Development of a tool for predicting HNF1B mutations in children and young adults with congenital anomalies of the kidneys and urinary tract
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Published:2024-01-10
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ISSN:0931-041X
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Container-title:Pediatric Nephrology
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language:en
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Short-container-title:Pediatr Nephrol
Author:
Kołbuc Marcin, Kołek Mateusz F., Motyka Rafał, Bieniaś Beata, Habbig Sandra, Burgmaier Kathrin, Prikhodina Larisa, Papizh Svetlana, Tasic Velibor, Okorn Christine, Szczepańska Maria, Kiliś-Pstrusińska Katarzyna, Wasilewska Anna, Adamczyk Piotr, Tkaczyk Marcin, Pańczyk-Tomaszewska Małgorzata, Miklaszewska Monika, Pawlaczyk Krzysztof, Bukowska-Olech Ewelina, Jamsheer Aleksander, Jankauskiene Augustina, König Jens, Cheong Hae Il, Ahn Yo Han, Kaspar Sophie, Sikora Przemysław, Beck Bodo B., Zaniew MarcinORCID
Abstract
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
Funder
University of Zielona Góra
Publisher
Springer Science and Business Media LLC
Subject
Nephrology,Pediatrics, Perinatology and Child Health
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