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

Autor: Kołbuc M; Department of Pediatrics, University of Zielona Góra, Zielona Góra, Poland. M.Kolbuc@inm.uz.zgora.pl., Kołek MF; Medical University of Vienna, Vienna, Austria., Motyka R; Department of Pediatrics, University of Zielona Góra, Zielona Góra, Poland., Bieniaś B; Department of Pediatric Nephrology, Medical University of Lublin, Lublin, Poland., Habbig S; Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Burgmaier K; Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Faculty of Applied Healthcare Science, Deggendorf Institute of Technology, Deggendorf, Germany., Prikhodina L; Division of Inherited & Acquired Kidney Diseases, Veltishev Research Clinical Institute for Pediatrics & Children Surgery, Pirogov Russian National Research Medical University, Moscow, Russia., Papizh S; Division of Inherited & Acquired Kidney Diseases, Veltishev Research Clinical Institute for Pediatrics & Children Surgery, Pirogov Russian National Research Medical University, Moscow, Russia., Tasic V; Medical School Skopje, University Children's Hospital, 1000, Skopje, North Macedonia., Okorn C; Department of Pediatric Nephrology, University Hospital Essen, Essen, Germany., Szczepańska M; Department of Pediatrics, Faculty of Medical Sciences in Zabrze, Medical University of Silesia, Katowice, Poland., Kiliś-Pstrusińska K; Department of Pediatric Nephrology, Wrocław Medical University, Wrocław, Poland., Wasilewska A; Department of Pediatric Nephrology, University Hospital, Białystok, Poland., Adamczyk P; Department of Pediatrics, Faculty of Medical Sciences in Katowice, Medical University of Silesia, Katowice, Poland., Tkaczyk M; Department of Pediatrics, Immunology and Nephrology, Polish Mother's Memorial Hospital Research Institute, Łódź, Poland., Pańczyk-Tomaszewska M; Department of Pediatrics and Nephrology, Medical University of Warsaw, Warsaw, Poland., Miklaszewska M; Department of Pediatric Nephrology and Hypertension, Jagiellonian University Medical College, Kraków, Poland., Pawlaczyk K; Department of Nephrology, Transplantology and Internal Medicine, Poznan University of Medical Sciences, Poznań, Poland., Bukowska-Olech E; Department of Medical Genetics, Poznan University of Medical Sciences, Poznań, Poland., Jamsheer A; Department of Medical Genetics, Poznan University of Medical Sciences, Poznań, Poland.; Centers for Medical Genetics GENESIS, Poznań, Poland., Jankauskiene A; Pediatric Center, Institute of Clinical Medicine, Vilnius University, Vilnius, Lithuania., König J; Department of General Pediatrics, University Children's Hospital Münster, Münster, Germany., Cheong HI; Department of Pediatrics, Seoul Red Cross Hospital, Seoul, South Korea., Ahn YH; Department of Pediatrics, Seoul National University College of Medicine, Seoul, South Korea., Kaspar S; Institute of Human Genetics and Center for Molecular Medicine Cologne, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Sikora P; Department of Pediatric Nephrology, Medical University of Lublin, Lublin, Poland., Beck BB; Institute of Human Genetics and Center for Molecular Medicine Cologne, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Zaniew M; Department of Pediatrics, University of Zielona Góra, Zielona Góra, Poland. M.Zaniew@inm.uz.zgora.pl.
Jazyk: angličtina
Zdroj: Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2024 Jun; Vol. 39 (6), pp. 1847-1858. Date of Electronic Publication: 2024 Jan 10.
DOI: 10.1007/s00467-023-06262-9
Abstrakt: 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.
(© 2024. The Author(s).)
Databáze: MEDLINE
Externí odkaz: