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Open Access 08-06-2024 | Chronic Kidney Disease | Original Article

Morphological changes and their associations with clinical parameters in children with nephropathic cystinosis and chronic kidney disease prior to kidney replacement therapy over 25 years

Authors: Malina Brügelmann, Sophia Müller, Alina V. Bohlen, Katharina Hohenfellner, Anja Büscher, Markus J. Kemper, Kerstin Fröde, Nele Kanzelmeyer, Jun Oh, Heiko Billing, Jutta Gellermann, Dominik Müller, Lutz T. Weber, Birgit Acham-Roschitz, Klaus Arbeiter, Burkhard Tönshoff, Martina Hagenberg, Mislav S. Žebec, Dieter Haffner, Miroslav Zivicnjak

Published in: Pediatric Nephrology

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Abstract

Background

Infantile nephropathic cystinosis (INC) is a rare lysosomal storage disorder, mostly and often firstly affecting the kidneys, together with impaired disharmonious growth and rickets, eventually resulting in progressive chronic kidney disease (CKD). With the introduction of cysteamine therapy, most pediatric patients reach adulthood with no need for kidney replacement therapy. Still, detailed changes in INC patients’ clinical and morphological presentation over the past decades have not yet been thoroughly investigated.

Methods

Two groups with a respective total of 64 children with INC and 302 children with CKD, both treated conservatively and aged 2 to 18 years, were prospectively observed in the time span from 1998 to 2022 with 1186 combined annual clinical and morphological examinations clustered into two measurement periods (1998 to 2015 and ≥ 2016).

Results

In INC patients, thoracic proportion indices remained markedly increased, whereas body fat stores remained decreased over the past 25 years (+ 1 vs. below ± 0 z-score, respectively). Their CKD peers presented with overall improved growth, general harmonization of body proportions, and improved body fat stores, while INC patients only presented with an isolated significant increase in leg length over time (∆0.36 z-score). eGFR adjusted for age did not significantly change over the past 25 years in both groups. Alkaline phosphatase (ALP) showed a significant decrease in CKD patients over time, while remaining above normal levels in INC patients.

Conclusions

Disproportionate thoracic shape and impaired body fat stores remain the most characteristic morphological traits in INC patients over the past 25 years, while causal mechanisms remain unclear.

Graphical Abstract

Appendix
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Metadata
Title
Morphological changes and their associations with clinical parameters in children with nephropathic cystinosis and chronic kidney disease prior to kidney replacement therapy over 25 years
Authors
Malina Brügelmann
Sophia Müller
Alina V. Bohlen
Katharina Hohenfellner
Anja Büscher
Markus J. Kemper
Kerstin Fröde
Nele Kanzelmeyer
Jun Oh
Heiko Billing
Jutta Gellermann
Dominik Müller
Lutz T. Weber
Birgit Acham-Roschitz
Klaus Arbeiter
Burkhard Tönshoff
Martina Hagenberg
Mislav S. Žebec
Dieter Haffner
Miroslav Zivicnjak
Publication date
08-06-2024
Publisher
Springer Berlin Heidelberg
Published in
Pediatric Nephrology
Print ISSN: 0931-041X
Electronic ISSN: 1432-198X
DOI
https://doi.org/10.1007/s00467-024-06421-6