摘要 目的 探讨酮症起病青少年发病的成年型糖尿病（MODY）的临床特点及基因检测意义。 方法 对本院收治3例酮症起病的青少年患者及其家系成员的临床特征、实验室资料进行分析，采用基因测序对先证者及家系成员目的基因进行检测。 结果 先证者1及其母亲检测到肝细胞核因子4α(HNF-4α)基因c.270delC杂合突变，诊断为MODY1；先证者2、母亲、外公检测到HNF-1α基因c.1136-1137delCT杂合突变，诊断为MODY3；先证者3检测到B淋巴细胞激酶基因(BLK)基因107C＞T杂合突变，诊断为MODY11。3例酮症起病的MODY，其临床表现与1型糖尿病重叠，基因检测明确诊断。 结论 中国人群中存在HNF-4α基因突变导致的MODY1型家系、HNF-1α基因突变导致的MODY3型家系、BLK基因突变导致的MODY11型家系。MODY的临床表现多样化，可能存在1型糖尿病类似的临床表现，容易被误诊，需要引起重视。 Abstract：Objective To investigate the clinical features of maturity-onset diabetes of the young (MODY) with ketosis as the initial symptom and disease onset in adolescence and the significance of gene detection. Methods The clinical features and laboratory data of three adolescent patients with ketosis as the initial symptom and their family members were analyzed, and gene sequencing was used to analyze the target genes of the probands and their family members. Results Proband 1 and her mother were found to have a heterozygous mutation in the HNF-4α gene (c.270delC) and were diagnosed with MODY type 1 (MODY1). Proband 2, her mother, and her grandfather were found to have a heterozygous mutation in the HNF-1α gene (c.1136-1137delCT) and were diagnosed with MODY type 3 (MODY3). Proband 3 was found to have a 107C>T heterozygous mutation in the BLK gene and was diagnosed with MODY type 11 (MODY11). The clinical features of the three MODY patients with ketosis as the initial symptom overlapped with those of type 1 diabetes, and gene detection helped to give a definite diagnosis. Conclusion There are MODY1 pedigrees caused by HNF-4α gene mutations, MODY3 pedigrees caused by HNF-1α gene mutations, and MODY11 pedigrees caused by BLK gene mutations in the Chinese population. MODY has diversified clinical manifestations and may have similar clinical manifestations as type 1 diabetes, and therefore, it may be easily misdiagnosed and thus needs to be taken seriously
