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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.
- Source :
-
Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2024 Oct; Vol. 39 (10), pp. 3067-3077. Date of Electronic Publication: 2024 Jun 08. - Publication Year :
- 2024
-
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.<br />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).<br />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.<br />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.<br /> (© 2024. The Author(s).)
- Subjects :
- Humans
Child
Male
Adolescent
Female
Child, Preschool
Prospective Studies
Kidney pathology
Disease Progression
Cysteamine therapeutic use
Cysteamine administration & dosage
Cystinosis therapy
Cystinosis pathology
Cystinosis diagnosis
Cystinosis complications
Renal Insufficiency, Chronic therapy
Renal Insufficiency, Chronic pathology
Renal Replacement Therapy statistics & numerical data
Renal Replacement Therapy methods
Subjects
Details
- Language :
- English
- ISSN :
- 1432-198X
- Volume :
- 39
- Issue :
- 10
- Database :
- MEDLINE
- Journal :
- Pediatric nephrology (Berlin, Germany)
- Publication Type :
- Academic Journal
- Accession number :
- 38850407
- Full Text :
- https://doi.org/10.1007/s00467-024-06421-6