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

被引：0

作者：

Bruegelmann, Malina ^{[1
]}

Mueller, Sophia ^{[1
]}

Bohlen, Alina V. ^{[1
]}

Hohenfellner, Katharina ^{[2
]}

Buescher, Anja ^{[3
]}

Kemper, Markus J. ^{[4
]}

Froede, Kerstin ^{[1
]}

Kanzelmeyer, Nele ^{[1
]}

Oh, Jun ^{[5
]}

Billing, Heiko ^{[6
]}

Gellermann, Jutta ^{[7
]}

Mueller, Dominik ^{[7
]}

Weber, Lutz T. ^{[8
,9
]}

Acham-Roschitz, Birgit ^{[10
]}

Arbeiter, Klaus ^{[11
]}

Toenshoff, Burkhard ^{[12
]}

Hagenberg, Martina ^{[13
]}

Zebec, Mislav S. ^{[14
]}

Haffner, Dieter ^{[1
]}

Zivicnjak, Miroslav ^{[1
]}

机构：

[1] Hannover Med Sch, Childrens Hosp, Dept Pediat Kidney Liver & Metab Dis, Carl Neuberg Str 1, D-30625 Hannover, Germany

[2] Childrens Hosp, Div Pediat Nephrol, Rosenheim, Germany

[3] Univ Hosp Essen, Dept Pediat 2, Essen, Germany

[4] Asklepios Hosp, Hamburg, Germany

[5] Univ Childrens Hosp Hamburg, Dept Pediat Nephrol, Hamburg, Germany

[6] RHK Clin Ludwigsburg, Clin Pediat & Adolescent Med, Ludwigsburg, Germany

[7] Charite Univ Med Berlin, Dept Pediat Gastroenterol Nephrol & Metab Dis, Berlin, Germany

[8] Univ Cologne, Childrens & Adolescents Hosp, Fac Med, Pediat Nephrol, Cologne, Germany

[9] Univ Cologne, Univ Hosp, Childrens & Adolescents Hosp, Cologne, Germany

[10] Med Univ Graz, Dept Pediat, Graz, Austria

[11] Med Univ Vienna, Div Pediat Nephrol & Gastroenterol, Vienna, Austria

[12] Univ Childrens Hosp Heidelberg, Dept Pediat 1, Heidelberg, Germany

[13] Childrens Hosp St Elisabeth & St Barbara, Halle, Saale, Germany

[14] Inst Anthropol Res, Zagreb, Croatia

来源：

PEDIATRIC NEPHROLOGY | 2024年 / 39卷 / 10期

关键词：

Infantile nephropathic cystinosis; Chronic kidney disease; Body fat mass; Thoracic proportions; Growth; Body mass index; CROATIAN CHILDREN; NATURAL-HISTORY; GROWTH-PATTERNS; AGE; HEIGHT; ADULTS;

D O I：

10.1007/s00467-024-06421-6

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

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 (triangle 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 A higher resolution version of the Graphical abstract is available as Supplementary information

引用

页码：3067 / 3077

页数：11

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