Friedreich's Ataxia related Diabetes: Epidemiology and management practices.

Adult Child Diabetes Mellitus / epidemiology Diabetic Ketoacidosis / complications Friedreich Ataxia / complications Glucose Humans Iron-Binding Proteins / genetics Prospective Studies Risk Factors Trinucleotide Repeat Expansion
Friedreich’s Ataxia Mitochondrial diabetes

Journal

Diabetes research and clinical practice
ISSN: 1872-8227
Titre abrégé: Diabetes Res Clin Pract
Pays: Ireland
ID NLM: 8508335

Informations de publication

Date de publication:
Apr 2022
Historique:
received: 13 07 2021
revised: 04 03 2022
accepted: 09 03 2022
pubmed: 19 3 2022
medline: 6 5 2022
entrez: 18 3 2022
Statut: ppublish

Résumé

Friedreich's Ataxia (FRDA) is a progressive neuromuscular disorder typically caused by GAA triplet repeat expansions in both frataxin gene alleles. FRDA can be complicated by diabetes mellitus (DM). The objective of this study was to describe the prevalence of, risk factors for, and management practices of FRDA-related DM. FACOMS, a prospective, multi-site natural history study, includes 1,104 individuals. Extracted data included the presence of DM and other co-morbidities, genetic diagnosis, and markers of disease severity. We performed detailed medical record review and a survey for the subset of individuals with FRDA-related DM followed at one FACOMS site, Children's Hospital of Philadelphia. FRDA-related DM was reported by 8.7% of individuals. Age, severe disease, and FRDA cardiac complications were positively associated with DM risk. FRDA-related DM was generally well-controlled, as reflected by HbA1c, though diabetic ketoacidosis did occur. Insulin is the mainstay of treatment (64-74% overall); in adults, metformin use was common and newer glucose-lowering agents were used rarely. Clinical factors identify individuals at increased risk for FRDA-related DM. Future studies should test strategies for FRDA-related DM screening and management, in particular the potential role for novel glucose-lowering therapies in preventing or delaying FRDA-related cardiac disease.

Identifiants

DOI: 10.1016/j.diabres.2022.109828 PMID: 35301072 PMC: PMC9075677
pubmed: 35301072
pii: S0168-8227(22)00640-4
doi: 10.1016/j.diabres.2022.109828
pmc: PMC9075677
mid: NIHMS1793942
pii:
doi:

Substances chimiques

Iron-Binding Proteins 0
Glucose IY9XDZ35W2

Types de publication

Journal Article Multicenter Study

Langues

eng

Sous-ensembles de citation

IM

Pagination

109828

Subventions

Organisme : NIDDK NIH HHS
ID : F32 DK128970
Pays : United States
Organisme : NIDDK NIH HHS
ID : K08 DK131253
Pays : United States
Organisme : NIDDK NIH HHS
ID : K12 DK094723
Pays : United States
Organisme : NIDDK NIH HHS
ID : T32 DK063688
Pays : United States

Informations de copyright

Copyright © 2022 Elsevier B.V. All rights reserved.

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Auteurs

Jaclyn Tamaroff (J)

Division of Endocrinology and Diabetes, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. Electronic address: jaclyn.tamaroff@vumc.org.

Anna DeDio (A)

Division of Endocrinology and Diabetes, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

Kristin Wade (K)

Division of Endocrinology and Diabetes, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

McKenzie Wells (M)

Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.

Courtney Park (C)

Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.

Karla Leavens (K)

Division of Endocrinology and Diabetes, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.

Christian Rummey (C)

Clinical Data Science GmbH, Basel, Switzerland.

Andrea Kelly (A)

Division of Endocrinology and Diabetes, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.

David R Lynch (DR)

Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.

Shana E McCormack (SE)

Division of Endocrinology and Diabetes, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Friedreich's Ataxia related Diabetes:...
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Friedreich's Ataxia related Diabetes:...
questionsmedicales.fr › Maladies endocriniennes › Diabète › Friedreich's Ataxia related Diabetes:...
questionsmedicales.fr › Maladies endocriniennes › Diabète › Complications du diabète › Acidocétose diabétique › Friedreich's Ataxia related Diabetes:...
questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Maladies mitochondriales › Ataxie de Friedreich › Friedreich's Ataxia related Diabetes:...
questionsmedicales.fr › Glucides › Sucres › Oses › Hexose › Glucose › Friedreich's Ataxia related Diabetes:...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Friedreich's Ataxia related Diabetes:...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Métalloprotéines › Protéines de liaison au fer › Friedreich's Ataxia related Diabetes:...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Caractéristiques des études épidémiologiques › Études épidémiologiques › Études de cohortes › Études prospectives › Friedreich's Ataxia related Diabetes:...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Statistiques comme sujet › Probabilité › Risque › Facteurs de risque › Friedreich's Ataxia related Diabetes:...
questionsmedicales.fr › Phénomènes génétiques › Mutagenèse › Expansion de séquence répétée de l'ADN › Expansion de trinucléotide répété › Friedreich's Ataxia related Diabetes:...