AUTHOR=Zhao Qinying , Ding Li , Yang Ying , Sun Jinhong , Wang Min , Li Xin , Liu Ming 

TITLE=Clinical Characteristics of Patients With HNF1-alpha MODY: A Literature Review and Retrospective Chart Review

JOURNAL=Frontiers in Endocrinology

VOLUME=13

YEAR=2022

URL=https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2022.900489

DOI=10.3389/fendo.2022.900489

ISSN=1664-2392

ABSTRACT=<p>The clinical manifestation of hepatocyte nuclear factor-1-alpha (<italic>HNF1-alpha</italic>) maturity-onset diabetes of the young (MODY) is highly variable. This study aims to investigate the clinical characteristics of patients with <italic>HNF1-alpha</italic> MODY in general, by geographical regions (Asian or non-Asian), <italic>HNF1-alpha</italic> mutations, and islet autoantibody status. A literature review and a chart review of patients with <italic>HNF1-alpha</italic> MODY were performed. The means and proportions from studies were pooled using the inverse variance method for pooling, and subgroup analyses were performed. A total of 109 studies involving 1,325 patients [41.5%, 95% confidence interval (CI): 35.2, 48.1; male] were identified. The mean age of diagnosis was 20.3 years (95% CI: 18.3–22.2), and the mean glycated hemoglobin was 7.3% (95% CI: 7.2–7.5). In comparison, Asian patients exhibited significantly higher HbA1c (<italic>p</italic> = 0.007) and 2-h post-load C-peptide (<italic>p</italic> = 0.012) levels and lower levels of triglyceride (TG) (<italic>p</italic> &lt; 0.001), total cholesterol (TC) (<italic>p</italic> &lt; 0.001), and high-density lipoprotein cholesterol (HDL-c) (<italic>p</italic> &lt; 0.001) and less often had macrovascular complications (<italic>p</italic> = 0.014). The age of diagnosis was oldest in patients with mutations in the transactivation domain (<italic>p</italic> &lt; 0.001). The levels of 2-h post-load C-peptide (<italic>p</italic> &lt; 0.001), TG (<italic>p</italic> = 0.007), TC (<italic>p</italic> = 0.017), and HDL-c (<italic>p</italic> = 0.001) were highest and the prevalence of diabetic neuropathy was lowest (<italic>p</italic> = 0.024) in patients with DNA-binding domain mutations. The fasting (<italic>p</italic> = 0.004) and 2-h post-load glucose (<italic>p</italic> = 0.003) levels and the prevalence of diabetic neuropathy (<italic>p</italic> = 0.010) were higher among patients with positive islet autoantibodies. The study demonstrated that the clinical manifestations of <italic>HNF1-alpha</italic> MODY differed by geographical regions, <italic>HNF1-alpha</italic> mutations, and islet autoantibody status.</p>