携带成对盒4基因突变早发糖尿病1例报道并文献复习

doi:10.6040/j.issn.1671-7554.0.2021.1523

摘要/Abstract

摘要： 目的探讨成对盒4(paired box 4, PAX4)基因突变致早发糖尿病临床特征,进一步提高对该疾病的认识。方法回顾1例携带PAX4基因突变早发糖尿病患者临床资料,并进行文献复习。结果患者,女,25岁, 因“乏力、口渴、多饮、多尿40余天,恶心、纳差4 d”入院,诊断“糖尿病酮症酸中毒”,胰岛素自身抗体检测阴性,住院期间应用多种降糖药物治疗,疗效欠佳,胰岛分泌功能衰竭;基因检测PAX4基因外显子5上第192位密码子(CGT)G > A 杂合变异,为R192H型。结论对于疑似单基因糖尿病患者,基因测序分析具有重要意义,尤其在诊断和分型方面,准确的基因诊断有助于患者得到更专业的治疗。

关键词: 糖尿病, 基因测序, 成对盒4基因, 突变

Abstract: Objective To explore the clinical features of early-onset diabetes caused by paired box 4(PAX4)gene mutation so as to improve the understanding of the disease. Methods The clinical data of a patient with early-onset diabetes mellitus with PAX4 gene mutation were retrospectively analyzed, and the literature was reviewed. Results A 25-year-old female patient was admitted due to fatigue, thirst, polydipsia and polyuria for more than 40 days, and nausea and anorexia for 4 days. The diagnosis was diabetic ketoacidosis. Insulin autoantibody test was negative. During hospitalization, the patient was treated with a variety of hypoglycemic drugs, but with poor curative effects and islet secretion failure. Genetic testing revealed a heterozygous variant of G > A at codon 192(CGT)in exon 5 of PAX4 gene, which was R192H. Conclusion For patients with suspected monogenic diabetes, gene sequencing is of great significance, especially in the diagnosis and typing. Accurate genetic diagnosis can assure professional treatment.

Key words: Diabetes, Gene sequencing, Paired box 4 genes, Mutation

中图分类号:

R587

唐钦连,张玉超,赵蕙琛,马小莉,于民民,刘元涛. 携带成对盒4基因突变早发糖尿病1例报道并文献复习[J]. 山东大学学报 (医学版), 2022, 60(5): 104-108.

TANG Qinlian, ZHANG Yuchao, ZHAO Huichen, MA Xiaoli, YU Minmin, LIU Yuantao. A case report of early-onset diabetes mellitus carrying paired box 4 gene mutation and literature review[J]. Journal of Shandong University (Health Sciences), 2022, 60(5): 104-108.

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