Journal Basic Info
- Impact Factor: 1.809**
- H-Index: 6
- ISSN: 2474-1655
- DOI: 10.25107/2474-1655
Major Scope
- Dermatology and Cosmetology
- Child Birth
- Palliative Care
- Family Medicine and Public Health
- Diabetology
- Endoscopy
- Breast Neoplasms
- Physical Medicine & Rehabilitation
Abstract
Citation: Ann Clin Case Rep. 2023;8(1):2385.DOI: 10.25107/2474-1655.2385
BLK-1 Mutation with Maturity Onset Diabetes of the Young 11: A Case Report
BULUÅž AD*
Ankara Atatürk Sanatoryum Training and Research Hospital, Turkey
PDF Full Text Case Report | Open Access
Abstract:
MODY (Maturity Onset Diabetes of the Young) is a kind of diabetes that has an autosomal dominant inheritance pattern and is caused by monogenic abnormalities in cell activities. MODY is the most common form of monogenic diabetes in Europe, accounting for 1% to 2% of all diabetes cases. Some of the molecular pathways that cause MODY have been clarified in recent years improved genetic approaches. MODY is caused by at least fourteen separate genes, and various mutations have been discovered. Mutations in the B Lymphocyte Tyrosine Kinase (BLK) locus are in the very rare group. It is an important point that the number of cases with this MODY type, which is defined as BLK 1 mutation, in other words MODY 11, is low and it has not been reported in childhood. Here, we present a case who presented with hyperglycemia and found a BLK-1 mutation in the follow-up.
Keywords:
Cite the Article:
BULUÅž AD. BLK-1 Mutation with Maturity Onset Diabetes of the Young 11: A Case Report. Ann Clin Case Rep. 2023; 8: 2385..
