Treatment implications of a delayed diagnosis of maturity-onset diabetes of the young
© 2021 Royal Australasian College of Physicians..
Maturity-onset diabetes of the young (MODY) is a rare form of monogeneic diabetes that classically presents as non-insulin requiring diabetes with evidence of autosomal dominant inheritance in individuals who are typically young and lean. However, these criteria do not capture all cases and can also overlap with other types of diabetes. The hepatocyte nuclear factor-1 alpha (HNF1A) mutation is a common cause of MODY and is highly sensitive to sulphonylureas, which should be first-line therapy. Our case represents the diagnostic challenges of HNF1A MODY and the implications of a delayed diagnosis, which can lead to reduced success of sulphonylurea treatment.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2021 |
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| Erschienen: |
2021 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:51 |
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| Enthalten in: |
Internal medicine journal - 51(2021), 1 vom: 15. Jan., Seite 116-120 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Ali, Aleena S [VerfasserIn] |
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| Links: |
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| Themen: |
Hepatocyte Nuclear Factor 4 |
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| Anmerkungen: |
Date Completed 31.05.2021 Date Revised 31.05.2021 published: Print Citation Status MEDLINE |
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| doi: |
10.1111/imj.15157 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| 520 | |a Maturity-onset diabetes of the young (MODY) is a rare form of monogeneic diabetes that classically presents as non-insulin requiring diabetes with evidence of autosomal dominant inheritance in individuals who are typically young and lean. However, these criteria do not capture all cases and can also overlap with other types of diabetes. The hepatocyte nuclear factor-1 alpha (HNF1A) mutation is a common cause of MODY and is highly sensitive to sulphonylureas, which should be first-line therapy. Our case represents the diagnostic challenges of HNF1A MODY and the implications of a delayed diagnosis, which can lead to reduced success of sulphonylurea treatment | ||
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