Chest configuration in children and adolescents with infantile nephropathic cystinosis compared with other chronic kidney disease entities and its clinical determinants
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Chest configuration in children and adolescents with infantile nephropathic cystinosis compared with other chronic kidney disease entities and its clinical determinants. / Müller, Sophia; Kluck, Rika; Jagodzinski, Celina; Brügelmann, Malina; Hohenfellner, Katharina; Büscher, Anja; Kemper, Markus J; Fröde, Kerstin; Oh, Jun; Billing, Heiko; Thumfart, Julia; Weber, Lutz T; Acham-Roschitz, Birgit; Arbeiter, Klaus; Tönshoff, Burkhard; Hagenberg, Martina; Pavičić, Leo; Haffner, Dieter; Zivicnjak, Miroslav.
in: PEDIATR NEPHROL, Jahrgang 38, Nr. 12, 12.2023, S. 3989-3999.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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TY - JOUR
T1 - Chest configuration in children and adolescents with infantile nephropathic cystinosis compared with other chronic kidney disease entities and its clinical determinants
AU - Müller, Sophia
AU - Kluck, Rika
AU - Jagodzinski, Celina
AU - Brügelmann, Malina
AU - Hohenfellner, Katharina
AU - Büscher, Anja
AU - Kemper, Markus J
AU - Fröde, Kerstin
AU - Oh, Jun
AU - Billing, Heiko
AU - Thumfart, Julia
AU - Weber, Lutz T
AU - Acham-Roschitz, Birgit
AU - Arbeiter, Klaus
AU - Tönshoff, Burkhard
AU - Hagenberg, Martina
AU - Pavičić, Leo
AU - Haffner, Dieter
AU - Zivicnjak, Miroslav
N1 - © 2023. The Author(s).
PY - 2023/12
Y1 - 2023/12
N2 - BACKGROUND: Infantile nephropathic cystinosis (INC) is a systemic lysosomal storage disease causing intracellular cystine accumulation, resulting in renal Fanconi syndrome, progressive kidney disease (CKD), rickets, malnutrition, and myopathy. An INC-specific disproportionately diminished trunk length compared to leg length poses questions regarding the functionality of the trunk.METHODS: Thus, we prospectively investigated thoracic dimensions and proportions, as well as their clinical determinants in 44 pediatric patients with INC with CKD stages 1-5 and 97 age-matched patients with CKD of other etiology between the ages of 2-17 years. A total of 92 and 221 annual measurements of patients with INC and CKD, respectively, were performed, and associations between anthropometric and clinical parameters were assessed using linear mixed-effects models.RESULTS: Patients with INC exhibited altered chest dimensions that were distinct from CKD controls, characterized by markedly increased chest depth to height and chest depth to chest width ratio z-scores (> 1.0), while those of patients with CKD were only mildly affected (z-score within ± 1.0). Ratio z-scores differed significantly between both patient groups from 2-6 years of age onward. The degree of chest disproportion in INC patients was significantly associated with both the degree of CKD and tubular dysfunction (e.g., low serum phosphate and bicarbonate) across three different age groups (2-6, 7-12, and 13-17 years).CONCLUSION: Our data show an INC-specific alteration in thoracic shape from early childhood onward, which is distinct from CKD of other etiologies, suggesting early childhood subclinical changes of the musculoskeletal unit of the thoracic cage, which are associated with kidney function. A higher resolution version of the Graphical abstract is available as Supplementary information.
AB - BACKGROUND: Infantile nephropathic cystinosis (INC) is a systemic lysosomal storage disease causing intracellular cystine accumulation, resulting in renal Fanconi syndrome, progressive kidney disease (CKD), rickets, malnutrition, and myopathy. An INC-specific disproportionately diminished trunk length compared to leg length poses questions regarding the functionality of the trunk.METHODS: Thus, we prospectively investigated thoracic dimensions and proportions, as well as their clinical determinants in 44 pediatric patients with INC with CKD stages 1-5 and 97 age-matched patients with CKD of other etiology between the ages of 2-17 years. A total of 92 and 221 annual measurements of patients with INC and CKD, respectively, were performed, and associations between anthropometric and clinical parameters were assessed using linear mixed-effects models.RESULTS: Patients with INC exhibited altered chest dimensions that were distinct from CKD controls, characterized by markedly increased chest depth to height and chest depth to chest width ratio z-scores (> 1.0), while those of patients with CKD were only mildly affected (z-score within ± 1.0). Ratio z-scores differed significantly between both patient groups from 2-6 years of age onward. The degree of chest disproportion in INC patients was significantly associated with both the degree of CKD and tubular dysfunction (e.g., low serum phosphate and bicarbonate) across three different age groups (2-6, 7-12, and 13-17 years).CONCLUSION: Our data show an INC-specific alteration in thoracic shape from early childhood onward, which is distinct from CKD of other etiologies, suggesting early childhood subclinical changes of the musculoskeletal unit of the thoracic cage, which are associated with kidney function. A higher resolution version of the Graphical abstract is available as Supplementary information.
U2 - 10.1007/s00467-023-06058-x
DO - 10.1007/s00467-023-06058-x
M3 - SCORING: Journal article
C2 - 37415042
VL - 38
SP - 3989
EP - 3999
JO - PEDIATR NEPHROL
JF - PEDIATR NEPHROL
SN - 0931-041X
IS - 12
ER -
