lunes, 8 de julio de 2019

Screening for monogenic diabetes in primary care. - PubMed - NCBI

2019 Jun 25. pii: S1751-9918(19)30113-5. doi: 10.1016/j.pcd.2019.06.001. [Epub ahead of print]

Screening for monogenic diabetes in primary care.

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Abstract

AIMS:

Updates on the latest diagnostic methods and features of MODY (Maturity Onset Diabetes of the Young) and promotion of education and awareness on the subject are discussed.

METHOD:

Previous recommendations were identified using PubMed and using combinations of terms including "MODY" "monogenic diabetes" "mature onset diabetes" "MODY case review". The diabetesgenes.org website and the US Monogenic Diabetes Registry (University of Colorado) were directly referenced. The remaining referenced papers were taken from peer-reviewed journals. The initial literature search occurred in January 2017 and the final search occurred in September 2018.

RESULTS:

A diagnosis of MODY has implications for treatment, quality of life, management in pregnancy and research. The threshold for referral and testing varies among different ethnic groups, and depends on body mass index, family history of diabetes and associated syndromes. Novel causative genetic variations are still being discovered however testing is currently limited by low referral rates. Educational material is currently being promoted in the UK in an effort to raise awareness.

CONCLUSIONS:

The benefits and implications of life altering treatment such as termination of insulin administration are significant but little can be done without appropriate identification and referral.