Monogenic Diabetes: a Diagnostic Algorithm for Clinicians

Overview

Journal Genes (Basel)

Publisher MDPI

Date 2014 Apr 8

PMID 24705260

Citations 15

Authors

Richard W Carroll

Rinki Murphy

Affiliations

Soon will be listed here.

Abstract

Monogenic forms of beta cell diabetes account for approximately 1%-2% of all cases of diabetes, yet remain underdiagnosed. Overlapping clinical features with common forms of diabetes, make diagnosis challenging. A genetic diagnosis of monogenic diabetes in many cases alters therapy, affects prognosis, enables genetic counseling, and has implications for cascade screening of extended family members. We describe those types of monogenic beta cell diabetes which are recognisable by distinct clinical features and have implications for altered management; the cost effectiveness of making a genetic diagnosis in this setting; the use of complementary diagnostic tests to increase the yield among the vast majority of patients who will have commoner types of diabetes which are summarised in a clinical algorithm; and the vital role of cascade genetic testing to enhance case finding.

Citing Articles

Implementing genetic testing in diabetes: Knowledge, perceptions of healthcare professionals, and barriers in a developing country.

Balogun W, Naylor R, Adedokun B, Ogunniyi A, Olopade O, Dagogo-Jack S Popul Med. 2024; 6.

PMID: 38681897 PMC: 11052599. DOI: 10.18332/popmed/184210.

COMPARISON OF C-PEPTIDE LEVELS IN MONOGENIC FORMS OF DIABETES WITH OTHER TYPES OF DIABETES: A SINGLE-CENTER STUDY.

Genes D, Pekkolay Z, Simsek M, Saracoglu H, Turgut M, Tekes S Acta Endocrinol (Buchar). 2024; 19(3):281-285.

PMID: 38356972 PMC: 10863950. DOI: 10.4183/aeb.2023.281.

Genetic perspectives on childhood monogenic diabetes: Diagnosis, management, and future directions.

Sun H, Lin X World J Diabetes. 2024; 14(12):1738-1753.

PMID: 38222792 PMC: 10784795. DOI: 10.4239/wjd.v14.i12.1738.

Genetic testing for misclassified monogenic diabetes in Māori and Pacific peoples in Aōtearoa New Zealand with early-onset type 2 diabetes.

Toomata Z, Leask M, Krishnan M, Cadzow M, Dalbeth N, Stamp L Front Endocrinol (Lausanne). 2023; 14:1174699.

PMID: 37234800 PMC: 10206310. DOI: 10.3389/fendo.2023.1174699.

Monogenic diabetes in New Zealand - An audit based revision of the monogenic diabetes genetic testing pathway in New Zealand.

Harrington F, Greenslade M, Colclough K, Paul R, Jefferies C, Murphy R Front Endocrinol (Lausanne). 2023; 14:1116880.

PMID: 37033247 PMC: 10080040. DOI: 10.3389/fendo.2023.1116880.

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