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目的 分析5例糖原贮积症(GSD)IXc型患儿的临床、生化及基因突变特点.方法 回顾分析5例GSD IXc型患儿的临床情况,并采用靶向测序技术进行基因分析,Sanger测序验证所发现的PHKG2基因突变及其父母来源.结果 5例患儿均表现为明显肝大和矮小,4例有运动耐力差;均有空腹低血糖,肝酶中重度升高,血三酰甘油升高;肝脏超声示无肝硬化.靶向测序发现5例患儿均携带PHKG2基因纯合或复合杂合致病或可能致病突变,发现1种已报道突变p.E157K和5种新突变(p.E56X,p.R185X,c.79_88delinsTCTGGTCG,c.761delC,p.R279C),p.E157K为患儿的热点突变(50%).结论 靶向测序有助于确诊GSD IXc型,p.E157K为热点突变.“,”Objective To investigate the clinical, laboratory and genetic features of glycogen storage disease(GSD)IXc. Methods Five patients suspected as liver GSD were included in our study. DNA was extracted from peripheral blood of all the patients and diagnoses were made after target sequencing to nearly 2700 disease causing genes. All detected mutations were confirmed in the probands and their parents. Further analysis was based on clinical features, routine laboratory examinations and treatment. Results All the 5 patients manifested with severe hepatomegaly, hypoglycemia, moderately to severely elevated liver enzyme levels, hypertriglyceridemia and growth retardation. Four cases showed poor exercise tolerance but with normal creatine kinase (CK) levels. None of the patients showed liver cirrhosis. Growth velocity and hepatomegaly was improved after the uncooked corn starch treatment was initiated. In the 5 patients, 6 different pathogenic or likely pathogenic mutations in the PHKG2 gene were identified, including one reported mutation (p.E157K) and five novel mutations (p.E56X, p.R185X, c.79_88delinsTCTGGTCG, c.761delC,p.R279C). The p.E157K was the most frequently mutation identified (6/12, 50%). Conclusions The p.E157K mutation is the hot mutation in our small cohort. Main clinical features of our patients include fasting hypoglycemia, impaired liver function,short statures and poor exercise tolerance, without developing liver cirrhosis.