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Open Access 10-01-2024 | Chronic Kidney Disease | Original Article

Development of a tool for predicting HNF1B mutations in children and young adults with congenital anomalies of the kidneys and urinary tract

Authors: Marcin Kołbuc, Mateusz F. Kołek, Rafał Motyka, Beata Bieniaś, Sandra Habbig, Kathrin Burgmaier, Larisa Prikhodina, Svetlana Papizh, Velibor Tasic, Christine Okorn, Maria Szczepańska, Katarzyna Kiliś-Pstrusińska, Anna Wasilewska, Piotr Adamczyk, Marcin Tkaczyk, Małgorzata Pańczyk-Tomaszewska, Monika Miklaszewska, Krzysztof Pawlaczyk, Ewelina Bukowska-Olech, Aleksander Jamsheer, Augustina Jankauskiene, Jens König, Hae Il Cheong, Yo Han Ahn, Sophie Kaspar, Przemysław Sikora, Bodo B. Beck, Marcin Zaniew

Published in: Pediatric Nephrology | Issue 6/2024

Abstract

Background

We aimed to develop a tool for predicting HNF1B mutations in children with congenital abnormalities of the kidneys and urinary tract (CAKUT).

Methods

The clinical and laboratory data from 234 children and young adults with known HNF1B mutation status were collected and analyzed retrospectively. All subjects were randomly divided into a training (70%) and a validation set (30%). A random forest model was constructed to predict HNF1B mutations. The recursive feature elimination algorithm was used for feature selection for the model, and receiver operating characteristic curve statistics was used to verify its predictive effect.

Results

A total of 213 patients were analyzed, including HNF1B-positive (mut + , n = 109) and HNF1B-negative (mut − , n = 104) subjects. The majority of patients had mild chronic kidney disease. Kidney phenotype was similar between groups, but bilateral kidney anomalies were more frequent in the mut + group. Hypomagnesemia and hypermagnesuria were the most common abnormalities in mut + patients and were highly selective of HNF1B. Hypomagnesemia based on age-appropriate norms had a better discriminatory value than the age-independent cutoff of 0.7 mmol/l. Pancreatic anomalies were almost exclusively found in mut + patients. No subjects had hypokalemia; the mean serum potassium level was lower in the HNF1B cohort. The abovementioned, discriminative parameters were selected for the model, which showed a good performance (area under the curve: 0.85; sensitivity of 93.67%, specificity of 73.57%). A corresponding calculator was developed for use and validation.

Conclusions

This study developed a simple tool for predicting HNF1B mutations in children and young adults with CAKUT.

Graphical abstract

Available only for authorised users

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Title: Development of a tool for predicting HNF1B mutations in children and young adults with congenital anomalies of the kidneys and urinary tract
Authors: Marcin Kołbuc
Mateusz F. Kołek
Rafał Motyka
Beata Bieniaś
Sandra Habbig
Kathrin Burgmaier
Larisa Prikhodina
Svetlana Papizh
Velibor Tasic
Christine Okorn
Maria Szczepańska
Katarzyna Kiliś-Pstrusińska
Anna Wasilewska
Piotr Adamczyk
Marcin Tkaczyk
Małgorzata Pańczyk-Tomaszewska
Monika Miklaszewska
Krzysztof Pawlaczyk
Ewelina Bukowska-Olech
Aleksander Jamsheer
Augustina Jankauskiene
Jens König
Hae Il Cheong
Yo Han Ahn
Sophie Kaspar
Przemysław Sikora
Bodo B. Beck
Marcin Zaniew
Publication date: 10-01-2024
Publisher: Springer Berlin Heidelberg
Keywords: Chronic Kidney Disease
Hypokalemia
Published in: Pediatric Nephrology / Issue 6/2024
Print ISSN: 0931-041X
Electronic ISSN: 1432-198X
DOI: https://doi.org/10.1007/s00467-023-06262-9

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Springer Medicine

Development of a tool for predicting HNF1B mutations in children and young adults with congenital anomalies of the kidneys and urinary tract

Abstract

Background

Methods

Results

Conclusions

Graphical abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Methods

Results

Conclusions

Graphical abstract

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