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

Kód výsledku v 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>

Nalezeny alternativní kódy

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

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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.

Název v anglickém jazyce

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

Popis výsledku anglicky

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.

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

FG - Pediatrie

OECD FORD obor

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Projekt

<a href="/cs/project/NT11402" target="_blank" >NT11402: Vyšetřování genů způsobujících monogenní diabetes ve skupině českých pacientů s diabetem a hodnocení vlivu nalezené mutace na klinický stav pacientů, jejich léčbu a kvalitu života</a><br>

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2013

Kód důvěrnosti údajů

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

Název periodika

Diabetes Care

ISSN

0149-5992

e-ISSN

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Svazek periodika

36

Číslo periodika v rámci svazku

9

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

2

Strana od-do

2573-2574

Kód UT WoS článku

000323420200041

EID výsledku v databázi Scopus

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