Two siblings with a rare type of maturity-onset diabetes of the young (MODY).
BMJ Case Rep
; 16(2)2023 Feb 10.
Article
in En
| MEDLINE
| ID: mdl-36764736
ABSTRACT
Maturity-onset diabetes of the young (MODY) is a type of diabetes that does not entirely fit the usually encountered type 1 or type 2 diabetes. It is a monogenic, familial and non-autoimmune diabetes among children and young adults resulting from autosomal dominant gene mutations.MODY diagnosis is confirmed by molecular genetic testing, which is costly. Therefore, it is rarely done.Nearly 1%-6% of diabetes has a monogenic cause but this is frequently misclassified as type 1 diabetes mellitus due to the lack of genetic testing. Therefore, a correct diagnosis of MODY is crucial for determining the plan of management. Furthermore, having a patient with MODY in a family indicates screening other family members. In this case report, we highlight that paediatric diabetes cases are not always type 1 or type 2 diabetes mellitus since two siblings incidentally presented with hyperglycaemia and a confirmed diagnosis of MODY type 10 was ultimately made. Moreover, their mother who was previously labelled as a case of type 1 diabetes mellitus was diagnosed later as MODY after genetic testing.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Diabetes Mellitus, Type 1
/
Diabetes Mellitus, Type 2
Type of study:
Diagnostic_studies
/
Prognostic_studies
Limits:
Child
/
Female
/
Humans
Language:
En
Journal:
BMJ Case Rep
Year:
2023
Document type:
Article
Affiliation country:
Bahrein