Urinary C-Peptide Creatinine Ratio Is a Practical Outpatient Tool for Identifying Hepatocyte Nuclear Factor 1-α/Hepatocyte Nuclear Factor 4-α Maturity-Onset Diabetes of the Young From Long-Duration Type 1 Diabetes
Open Access
- 20 January 2011
- journal article
- research article
- Published by American Diabetes Association in Diabetes Care
- Vol. 34 (2), 286-291
- https://doi.org/10.2337/dc10-1293
Abstract
OBJECTIVE-Hepatocyte nuclear factor 1-alpha (HNF1A)/hepatocyte nuclear factor 4-alpha (HNF4A) maturity-onset diabetes of the young (MODY) is frequently misdiagnosed as type 1 diabetes, and patients are inappropriately treated with insulin. Blood C-peptide can aid in the diagnosis of MODY, but practical reasons limit its widespread use. Urinary C-peptide creatinine ratio (UCPCR), a stable measure of endogenous insulin secretion, is a noninvasive alternative. We aimed to compare stimulated UCPCR in adults with HNF1A/4A MODY, type 1 diabetes, and type 2 diabetes. RESEARCH DESIGN AND METHODS-Adults with diabetes for >= 5years, without renal impairment, were studied (HNF1A MODY [n = 54], HNF4A MODY [n = 23], glucokinase MODY [n = 20], type 1 diabetes [n = 69], and type 2 diabetes [n = 54]). The UCPCR was collected in boric acid 120 min after the largest meal of the day and mailed for analysis. Receiver operating characteristic (ROC) curves were used to identify optimal UCPCR cutoffs to differentiate HNF1A/4A MODY from type 1 and type 2 diabetes. RESULTS-UCPCR was lower in type 1 diabetes than HNF1A/4A MODY (median [interquartile range]) (= 0.2 nmol/mmol for differentiating HNF1A/4A MODY from type 1 diabetes (97% sensitivity, 96% specificity). UCPCR was lower in HNF1A/4A MODY than in type 2 diabetes (1.72 nmol/mmol [0.98-2.90] vs. 2.47 nmol/mmol [1.4-4.13]); P = 0.007). ROC curves showed a weak distinction between HNF1A/4A MODY and type 2 diabetes (AUC 0.64). CONCLUSIONS-UCPCR is a noninvasive outpatient tool that can be used to discriminate HNF1A and HNF4A MODY from long-duration type 1 diabetes. To differentiate MODY from type 1 diabetes of >5 years' duration, UCPCR could be used to determine whether genetic testing is indicated.Keywords
This publication has 25 references indexed in Scilit:
- Maturity-onset diabetes of the young (MODY): how many cases are we missing?Diabetologia, 2010
- Evaluation of Serum 1,5 Anhydroglucitol Levels as a Clinical Test to Differentiate Subtypes of DiabetesDiabetes Care, 2010
- An investigation of serum concentration of apoM as a potential MODY3 marker using a novel ELISAJournal of Internal Medicine, 2010
- A genetic diagnosis of HNF1A diabetes alters treatment and improves glycaemic control in the majority of insulin‐treated patientsDiabetic Medicine, 2009
- Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4α mutations in a large European collectionDiabetologia, 2005
- Genetic cause of hyperglycaemia and response to treatment in diabetesThe Lancet, 2003
- Molecular Mechanisms and Clinical Pathophysiology of Maturity-Onset Diabetes of the YoungThe New England Journal of Medicine, 2001
- Mutations in the hepatocyte nuclear factor-1α gene in Caucasian families originally classified as having Type I diabetesDiabetologia, 1998
- Novel MODY3 Mutations in the Hepatocyte Nuclear Factor-1α Gene: Evidence for a Hyperexcitability of Pancreatic β-cells to Intravenous Secretagogues in a Glucose-Tolerant Carrier of a P447L MutationDiabetes, 1997
- Mild familial diabetes with dominant inheritance.1974