Clinical Application of 1,5-Anhydroglucitol Measurements in Patients with Hepatocyte Nuclear Factor-1α Maturity-Onset Diabetes of the Young

Skupień, Jan; Górczyńska-Kosiorz, Sylwia; Klupa, Tomasz; Wanic, Krzysztof; Button, Eric; Sieradzki, Jacek; Małecki, Maciej T.

doi:10.2337/dc07-2334

Cited by 31 publications

(34 citation statements)

References 27 publications

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“…Biomarkers proposed for the discrimination of HNF1A or HNF4A MODY from Type 2 diabetes include 1,5-anhydroglucitol, complement factors C5 and C8, apolipoprotein M and transthyretin, but none has sufficient sensitivity and specificity, [106][107][108][109][110] or the required reproducibility to be clinically useful. 109,111 One marker that has shown more promise is serum high sensitivity C-reactive protein which is significantly lower in HNF1A-MODY than in Type 1 diabetes, Type 2 diabetes, GCK-MODY and non-diabetic controls.…”

Section: Biomarkers To Identify Modymentioning

confidence: 99%

Maturity onset diabetes of the young: identification and diagnosis

2013

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Maturity-onset diabetes of the young (MODY) is a monogenic disorder that results in a familial, young-onset non-insulin dependent form of diabetes, typically presenting in lean young adults before 25 years. Approximately 1% of diabetes has a monogenic cause but this is frequently misdiagnosed as Type 1 or Type 2 diabetes. A correct genetic diagnosis is important as it often leads to improved treatment for those affected with diabetes and enables predictive genetic testing for their asymptomatic relatives. An early diagnosis together with appropriate treatment is essential for reducing the risk of diabetic complications in later life. Mutations in the GCK and HNF1A/4 A genes account for up to 80% of all MODY cases. Mutations in the GCK gene cause a mild, asymptomatic and non-progressive fasting hyperglycaemia from birth usually requiring no treatment. In contrast, mutations in the genes encoding the transcription factors HNF1A and HNF4A cause a progressive insulin secretory defect and hyperglycaemia that can lead to vascular complications. The diabetes in these patients is usually well controlled with sulphonylurea tablets although insulin treatment may be required in later life. In this review, we outline the key clinical and laboratory characteristics of the common and rarer causes of MODY with the aim of raising awareness of this condition amongst health-care scientists.

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Section: Biomarkers To Identify Modymentioning

confidence: 99%

Maturity onset diabetes of the young: identification and diagnosis

2013

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“…There have been several previous attempts to identify HNF1A-MODY biomarkers, most based on candidates initially highlighted by studies on Hnf1a knockout mice (6,7). However, the candidates examined, including apolipoprotein M (8–10), aminoaciduria (11,12), complement components (13), and glycosuria (14–16), have either not demonstrated sufficient sensitivity and/or specificity to warrant further evaluation or have thus far not translated into a clinically useful biomarker.…”

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confidence: 99%

Assessment of High-Sensitivity C-Reactive Protein Levels as Diagnostic Discriminator of Maturity-Onset Diabetes of the Young Due to HNF1A Mutations

et al. 2010

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OBJECTIVEDespite the clinical importance of an accurate diagnosis in individuals with monogenic forms of diabetes, restricted access to genetic testing leaves many patients with undiagnosed diabetes. Recently, common variation near the HNF1 homeobox A (HNF1A) gene was shown to influence C-reactive protein levels in healthy adults. We hypothesized that serum levels of high-sensitivity C-reactive protein (hs-CRP) could represent a clinically useful biomarker for the identification of HNF1A mutations causing maturity-onset diabetes of the young (MODY).RESEARCH DESIGN AND METHODSSerum hs-CRP was measured in subjects with HNF1A-MODY (n = 31), autoimmune diabetes (n = 316), type 2 diabetes (n = 240), and glucokinase (GCK) MODY (n = 24) and in nondiabetic individuals (n = 198). The discriminative accuracy of hs-CRP was evaluated through receiver operating characteristic (ROC) curve analysis, and performance was compared with standard diagnostic criteria. Our primary analyses excluded ∼11% of subjects in whom the single available hs-CRP measurement was >10 mg/l.RESULTSGeometric mean (SD range) hs-CRP levels were significantly lower (P ≤ 0.009) for HNF1A-MODY individuals, 0.20 (0.03–1.14) mg/l, than for any other group: autoimmune diabetes 0.58 (0.10–2.75) mg/l, type 2 diabetes 1.33 (0.28–6.14) mg/l, GCK-MODY 1.01 (0.19–5.33) mg/l, and nondiabetic 0.48 (0.10–2.42) mg/l. The ROC-derived C-statistic for discriminating HNF1A-MODY and type 2 diabetes was 0.8. Measurement of hs-CRP, either alone or in combination with current diagnostic criteria, was superior to current diagnostic criteria alone. Sensitivity and specificity for the combined criteria approached 80%.CONCLUSIONSSerum hs-CRP levels are markedly lower in HNF1A-MODY than in other forms of diabetes. hs-CRP has potential as a widely available, cost-effective screening test to support more precise targeting of MODY diagnostic testing.

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“…Mean (SD range) 1,5AG levels were: GCK-MODY 13.06 microg/ml (5.74-29.74), HNF1A-MODY 4.23 microg/ml (2.12-8.44), type 1 diabetes 3.09 microg/ml (1.45-6.57), LADA 3.46 microg/ml (1.42-8.45), and type 2 diabetes 5.43 (2.12-13.23) [62]. The receiver operating characteristic (ROC) curve analysis revealed 85.7% sensitivity and 80.0% specificity of 1,5AG in screening for HNF-1α MODY at the criterion of <6.5 μg/ml in patients with an A1C level between 6.5 and 9.0% [63].…”

Section: Modymentioning

confidence: 99%

Maturity onset diabetes of the young: Diagnosis and treatment options

Covanţev¹,

Chiriac²,

Perciuleac³

et al. 2016

Russ. Open Med. J.

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Diabetes is a complicated disease, so multiple factors are involved in its development. Nevertheless some of the patients with type 1 and 2 diabetes mellitus have a monogenic form of this disease which has different treatment options and usually fewer complications. It is estimated that about 5% of patients with type 2 diabetes melitus (T2DM) and about 10% of type 1 diabetes melitus (T1DM) are misdiagnosed and have maturity onset diabetes of the young (MODY). We present a review study of the management of most frequent monogenic forms of diabetes such as MODY 1, 2 and 3 and the possibilities of their diagnosis including in resource limited situations.

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Clinical Application of 1,5-Anhydroglucitol Measurements in Patients with Hepatocyte Nuclear Factor-1α Maturity-Onset Diabetes of the Young

Cited by 31 publications

References 27 publications

Maturity onset diabetes of the young: identification and diagnosis

Maturity onset diabetes of the young: identification and diagnosis

Assessment of High-Sensitivity C-Reactive Protein Levels as Diagnostic Discriminator of Maturity-Onset Diabetes of the Young Due to HNF1A Mutations

Maturity onset diabetes of the young: Diagnosis and treatment options

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