Universität zu Köln

Kolbuc, Marcin, Bienias, Beata, Habbig, Sandra, Kolek, Mateusz F., Szczepanska, Maria ORCID: 0000-0002-6772-1983, Kilis-Pstrusinska, Katarzyna ORCID: 0000-0001-7352-6992, Wasilewska, Anna, Adamczyk, Piotr, Motyka, Rafal, Tkaczyk, Marcin ORCID: 0000-0003-1753-7560, Sikora, Przemyslaw ORCID: 0000-0002-5698-6863, Beck, Bodo B. and Zaniew, Marcin (2021). Hyperuricemia Is an Early and Relatively Common Feature in Children with HNF1B Nephropathy but Its Utility as a Predictor of the Disease Is Limited. J. Clin. Med., 10 (15). BASEL: MDPI. ISSN 2077-0383

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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.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Kolbuc, Marcin UNSPECIFIED UNSPECIFIED UNSPECIFIED Bienias, Beata UNSPECIFIED UNSPECIFIED UNSPECIFIED Habbig, Sandra UNSPECIFIED UNSPECIFIED UNSPECIFIED Kolek, Mateusz F. UNSPECIFIED UNSPECIFIED UNSPECIFIED Szczepanska, Maria UNSPECIFIED orcid.org/0000-0002-6772-1983 UNSPECIFIED Kilis-Pstrusinska, Katarzyna UNSPECIFIED orcid.org/0000-0001-7352-6992 UNSPECIFIED Wasilewska, Anna UNSPECIFIED UNSPECIFIED UNSPECIFIED Adamczyk, Piotr UNSPECIFIED UNSPECIFIED UNSPECIFIED Motyka, Rafal UNSPECIFIED UNSPECIFIED UNSPECIFIED Tkaczyk, Marcin UNSPECIFIED orcid.org/0000-0003-1753-7560 UNSPECIFIED Sikora, Przemyslaw UNSPECIFIED orcid.org/0000-0002-5698-6863 UNSPECIFIED Beck, Bodo B. UNSPECIFIED UNSPECIFIED UNSPECIFIED Zaniew, Marcin UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-597685
DOI:	10.3390/jcm10153265
Journal or Publication Title:	J. Clin. Med.
Volume:	10
Number:	15
Date:	2021
Publisher:	MDPI
Place of Publication:	BASEL
ISSN:	2077-0383
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language BLOOD-PRESSURE PERCENTILES; SERUM URATE; URIC-ACID; MUTATIONS; KIDNEY; GENE; PHENOTYPES; ANOMALIES Multiple languages Medicine, General & Internal Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/59768