Journal of Shandong University (Health Sciences) ›› 2022, Vol. 60 ›› Issue (5): 104-108.doi: 10.6040/j.issn.1671-7554.0.2021.1523

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A case report of early-onset diabetes mellitus carrying paired box 4 gene mutation and literature review

TANG Qinlian1, ZHANG Yuchao1, ZHAO Huichen1, MA Xiaoli1, YU Minmin1, LIU Yuantao2   

  1. 1. Department of Endocrinology, Qingdao Municipal Hospital, Qingdao 266011, Shandong, China;
    2. Department of Endocrinology, Qilu Hospital of Shandong University(Qingdao), Qingdao 266011, Shandong, China
  • Published:2022-06-01

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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

CLC Number: 

  • R587
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