Congenital Diabetes: Comprehensive Genetic Testing Allows for Improved Diagnosis and Treatment of Diabetes and Other Associated Features.

Abstract:

PURPOSE OF REVIEW:The goal of this review is to provide updates on congenital (neonatal) diabetes from 2011 to present, with an emphasis on publications from 2015 to present. RECENT FINDINGS:There has been continued worldwide progress in uncovering the genetic causes of diabetes presenting within the first year of life, including the recognition of nine new causes since 2011. Management has continued to be refined based on underlying molecular cause, and longer-term experience has provided better understanding of the effectiveness, safety, and sustainability of treatment. Associated conditions have been further clarified, such as neurodevelopmental delays and pancreatic insufficiency, including a better appreciation for how these "secondary" conditions impact quality of life for patients and their families. While continued research is essential to understand all forms of congenital diabetes, these cases remain a compelling example of personalized genetic medicine.

journal_name

Curr Diab Rep

journal_title

Current diabetes reports

authors

Letourneau LR,Greeley SAW

doi

10.1007/s11892-018-1016-2

subject

Has Abstract

pub_date

2018-06-13 00:00:00

pages

46

issue

7

eissn

1534-4827

issn

1539-0829

pii

10.1007/s11892-018-1016-2

journal_volume

18

pub_type

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