Two Cases of Diabetic Ketoacidosis in HNF1A-MODY Linked to Severe Dehydration: Is it time to change the diagnostic criteria for MODY?

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F13%3A10174045" target="_blank" >RIV/00216208:11130/13:10174045 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11150/13:10174045 RIV/00179906:_____/13:10174045 RIV/00064203:_____/13:10174045

Result on the web

<a href="http://dx.doi.org/10.2337/dc13-0058" target="_blank" >http://dx.doi.org/10.2337/dc13-0058</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.2337/dc13-0058" target="_blank" >10.2337/dc13-0058</a>

Result language

angličtina

Original language name

Two Cases of Diabetic Ketoacidosis in HNF1A-MODY Linked to Severe Dehydration: Is it time to change the diagnostic criteria for MODY?

Original language description

Hepatocyte nuclear factor-1 A maturity-onset diabetes of the young (HNF1A - MODY) is a monogenic form of diabetes caused by heterozygous mutations on HNF1A. Currently, a history of diabetic ketoacidosis (DKA) is an exclusion criterion for genetic testingfor MODY. In this article, we describe two unrelated patients aged 17 and 24 years with severe DKA developed several years after the diagnosis of HNF1A-MODY. Both patients were treated with insulin, but their metabolic control was poor (HbA1c 15%, 140 mmol/mol and 13 %, 119 mmol/mol, respectively) due to noncompliance and missed insulin injections. In both patients, DKA followed a course of recurrent vomiting with dehydration and prerenal acute kidney injury. Their glycemia, blood pH, and base excess at admission were 97 mmol/L [1,748 mg/dL], 6.80, and - 33 mmol/L (patient 1) and 34 mmol/L [613 mg/dL], 7.03, and - 14 mmol/L (patient 2). This anecdotal observation supports the notion that a history of DKA does not exclude MODY.

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FG - Paediatrics

OECD FORD branch

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Project

<a href="/en/project/NT11402" target="_blank" >NT11402: Genetic investigation of monogenic diabetes in the Czech Republic: Evaluation of clinical symptoms, treatment and quality of life</a><br>

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2013

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Diabetes Care

ISSN

0149-5992

e-ISSN

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Volume of the periodical

36

Issue of the periodical within the volume

9

Country of publishing house

US - UNITED STATES

Number of pages

2

Pages from-to

2573-2574

UT code for WoS article

000323420200041

EID of the result in the Scopus database

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