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Cystatin C is not a good candidate biomarker for HNF1A-MODY
Natalia Nowak1, Magdalena Szopa, Gaya Thanabalasingham
1Department of Metabolic Diseases, Jagiellonian University Medical College, 15 Kopernika Street, 31-501, Krakow, Poland.
Insights
Cystatin C levels are not altered in HNF1A-MODY (Maturity-Onset Diabetes of the Young) and cannot diagnose this condition. However, cystatin C provides a higher estimate of glomerular filtration rate (GFR) in HNF1A-MODY patients compared to creatinine.
Area of Science:
- Biochemistry
- Endocrinology
- Nephrology
Background:
- Cystatin C is a biomarker for glomerular filtration rate (GFR).
- Hepatocyte Nuclear Factor 1-alpha-Maturity-Onset Diabetes of the Young (HNF1A-MODY) is associated with decreased C-reactive protein (CRP).
- This suggests potential alterations in cystatin C levels in HNF1A-MODY.
Purpose of the Study:
- To investigate if cystatin C levels are altered in HNF1A-MODY.
- To assess cystatin C as a diagnostic marker for HNF1A-MODY.
- To evaluate cystatin C as a method for assessing GFR in HNF1A-MODY.
Main Methods:
- Cross-sectional study involving HNF1A-MODY patients, type 1 diabetes (T1DM), type 2 diabetes (T2DM), and non-diabetic individuals from Poland and the UK.
- Analysis using additive models adjusting for age, gender, BMI, and creatinine-based estimated GFR (eGFR).
- Comparison of cystatin C levels and cystatin C-based eGFR with creatinine-based eGFR across different groups.
Main Results:
- In Polish subjects, cystatin C levels were lower in HNF1A-MODY compared to T1DM, T2DM, and non-diabetic individuals. Cystatin C-based eGFR was higher than creatinine-based eGFR in HNF1A-MODY.
- In UK subjects, cystatin C levels did not differ between HNF1A-MODY and other diabetic subgroups, except HNF1B-MODY. Cystatin C-based eGFR was significantly higher than creatinine-based eGFR in UK HNF1A-MODY patients.
- The hypothesis that cystatin C is altered in HNF1A-MODY was not confirmed in the replication cohort.
Conclusions:
- Cystatin C cannot be used as a biomarker for diagnosing HNF1A-MODY.
- In HNF1A-MODY, cystatin C-based GFR estimation is higher than that derived from creatinine.
- Further research is needed to understand the discrepancy in GFR estimation methods in HNF1A-MODY.
Abstract:
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.
