Friedreich's Ataxia related Diabetes : Epidemiology and management practices
Copyright © 2022 Elsevier B.V. All rights reserved..
AIMS: 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.
METHODS: 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.
RESULTS: 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.
CONCLUSIONS: 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.
| Medienart: |
E-Artikel |
|---|
| Erscheinungsjahr: |
2022 |
|---|---|
| Erschienen: |
2022 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:186 |
|---|---|
| Enthalten in: |
Diabetes research and clinical practice - 186(2022) vom: 30. Apr., Seite 109828 |
| Sprache: |
Englisch |
|---|
| Beteiligte Personen: |
Tamaroff, Jaclyn [VerfasserIn] |
|---|
| Links: |
|---|
| Themen: |
Friedreich’s Ataxia |
|---|
| Anmerkungen: |
Date Completed 04.05.2022 Date Revised 04.07.2023 published: Print-Electronic Citation Status MEDLINE |
|---|
| doi: |
10.1016/j.diabres.2022.109828 |
|---|
| funding: |
|
|---|---|
| Förderinstitution / Projekttitel: |
|
| PPN (Katalog-ID): |
NLM338317023 |
|---|
| LEADER | 01000naa a22002652 4500 | ||
|---|---|---|---|
| 001 | NLM338317023 | ||
| 003 | DE-627 | ||
| 005 | 20231226000410.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 231226s2022 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1016/j.diabres.2022.109828 |2 doi | |
| 028 | 5 | 2 | |a pubmed24n1127.xml |
| 035 | |a (DE-627)NLM338317023 | ||
| 035 | |a (NLM)35301072 | ||
| 035 | |a (PII)S0168-8227(22)00640-4 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 100 | 1 | |a Tamaroff, Jaclyn |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Friedreich's Ataxia related Diabetes |b Epidemiology and management practices |
| 264 | 1 | |c 2022 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a ƒaComputermedien |b c |2 rdamedia | ||
| 338 | |a ƒa Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Date Completed 04.05.2022 | ||
| 500 | |a Date Revised 04.07.2023 | ||
| 500 | |a published: Print-Electronic | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a Copyright © 2022 Elsevier B.V. All rights reserved. | ||
| 520 | |a AIMS: 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 | ||
| 520 | |a METHODS: 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 | ||
| 520 | |a RESULTS: 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 | ||
| 520 | |a CONCLUSIONS: 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 | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Multicenter Study | |
| 650 | 4 | |a Friedreich’s Ataxia | |
| 650 | 4 | |a Mitochondrial diabetes | |
| 650 | 7 | |a Iron-Binding Proteins |2 NLM | |
| 650 | 7 | |a Glucose |2 NLM | |
| 650 | 7 | |a IY9XDZ35W2 |2 NLM | |
| 700 | 1 | |a DeDio, Anna |e verfasserin |4 aut | |
| 700 | 1 | |a Wade, Kristin |e verfasserin |4 aut | |
| 700 | 1 | |a Wells, McKenzie |e verfasserin |4 aut | |
| 700 | 1 | |a Park, Courtney |e verfasserin |4 aut | |
| 700 | 1 | |a Leavens, Karla |e verfasserin |4 aut | |
| 700 | 1 | |a Rummey, Christian |e verfasserin |4 aut | |
| 700 | 1 | |a Kelly, Andrea |e verfasserin |4 aut | |
| 700 | 1 | |a Lynch, David R |e verfasserin |4 aut | |
| 700 | 1 | |a McCormack, Shana E |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Diabetes research and clinical practice |d 1993 |g 186(2022) vom: 30. Apr., Seite 109828 |w (DE-627)NLM01260335X |x 1872-8227 |7 nnns |
| 773 | 1 | 8 | |g volume:186 |g year:2022 |g day:30 |g month:04 |g pages:109828 |
| 856 | 4 | 0 | |u http://dx.doi.org/10.1016/j.diabres.2022.109828 |3 Volltext |
| 912 | |a GBV_USEFLAG_A | ||
| 912 | |a GBV_NLM | ||
| 951 | |a AR | ||
| 952 | |d 186 |j 2022 |b 30 |c 04 |h 109828 | ||