Two cases of diabetic ketoacidosis in HNF1A-MODY linked to severe dehydration: is it time to change the diagnostic criteria for MODY?
Two cases of diabetic ketoacidosis in HNF1A-MODY linked to severe dehydration: is it time to change the diagnostic criteria for MODY?
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DOI：
10.2337/dc13-0058
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发表时间：
2013-09
期刊：
影响因子：
16.2
通讯作者：
Sumnik Z
中科院分区：
文献类型：
--
作者：
Pruhova S;Dusatkova P;Neumann D;Hollay E;Cinek O;Lebl J;Sumnik Z
肝细胞核因子-1A 青少年发病型糖尿病 (HNF1A-MODY) 是由 HNF1A 杂合突变引起的单基因糖尿病。目前，糖尿病酮症酸中毒（DKA）病史是MODY基因检测的排除标准。在本文中，我们描述了两名年龄分别为 17 岁和 24 岁的无关患者，他们在诊断 HNF1A-MODY 数年后出现严重 DKA。两名患者均接受了胰岛素治疗，但由于不遵守规定和错过胰岛素注射，他们的代谢控制很差（HbA1c 分别为 15%、140 mmol/mol 和 13%、119 mmol/mol）。两名患者均出现 DKA，并伴有反复呕吐、脱水和肾前性急性肾损伤。入院时他们的血糖、血液 pH 值和碱过剩分别为 97 mmol/L [1,748 mg/dL]、6.80 和 -33 mmol/L（患者 1）和 34 mmol/L [613 mg/dL]、7.03 和 -14 mmol/L（患者 2）。这一轶事观察支持 DKA 病史并不排除 MODY 的观点。
Hepatocyte nuclear factor-1A maturity-onset diabetes of the young (HNF1A-MODY) is a monogenic form of diabetes caused by heterozygous mutations in HNF1A. Currently, a history of diabetic ketoacidosis (DKA) is an exclusion criterion for genetic testing for 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.
影响因子：
8.2
作者：
Shields, B. M.;Hicks, S.;Ellard, S.
通讯作者：
Ellard, S.
影响因子：
3.4
作者：
Hattersley, Andrew;Bruining, Jan;Donaghue, Kim C.
通讯作者：
Donaghue, Kim C.
影响因子：
8.2
作者：
Stride, A;Vaxillaire, M;Hattersley, AT
通讯作者：
Hattersley, AT