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

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<sup>2</sup> during childhood and adolescence in the overall cohort, ranging from 0.5 to 2.2 ml/min per 1.73 m<sup>2</sup> 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.

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Publication Details

Journal
Kidney International
Published
2025-02-06
DOI
https://doi.org/10.1016/j.kint.2025.01.023
Citations
3
Primary Topic
Genetic and Kidney Cyst Diseases
Type
article
Field-Weighted Citation Impact
5.45

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article

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

Matthias Galiano, Alev Yılmaz, Nakysa Hooman, Anja Buescher et al.
3 citations
Kidney International
Genetic and Kidney Cyst Diseases
5.45
article

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

Matthias Galiano, Alev Yılmaz, Nakysa Hooman, Anja Buescher, Łukasz Obrycki, Lutz T. Weber, Katarzyna Taranta‐Janusz, Marc Fila, Samuel Kilian, Bahriye Atmış, Guenter Klaus, Klaus Arbeiter, Stella Stabouli, Florian Erger, Marcus Weitz, Franz Schaefer, Karsten Häeffner, Max C. Liebau, Monika Miklaszewska, Matko Marlais, Laura Massella, Dieter Haffner, Kathrin Burgmaier, Bruno Ranchin, İbrahim Gökçe, İsmail Dursun, Djalila Mekahli, Elke Wühl, Jens König, Bärbel Lange-Sperandio, Yılmaz Tabel, Olivia Boyer, Gordana Miloševski‐Lomić, Barbara Seitz, Jörg Dötsch
article en
3 citations

Abstract

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<sup>2</sup> during childhood and adolescence in the overall cohort, ranging from 0.5 to 2.2 ml/min per 1.73 m<sup>2</sup> 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.

Kidney InternationalVol. 107(5)
Jagiellonian University (PL), Hôpital Necker-Enfants Malades (FR), Medical University of Białystok (PL), Philipps University of Marburg (DE), Iran University of Medical Sciences (IR), University of Cologne (DE), Friedrich-Alexander-Universität Erlangen-Nürnberg (DE), Université de Montpellier (FR), Inonu University (TR), Université Paris Cité (FR), Aristotle University of Thessaloniki (GR), Heidelberg University (DE), Universitätsklinikum Gießen und Marburg (DE), Great Ormond Street Hospital (GB), University Medical Center Freiburg (DE), University Hospital Heidelberg (DE), Medizinische Hochschule Hannover (DE), Hôpital Femme Mère Enfant (FR), Institut Necker Enfants Malades (FR), München Klinik Schwabing (DE), Zimmer Biomet (Germany) (DE), University Hospital Münster (DE), Children's Memorial Health Institute (PL), Essen University Hospital (DE), Bambino Gesù Children's Hospital (IT), University Children's Hospital Tübingen (DE), University Children's Hospital, Belgrade (RS), Hôpital Arnaud de Villeneuve (FR), University Hospital Cologne (DE), University College London (GB), Cukurova University (TR), Istanbul University (TR), Marmara University (TR), Medical University of Vienna (AT), Ludwig-Maximilians-Universität München (DE), Deggendorf Institute of Technology (DE), Heidelberg University (US), Erciyes University (TR), KU Leuven (BE)
Universität Heidelberg, Westfälische Wilhelms-Universität Münster, Universitätsklinikum Köln
Good health and well-being
Openalex Percentile: Top 6%
Genetic and Kidney Cyst Diseases
5.45
DOIOpen Access PDFOpenAlex
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