮积病 病理状态 体征和症状 突变 

分 类 号：R575[医药卫生—消化系统]