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Early childhood height-adjusted total kidney volume as a risk marker of kidney survival in ARPKD
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...
Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8568977/ https://www.ncbi.nlm.nih.gov/pubmed/34737334 http://dx.doi.org/10.1038/s41598-021-00523-z |
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author | 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 Nalcacioglu, Hulya Rus, Rina Shroff, Rukshana Stabouli, Stella Weber, Lutz T. Wygoda, Simone Yilmaz, Alev Zachwieja, Katarzyna Zagozdzon, Ilona Dötsch, Jörg Schaefer, Franz Liebau, Max Christoph |
author_facet | 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 Nalcacioglu, Hulya Rus, Rina Shroff, Rukshana Stabouli, Stella Weber, Lutz T. Wygoda, Simone Yilmaz, Alev Zachwieja, Katarzyna Zagozdzon, Ilona Dötsch, Jörg Schaefer, Franz Liebau, Max Christoph |
author_sort | Burgmaier, Kathrin |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-8568977 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Nature Publishing Group UK |
record_format | MEDLINE/PubMed |
spelling | pubmed-85689772021-11-05 Early childhood height-adjusted total kidney volume as a risk marker of kidney survival in ARPKD 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 Nalcacioglu, Hulya Rus, Rina Shroff, Rukshana Stabouli, Stella Weber, Lutz T. Wygoda, Simone Yilmaz, Alev Zachwieja, Katarzyna Zagozdzon, Ilona Dötsch, Jörg Schaefer, Franz Liebau, Max Christoph Sci Rep Article 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. Nature Publishing Group UK 2021-11-04 /pmc/articles/PMC8568977/ /pubmed/34737334 http://dx.doi.org/10.1038/s41598-021-00523-z Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . |
spellingShingle | Article 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 Nalcacioglu, Hulya Rus, Rina Shroff, Rukshana Stabouli, Stella Weber, Lutz T. Wygoda, Simone Yilmaz, Alev Zachwieja, Katarzyna Zagozdzon, Ilona Dötsch, Jörg Schaefer, Franz Liebau, Max Christoph Early childhood height-adjusted total kidney volume as a risk marker of kidney survival in ARPKD |
title | Early childhood height-adjusted total kidney volume as a risk marker of kidney survival in ARPKD |
title_full | Early childhood height-adjusted total kidney volume as a risk marker of kidney survival in ARPKD |
title_fullStr | Early childhood height-adjusted total kidney volume as a risk marker of kidney survival in ARPKD |
title_full_unstemmed | Early childhood height-adjusted total kidney volume as a risk marker of kidney survival in ARPKD |
title_short | Early childhood height-adjusted total kidney volume as a risk marker of kidney survival in ARPKD |
title_sort | early childhood height-adjusted total kidney volume as a risk marker of kidney survival in arpkd |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8568977/ https://www.ncbi.nlm.nih.gov/pubmed/34737334 http://dx.doi.org/10.1038/s41598-021-00523-z |
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