In:
Medicine, Ovid Technologies (Wolters Kluwer Health), Vol. 101, No. 49 ( 2022-12-9), p. e32139-
Kurzfassung:
Maturity onset diabetes of the young (MODY) is the most common type of monogenic diabetes, characterized by autosomal dominant inheritance, the age of onset is often 〈 25 years old, and the clinical manifestations are atypical. MODY12 is caused by a rare missense mutation of adenosine triphosphate (ATP)-binding cassette transporter subfamily C member 8 ( ABCC8 ) gene and more than 50 ABCC8 variants were associated with MODY12. Patient concerns: The patient was a 30-year-old Chinese Han man. He was overweight with a poor control of blood glucose. Diagnoses: The patient was diagnosed with MODY12. Interventions: The patient was given glimepiride (4 mg/d) with diet and exercise therapy to reduce blood glucose and weight. Outcomes: The level of fasting blood glucose and C-peptide was improved after 1 year treatment as well as body weight. Lessons: A Chinese Han adult with a heterozygous missense mutation c.3976G 〉 A (p.Glu1326Lys) was diagnosed with MODY12, which was the new pathogenic mutation for the disease. This report expands the spectrum of variants causing MODY12 and reduces misdiagnosis.
Materialart:
Online-Ressource
ISSN:
1536-5964
DOI:
10.1097/MD.0000000000032139
Sprache:
Englisch
Verlag:
Ovid Technologies (Wolters Kluwer Health)
Publikationsdatum:
2022
ZDB Id:
2049818-4