Clinical profiling and screening for HNF4α and GCK gene mutations in Kashmiri patients with maturity-onset diabetes of the young (MODY)

Firdous, Parveena; Hassan, Toyeeba; Nissar, Kamran; Masoodi, Shariq Rashid; Ganai, Bashir Ahmad

doi:10.1016/j.pcd.2022.01.007

Cited by 2 publications

(1 citation statement)

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“…[ 10 ] The usage of molecular diagnostic testing that is relying on nonspecific clinical characteristics like family history, age of onset, etiology do not exhibit realistic levels of sensitivity and preciseness. [ 11 ] Nowadays, there has been an increased drive to recognize cheap, sensitive, widely accessible and specific biomarker that is superior in differentiating MODY from other types of diabetes. [ 12 ] This review highlights the use of biomarkers for improving diagnosis and clinical selection of MODY subjects for molecular identification.…”

Section: Introductionmentioning

confidence: 99%

Biomarkers

Ganai¹,

Firdous²,

Nissar³

et al. 2022

Indian Journal of Endocrinology and Metabolism

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Maturity Onset Diabetes of Young (MODY), characterized by the pancreatic b-cell dysfunction, the autosomal dominant mode of inheritance and early age of onset (often ≤25 years). It differs from normal type 1 and type 2 diabetes in that it occurs at a low rate of 1-5%, three-generational autosomal dominant patterns of inheritance and lacks typical diabetic features such as obesity. MODY patients can be managed by diet alone for many years, and sulfonylureas are also recommended to be very effective for managing glucose levels for more than 30 years. Despite rapid advancements in molecular disease diagnosis methods, MODY cases are frequently misdiagnosed as type 1 or type 2 due to overlapping clinical features, genetic testing expenses, and a lack of disease understanding. A timely and accurate diagnosis method is critical for disease management and its complications. An early diagnosis and differentiation of MODY at the clinical level could reduce the risk of inappropriate insulin or sulfonylurea treatment therapy and its associated side effects. We present a broader review to highlight the role and efficacy of biomarkers in MODY differentiation and patient selection for genetic testing analysis.

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Section: Introductionmentioning

confidence: 99%