Cystatin C is not a good candidate biomarker for HNF1A-MODY

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• 作者：Natalia Nowak ; Magdalena Szopa ; Gaya Thanabalasingham…
• 关键词：Monogenic diabetes ; MODY ; Cystatin C ; HNF1A
• 刊名：Acta Diabetologica
• 出版年：2013
• 出版时间：October 2013
• 年：2013
• 卷：50
• 期：5
• 页码：815-820
• 全文大小：183KB
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  4. Lee HJ, Ahn CW, Kim SJ, Song YD, Lim SK, Kim KR, Lee HC, Huh KB (2001) Mutation in hepatocyte nuclear factor-1alpha is not a common cause of MODY and early-onset type 2 diabetes in Korea. Acta Diabetol 38:123-27 CrossRef
  5. Ekholm E, Shaat N, Holst JJ (2011) Characterization of beta cell and incretin function in patients with MODY1 (HNF4A MODY) and MODY3 (HNF1A MODY) in a Swedish patient collection. Acta Diabetologica [Epub ahead of print]
  6. Pearson ER, Starkey BJ, Powell RJ, Gribble FN, Clark PM, Hattersley AT (2003) Genetic cause of hyperglycaemia and response to treatment in diabetes. Lancet 362:1276-281
  7. Owen KR, Thanabalasingham G, James TJ, Karpe F, Farmer AJ, McCarthy MI, Gloyn AL (2011) Assessment of highly sensitive C-reactive protein levels as diagnostic discriminator of maturity onset diabetes of the young due to HNF1A mutations. Diabetes Care 33:1919-924 CrossRef
  8. Stevens LA, Schmid CH, Greene T, Li L, Beck GJ, Joffe MM, Froissart M, Kusek JW, Zhang YL, Coresh J, Levey AS (2009) Factors other than glomerular filtration rate affect serum cystatin C levels. Kidney Int 75:652-60 CrossRef
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• 作者单位：Natalia Nowak (1)
  Magdalena Szopa (1) (2) (3)
  Gaya Thanabalasingham (4) (5)
  Tim J. McDonald (6)
  Kevin Colclough (5)
  Jan Skupien (7)
  Timothy J. James (8)
  Beata Kiec-Wilk (1) (3)
  Elzbieta Kozek (1) (3)
  Wojciech Mlynarski (9)
  Andrew T. Hattersley (6)
  Katharine R. Owen (4) (5)
  Maciej T. Malecki (1) (3)
  
  1. Department of Metabolic Diseases, Jagiellonian University Medical College, 15 Kopernika Street, 31-501, Krakow, Poland
  2. Department of Medical Education, Jagiellonian University Medical College, Krakow, Poland
  3. University Hospital, Krakow, Poland
  4. Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Oxford, UK
  5. The Oxford NIHR Biomedical Research Centre, Churchill Hospital, Oxford, UK
  6. NIHR Clinical Research Facility, Peninsula College of Medicine and Dentistry, University of Exeter, Exeter, Devon, UK
  7. Section on Genetics and Epidemiology, Joslin Diabetes Center, Boston, MA, USA
  8. Department of Clinical Biochemistry, John Radcliffe Hospital, Oxford, UK
  9. Department of Paediatrics, Oncology, Hematology and Diabetology, Medical University of Lodz, Lodz, Poland
  
• ISSN：1432-5233

文摘

Cystatin C is a marker of glomerular filtration rate (GFR). Its level is influenced, among the others, by CRP whose concentration is decreased in HNF1A-MODY. We hypothesized that cystatin C level might be altered in HNF1A-MODY. We aimed to evaluate cystatin C in HNF1A-MODY both as a diagnostic marker and as a method of assessing GFR. We initially examined 51 HNF1A-MODY patients, 56 subjects with type 1 diabetes (T1DM), 39 with type 2 diabetes (T2DM) and 43 non-diabetic individuals (ND) from Poland. Subjects from two UK centres were used as replication panels: including 215 HNF1A-MODY, 203 T2DM, 39 HNF4A-MODY, 170 GCK-MODY, 17 HNF1B-MODY and 58 T1DM patients. The data were analysed with additive models, adjusting for gender, age, BMI and estimated GFR (creatinine). In the Polish subjects, adjusted cystatin C level in HNF1A-MODY was lower compared with T1DM, T2DM and ND (p?<?0.05). Additionally, cystatin C-based GFR was higher than that calculated from creatinine level (p?<?0.0001) in HNF1A-MODY, while the two GFR estimates were similar or cystatin C-based lower in the other groups. In the UK subjects, there were no differences in cystatin C between HNF1A-MODY and the other diabetic subgroups, except HNF1B-MODY. In UK HNF1A-MODY, cystatin C-based GFR estimate was higher than the creatinine-based one (p?<?0.0001). Concluding, we could not confirm our hypothesis (supported by the Polish results) that cystatin C level is altered by HNF1A mutations; thus, it cannot be used as a biomarker for HNF1A-MODY. In HNF1A-MODY, the cystatin C-based GFR estimate is higher than the creatinine-based one.