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Clinical Characteristics of Patients With HNF1-alpha MODY: A Literature Review and Retrospective Chart Review
The clinical manifestation of hepatocyte nuclear factor-1-alpha (HNF1-alpha) maturity-onset diabetes of the young (MODY) is highly variable. This study aims to investigate the clinical characteristics of patients with HNF1-alpha MODY in general, by geographical regions (Asian or non-Asian), HNF1-alp...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Frontiers Media S.A.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9252268/ https://www.ncbi.nlm.nih.gov/pubmed/35795147 http://dx.doi.org/10.3389/fendo.2022.900489 |
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author | Zhao, Qinying Ding, Li Yang, Ying Sun, Jinhong Wang, Min Li, Xin Liu, Ming |
author_facet | Zhao, Qinying Ding, Li Yang, Ying Sun, Jinhong Wang, Min Li, Xin Liu, Ming |
author_sort | Zhao, Qinying |
collection | PubMed |
description | The clinical manifestation of hepatocyte nuclear factor-1-alpha (HNF1-alpha) maturity-onset diabetes of the young (MODY) is highly variable. This study aims to investigate the clinical characteristics of patients with HNF1-alpha MODY in general, by geographical regions (Asian or non-Asian), HNF1-alpha mutations, and islet autoantibody status. A literature review and a chart review of patients with HNF1-alpha 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 (p = 0.007) and 2-h post-load C-peptide (p = 0.012) levels and lower levels of triglyceride (TG) (p < 0.001), total cholesterol (TC) (p < 0.001), and high-density lipoprotein cholesterol (HDL-c) (p < 0.001) and less often had macrovascular complications (p = 0.014). The age of diagnosis was oldest in patients with mutations in the transactivation domain (p < 0.001). The levels of 2-h post-load C-peptide (p < 0.001), TG (p = 0.007), TC (p = 0.017), and HDL-c (p = 0.001) were highest and the prevalence of diabetic neuropathy was lowest (p = 0.024) in patients with DNA-binding domain mutations. The fasting (p = 0.004) and 2-h post-load glucose (p = 0.003) levels and the prevalence of diabetic neuropathy (p = 0.010) were higher among patients with positive islet autoantibodies. The study demonstrated that the clinical manifestations of HNF1-alpha MODY differed by geographical regions, HNF1-alpha mutations, and islet autoantibody status. |
format | Online Article Text |
id | pubmed-9252268 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-92522682022-07-05 Clinical Characteristics of Patients With HNF1-alpha MODY: A Literature Review and Retrospective Chart Review Zhao, Qinying Ding, Li Yang, Ying Sun, Jinhong Wang, Min Li, Xin Liu, Ming Front Endocrinol (Lausanne) Endocrinology The clinical manifestation of hepatocyte nuclear factor-1-alpha (HNF1-alpha) maturity-onset diabetes of the young (MODY) is highly variable. This study aims to investigate the clinical characteristics of patients with HNF1-alpha MODY in general, by geographical regions (Asian or non-Asian), HNF1-alpha mutations, and islet autoantibody status. A literature review and a chart review of patients with HNF1-alpha 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 (p = 0.007) and 2-h post-load C-peptide (p = 0.012) levels and lower levels of triglyceride (TG) (p < 0.001), total cholesterol (TC) (p < 0.001), and high-density lipoprotein cholesterol (HDL-c) (p < 0.001) and less often had macrovascular complications (p = 0.014). The age of diagnosis was oldest in patients with mutations in the transactivation domain (p < 0.001). The levels of 2-h post-load C-peptide (p < 0.001), TG (p = 0.007), TC (p = 0.017), and HDL-c (p = 0.001) were highest and the prevalence of diabetic neuropathy was lowest (p = 0.024) in patients with DNA-binding domain mutations. The fasting (p = 0.004) and 2-h post-load glucose (p = 0.003) levels and the prevalence of diabetic neuropathy (p = 0.010) were higher among patients with positive islet autoantibodies. The study demonstrated that the clinical manifestations of HNF1-alpha MODY differed by geographical regions, HNF1-alpha mutations, and islet autoantibody status. Frontiers Media S.A. 2022-06-20 /pmc/articles/PMC9252268/ /pubmed/35795147 http://dx.doi.org/10.3389/fendo.2022.900489 Text en Copyright © 2022 Zhao, Ding, Yang, Sun, Wang, Li and Liu https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Endocrinology Zhao, Qinying Ding, Li Yang, Ying Sun, Jinhong Wang, Min Li, Xin Liu, Ming Clinical Characteristics of Patients With HNF1-alpha MODY: A Literature Review and Retrospective Chart Review |
title | Clinical Characteristics of Patients With HNF1-alpha MODY: A Literature Review and Retrospective Chart Review |
title_full | Clinical Characteristics of Patients With HNF1-alpha MODY: A Literature Review and Retrospective Chart Review |
title_fullStr | Clinical Characteristics of Patients With HNF1-alpha MODY: A Literature Review and Retrospective Chart Review |
title_full_unstemmed | Clinical Characteristics of Patients With HNF1-alpha MODY: A Literature Review and Retrospective Chart Review |
title_short | Clinical Characteristics of Patients With HNF1-alpha MODY: A Literature Review and Retrospective Chart Review |
title_sort | clinical characteristics of patients with hnf1-alpha mody: a literature review and retrospective chart review |
topic | Endocrinology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9252268/ https://www.ncbi.nlm.nih.gov/pubmed/35795147 http://dx.doi.org/10.3389/fendo.2022.900489 |
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