Early childhood height-adjusted total kidney volume as a risk marker of kidney survival in ARPKD

Autor: Nalcacioglu, Hulya, Dunand, Oliver, Mastrangelo, Antonio, Murer, Luisa, Emma, Francesco, Ruzgiene, Dovile, Taranta-Janusz, Katarzyna, Balasz-Chmielewska, Irena, Miklaszewska, Monika, Stanczyk, Malgorzata, Sikora, Przemyslaw, Kowalewska, Claudia, Szczepanska, Maria, Teixeira, Ana, Rachisan, Andreea, Papachristou, Fotios, Paripović, Dušan, Prikhodina, Larisa, Jilani, Houweyda, Bayazit, Aysun Karabay, Soylu, Alper, Candan, Cengiz, Sever, Lale, Emre, Sevinc, Cicek, Neslihan, Akinci, Nurver, Mir, Sevgi, Poyrazoğlu, Hakan M., Tabel, Yilmaz, Mencarelli, Francesca, Burgmaier, Kathrin, Kilian, Samuel, Arbeiter, Klaus, Atmis, Bahriye, Büscher, Anja, Derichs, Ute, Dursun, Ismail, Duzova, Ali, Eid, Loai Akram, Galiano, Matthias, Gessner, Michaela, Gokce, Ibrahim, Haeffner, Karsten, Hooman, Nakysa, Jankauskiene, Augustina, Körber, Friederike, Longo, Germana, Massella, Laura, Mekahli, Djalila, Miloševski-Lomić, Gordana, Rus, Rina, Shroff, Rukshana, Stabouli, Stella, Weber, Lutz T., Wygoda, Simone, Yilmaz, Alev, Zachwieja, Katarzyna, Zagozdzon, Ilona, Dötsch, Jörg, Schaefer, Franz, Liebau, Max Christoph, Potemkina, Alexandra, Ranguelov, Nadejda, Collard, Laure, De Mul, Aurélie, Feldkoetter, Markus, Seeman, Tomas, Zieg, Jakub, Thumfart, Julia, Grundmann, Franziska, Buchholz, Björn, Pape, Lars, Gross, Oliver, Patzer, Ludwig, Schild, Raphael, Haffner, Dieter, Bernhardt, Wanja, Wuehl, Elke, Henn, Michael, Halbritter, Jan, Klaus, Günter, Lechner, Felix, Lange-Sperandio, Bärbel, Uetz, Barbara, Benz, Marcus, König, Jens, Staude, Hagen, Wurm, Donald, Bald, Martin, Soliman, Neveen A., Ariceta, Gema, Rodriguez, Juan David Gonzalez, de la Cerda Ojeda, Francisco, Harambat, Jerome, Ranchin, Bruno, Fila, Marc, Dossier, Claire, Boyer, Olivia, Marlais, Matko
Přispěvatelé: UCL - (SLuc) Département de pédiatrie, Ruzgienė, Dovilė, Burgmaier, Kathrin, Kilian, Samuel, Arbeiter, Klaus, Atmis, Bahriye, Buescher, Anja, Derichs, Ute, Dursun, Ismail, Duzova, Ali, Eid, Loai Akram, Galiano, Matthias, Gessner, Michaela, Gokce, Ibrahim, Haeffner, Karsten, Hooman, Nakysa, Jankauskiene, Augustina, Koerber, Friederike, Longo, Germana, Massella, Laura, Mekahli, Djalila, Milosevski-Lomic, Gordana, Nalcacioglu, Hulya, Rus, Rina, Shroff, Rukshana, Stabouli, Stella, Weber, Lutz T., Wygoda, Simone, Yilmaz, Alev, Zachwieja, Katarzyna, Zagozdzon, Ilona, Doetsch, Joerg, Schaefer, Franz, Liebau, Max Christoph
Jazyk: angličtina
Rok vydání: 2021
Předmět:
Liver Cirrhosis
Male
glomerulus filtration rate
Medizin
cell surface receptor
preschool child
DISEASE
Cohort Studies
Chronic kidney disease
Polycystic kidney disease
Medicine
genetics
Longitudinal Studies
Child
pathophysiology
Ultrasonography
Kidney
Multidisciplinary
longitudinal study
organ size
chronic kidney failure
biological marker
cohort analysis
Prognosis
Autosomal Recessive Polycystic Kidney Disease
PKHD1 protein
human
Multidisciplinary Sciences
medicine.anatomical_structure
female
Quartile
Child
Preschool
Cohort
Disease Progression
Science & Technology - Other Topics
Glomerular Filtration Rate
medicine.medical_specialty
kidney
Adolescent
Science
Urology
Renal function
Kidney Volume
Receptors
Cell Surface
Article
Humans
ddc:610
human
Renal Insufficiency
Chronic
Polycystic Kidney
Autosomal Recessive
Paediatric kidney disease
Science & Technology
business.industry
echography
Infant
medicine.disease
mortality
kidney polycystic disease
disease exacerbation
physiology
business
metabolism
Biomarkers
Kidney disease
Zdroj: Scientific Reports, Vol. 11, no.1, p. 1-10 (2021)
Scientific Reports, Vol 11, Iss 1, Pp 1-10 (2021)
Scientific Reports
Scientific reports, Berlin : Nature Research, 2021, vol. 11, iss. 1, art. no. 21677, p. [1-10]
ISSN: 2045-2322
Popis: Autosomal recessive polycystic kidney disease (ARPKD) is characterized by bilateral fibrocystic changes resulting in pronounced kidney enlargement. Impairment of kidney function is highly variable and widely available prognostic markers are urgently needed as a base for clinical decision-making and future clinical trials. In this observational study we analyzed the longitudinal development of sonographic kidney measurements in a cohort of 456 ARPKD patients from the international registry study ARegPKD. We furthermore evaluated correlations of sonomorphometric findings and functional kidney disease with the aim to describe the natural disease course and to identify potential prognostic markers. Kidney pole-to-pole (PTP) length and estimated total kidney volume (eTKV) increase with growth throughout childhood and adolescence despite individual variability. Height-adjusted PTP length decreases over time, but such a trend cannot be seen for height-adjusted eTKV (haeTKV) where we even observed a slight mean linear increase of 4.5 ml/m per year during childhood and adolescence for the overall cohort. Patients with two null PKHD1 variants had larger first documented haeTKV values than children with missense variants (median (IQR) haeTKV 793 (450–1098) ml/m in Null/null, 403 (260–538) ml/m in Null/mis, 230 (169–357) ml/m in Mis/mis). In the overall cohort, estimated glomerular filtration rate decreases with increasing haeTKV (median (IQR) haeTKV 210 (150–267) ml/m in CKD stage 1, 472 (266–880) ml/m in stage 5 without kidney replacement therapy). Strikingly, there is a clear correlation between haeTKV in the first eighteen months of life and kidney survival in childhood and adolescence with ten-year kidney survival rates ranging from 20% in patients of the highest to 94% in the lowest quartile. Early childhood haeTKV may become an easily obtainable prognostic marker of kidney disease in ARPKD, e.g. for the identification of patients for clinical studies. © 2021, The Author(s).
ESPN 2014.2; PKD Foundation, PKDF; Bundesministerium für Bildung und Forschung, BMBF: 01GM1515, 01GM1903; Universität zu Köln, UoC; Marga und Walter Boll-Stiftung; Universitätsklinikum Köln
We thank the German Society for Pediatric Nephrology (GPN), the ESCAPE Network, and the European Society for Paediatric Nephrology (ESPN; Working Groups CAKUT and Inherited Renal Diseases) for their support. ML was supported by grants of the GPN, ESPN (Grant ESPN 2014.2), and the German PKD foundation. KB and ML were supported by the Medical Faculty of the University of Cologne (Koeln Fortune program), and the Marga and Walter Boll-Foundation. FS and ML are supported by the German Federal Ministry of Research and Education (BMBF grant 01GM1515 and 01GM1903). This work was generated within the European Reference Network for Rare Kidney Disorders (ERKNet).
Databáze: OpenAIRE
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