Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Zhao, Qinying, Ding, Li, Yang, Ying, Sun, Jinhong, Wang, Min, Li, Xin, Liu, Ming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
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
_version_ 1784740227827367936
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
work_keys_str_mv AT zhaoqinying clinicalcharacteristicsofpatientswithhnf1alphamodyaliteraturereviewandretrospectivechartreview
AT dingli clinicalcharacteristicsofpatientswithhnf1alphamodyaliteraturereviewandretrospectivechartreview
AT yangying clinicalcharacteristicsofpatientswithhnf1alphamodyaliteraturereviewandretrospectivechartreview
AT sunjinhong clinicalcharacteristicsofpatientswithhnf1alphamodyaliteraturereviewandretrospectivechartreview
AT wangmin clinicalcharacteristicsofpatientswithhnf1alphamodyaliteraturereviewandretrospectivechartreview
AT lixin clinicalcharacteristicsofpatientswithhnf1alphamodyaliteraturereviewandretrospectivechartreview
AT liuming clinicalcharacteristicsofpatientswithhnf1alphamodyaliteraturereviewandretrospectivechartreview