A risk score to predict kidney survival in patients with autosomal recessive  polycystic kidney disease at the age of two months.

Burgmaier, Kathrin; Kilian, Samuel; Arbeiter, Klaus; Atmis, Bahriye; Boyer, Olivia; Buescher, Anja; Dursun, Ismail; Erger, Florian; Fila, Marc; Galiano, Matthias; Gokce, Ibrahim; Haeffner, Karsten; Haffner, Dieter; Hooman, Nakysa; Klaus, Guenter; König, Jens; Lange-Sperandio, Bärbel; Marlais, Matko; Massella, Laura; Mekahli, Djalila; Miklaszewska, Monika; Miloševski-Lomić, Gordana; Obrycki, Lukasz; Ranchin, Bruno; Seitz, Barbara; Stabouli, Stella; Tabel, Yilmaz; Taranta-Janusz, Katarzyna; Weber, Lutz Thorsten; Weitz, Marcus; Wühl, Elke; Yilmaz, Alev; Dötsch, Jörg; Schaefer, Franz; Liebau, Max Christoph; ARegPKD, consortium

doi:10.1016/j.kint.2025.01.023

Article (Scientific journals)

A risk score to predict kidney survival in patients with autosomal recessive polycystic kidney disease at the age of two months.

Burgmaier, Kathrin; Kilian, Samuel; Arbeiter, Klaus et al.

2025 • In Kidney International, 107 (5), p. 903-915

Peer Reviewed verified by ORBi

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https://hdl.handle.net/2268/341519

DOI
10.1016/j.kint.2025.01.023

PubMed
39922379

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Keywords :

AYI8EX34EU (Creatinine); Humans; Polycystic Kidney, Autosomal Recessive/complications/physiopathology/genetics/diagnosis/mortality; Male; Female; Disease Progression; Infant; Risk Factors; Glomerular Filtration Rate; Young Adult; Risk Assessment; Adolescent; Child, Preschool; Child; Kidney/physiopathology; Adult; Gestational Age; Infant, Newborn; Age Factors; Creatinine/blood; Time Factors; Proportional Hazards Models; Prognosis; ciliopathies; fibrocystic hepatorenal disease; fibrocystin; kidney survival; polycystic kidney disease

Abstract :

[en] Autosomal recessive polycystic kidney disease (ARPKD) is a severe hepatorenal fibrocystic disorder. Its rareness and the variability of disease courses have been major obstacles for the establishment of clinical trials on treatment of kidney disease in ARPKD. In this observational study we characterized kidney disease progression in a very large cohort of up to 658 patients with the clinical diagnosis of ARPKD and identified risk factors associated with rapid kidney disease progression. The estimated probability of kidney failure by the age of 20 years was 50.1% (95% confidence interval 42.2%‒57.0%), with earlier kidney failure in specific subgroups. Mean yearly estimated glomerular filtration rate decline after the first year of life was 1.3 ml/min per 1.73 m(2) during childhood and adolescence in the overall cohort, ranging from 0.5 to 2.2 ml/min per 1.73 m(2) in various subgroups. Furthermore, we developed prediction models for the relative risk of early kidney failure to be applied at the age of two months in daily clinical life. The finally chosen predictor set for a score based on a Cox model encompassed five factors: gestational age at oligo- or anhydramnios, gestational age at birth, functional genotype, serum creatinine (mg/dl) as well as documentation of arterial hypertension at the age of two months. The derived simple prognostic score showed good prediction performance, especially in the first three years of life. It reliably identified patients who are not at risk of early kidney failure and may be helpful to identify patients at risk of more rapid disease progression that could benefit from novel therapeutic interventions.

Disciplines :

Pediatrics
Urology & nephrology

Author, co-author :

Burgmaier, Kathrin; Department of Pediatrics, Faculty of Medicine, University Hospital Cologne and University of Cologne, Cologne, Germany, Faculty of Applied Healthcare Science, Deggendorf Institute of Technology, Deggendorf, Germany.

Kilian, Samuel; Institute of Medical Biometry, University of Heidelberg, Heidelberg, Germany.

Arbeiter, Klaus; Department of Paediatrics and Adolescent Medicine, Medical University Vienna, Vienna, Austria.

Atmis, Bahriye; Department of Pediatric Nephrology, Cukurova University Faculty of Medicine, Adana, Turkiye.

Boyer, Olivia; Pediatric Nephrology and Kidney Transplantation, Hôpital Necker Enfants Malades, MARHEA, Institut Imagine, Université Paris Cité, Paris, France.

Buescher, Anja; Department of Pediatrics II, University Hospital Essen, Essen, Germany.

Dursun, Ismail; Department of Pediatric Nephrology, Erciyes University, Faculty of Medicine, Kayseri, Turkiye.

Erger, Florian; Institute of Human Genetics, Faculty of Medicine, University Hospital Cologne and University of Cologne, Cologne, Germany, Center for Rare Diseases, University Hospital Cologne and University of Cologne, Cologne, Germany.

Fila, Marc; Pediatric Nephrology Unit, Centre Hospitalier Universitaire Arnaud de Villeneuve-Université de Montpellier, Montpellier, France.

Galiano, Matthias; Department of Pediatrics and Adolescent Medicine, University of Erlangen-Nürnberg, Erlangen, Germany.

More authors (26 more)

Other collaborator :

Akinci, Nurver

Eid, Loai Akram

Ariceta, Gema

Bald, Martin

Benz, Marcus

Bernhardt, Wanja

Bienias, Beata

Buchholz, Björn

Afonso, Alberto Caldas

Candan, Cengiz

More authors (48 more)

Language :

English

Title :

A risk score to predict kidney survival in patients with autosomal recessive polycystic kidney disease at the age of two months.

Publication date :

May 2025

Journal title :

Kidney International

ISSN :

0085-2538

eISSN :

1523-1755

Publisher :

Elsevier, Us ny

Volume :

107

Issue :

Pages :

903-915

Peer reviewed :

Peer Reviewed verified by ORBi

Commentary :

Available on ORBi :

since 16 February 2026

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