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Two siblings with a rare type of maturity-onset diabetes of the young (MODY). | LitMetric

Two siblings with a rare type of maturity-onset diabetes of the young (MODY).

BMJ Case Rep

Pediatrics, Bahrain Defence Force Royal Medical Services, Riffa, Bahrain.

Published: February 2023

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.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9923254PMC
http://dx.doi.org/10.1136/bcr-2022-249362DOI Listing

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