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. 2021 Jul 24;10(15):3265.
doi: 10.3390/jcm10153265.

Hyperuricemia Is an Early and Relatively Common Feature in Children with HNF1B Nephropathy but Its Utility as a Predictor of the Disease Is Limited

Marcin Kołbuc  1 , Beata Bieniaś  2 , Sandra Habbig  3 , Mateusz F Kołek  4 , Maria Szczepańska  5 , Katarzyna Kiliś-Pstrusińska  6 , Anna Wasilewska  7 , Piotr Adamczyk  8 , Rafał Motyka  1 , Marcin Tkaczyk  9 , Przemysław Sikora  2 , Bodo B Beck  10 , Marcin Zaniew  1
Affiliations

Hyperuricemia Is an Early and Relatively Common Feature in Children with HNF1B Nephropathy but Its Utility as a Predictor of the Disease Is Limited

Marcin Kołbuc et al. J Clin Med. .

Abstract

Background: Hyperuricemia is recognized as an important feature of nephropathy, associated with a mutation in the hepatocyte nuclear factor-1B (HNF1B) gene, and could serve as a useful marker of the disease. However, neither a causal relationship nor its predictive value have been proven. The purpose of this study was to assess this in children with renal malformations, both with (mut+) and without HNF1B mutations (mut-).

Methods: We performed a retrospective analysis of clinical characteristics of pediatric patients tested for HNF1B mutations, collected in a national registry.

Results: 108 children were included in the study, comprising 43 mut+ patients and 65 mut- subjects. Mean sUA was higher and hyperuricemia more prevalent (42.5% vs. 15.4%) in HNF1B carriers. The two groups were similar with respect to respect to age, sex, anthropometric parameters, hypertension, and renal function. Renal function, fractional excretion of uric acid and parathyroid hormone level were independent predictors of sUA. The potential of hyperuricemia to predict mutation was low, and addition of hyperuricemia to a multivariate logistic regression model did not increase its accuracy.

Conclusions: Hyperuricemia is an early and common feature of HNF1B nephropathy. A strong association of sUA with renal function and parathyroid hormone limits its utility as a reliable marker to predict HNF1B mutation among patients with kidney anomalies.

Keywords: FEUA; HNF1B; PTH; hyperuricemia; renal function; uric acid.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Scatter plots of serum uric acid (sUA) concentrations showing trends with age in children harboring HNF1B mutations (mut+, blue triangles) versus those without mutations (red dots). Boys (a) and girls (b) are presented separately with age-adjusted upper limits of reference values applied as dashed lines.
Figure 2
Figure 2
Correlations between serum uric acid (sUA) concentrations and estimated glomerular filtration rate (eGFR) (a) and fractional excretion of uric acid (FEUA) (b) in individuals with HNF1B mutations (mut+, blue triangles) and those who were negative for mutations (mut-, red dots).
Figure 3
Figure 3
Fractional excretion of uric acid (FEUA) according to age (a) versus estimated glomerular filtration rate (eGFR) (b) in the HNF1B positive cohort (mut+, blue triangles) and HNF1B negative cohort (mut-, red dots).
See this image and copyright information in PMC

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