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Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis
INTRODUCTION: Nephronophthisis (NPH) comprises a group of rare disorders accounting for up to 10% of end-stage kidney disease (ESKD) in children. Prediction of kidney prognosis poses a major challenge. We assessed differences in kidney survival, impact of variant type, and the association of clinica...
Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9459005/ https://www.ncbi.nlm.nih.gov/pubmed/36090483 http://dx.doi.org/10.1016/j.ekir.2022.05.035 |
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author | König, Jens Christian Karsay, Rebeka Gerß, Joachim Schlingmann, Karl-Peter Dahmer-Heath, Mareike Telgmann, Anna-Katharina Kollmann, Sabine Ariceta, Gema Gillion, Valentine Bockenhauer, Detlef Bertholet-Thomas, Aurélia Mastrangelo, Antonio Boyer, Olivia Lilien, Marc Decramer, Stéphane Schanstra, Joost. P. Pohl, Martin Schild, Raphael Weber, Stefanie Hoefele, Julia Drube, Jens Cetiner, Metin Hansen, Matthias Thumfart, Julia Tönshoff, Burkhard Habbig, Sandra Liebau, Max Christoph Bald, Martin Bergmann, Carsten Pennekamp, Petra Konrad, Martin |
author_facet | König, Jens Christian Karsay, Rebeka Gerß, Joachim Schlingmann, Karl-Peter Dahmer-Heath, Mareike Telgmann, Anna-Katharina Kollmann, Sabine Ariceta, Gema Gillion, Valentine Bockenhauer, Detlef Bertholet-Thomas, Aurélia Mastrangelo, Antonio Boyer, Olivia Lilien, Marc Decramer, Stéphane Schanstra, Joost. P. Pohl, Martin Schild, Raphael Weber, Stefanie Hoefele, Julia Drube, Jens Cetiner, Metin Hansen, Matthias Thumfart, Julia Tönshoff, Burkhard Habbig, Sandra Liebau, Max Christoph Bald, Martin Bergmann, Carsten Pennekamp, Petra Konrad, Martin |
author_sort | König, Jens Christian |
collection | PubMed |
description | INTRODUCTION: Nephronophthisis (NPH) comprises a group of rare disorders accounting for up to 10% of end-stage kidney disease (ESKD) in children. Prediction of kidney prognosis poses a major challenge. We assessed differences in kidney survival, impact of variant type, and the association of clinical characteristics with declining kidney function. METHODS: Data was obtained from 3 independent sources, namely the network for early onset cystic kidney diseases clinical registry (n = 105), an online survey sent out to the European Reference Network for Rare Kidney Diseases (n = 60), and a literature search (n = 218). RESULTS: A total of 383 individuals were available for analysis: 116 NPHP1, 101 NPHP3, 81 NPHP4 and 85 NPHP11/TMEM67 patients. Kidney survival differed between the 4 cohorts with a highly variable median age at onset of ESKD as follows: NPHP3, 4.0 years (interquartile range 0.3–12.0); NPHP1, 13.5 years (interquartile range 10.5–16.5); NPHP4, 16.0 years (interquartile range 11.0–25.0); and NPHP11/TMEM67, 19.0 years (interquartile range 8.7–28.0). Kidney survival was significantly associated with the underlying variant type for NPHP1, NPHP3, and NPHP4. Multivariate analysis for the NPHP1 cohort revealed growth retardation (hazard ratio 3.5) and angiotensin-converting enzyme inhibitor (ACEI) treatment (hazard ratio 2.8) as 2 independent factors associated with an earlier onset of ESKD, whereas arterial hypertension was linked to an accelerated glomerular filtration rate (GFR) decline. CONCLUSION: The presented data will enable clinicians to better estimate kidney prognosis of distinct patients with NPH and thereby allow personalized counseling. |
format | Online Article Text |
id | pubmed-9459005 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Elsevier |
record_format | MEDLINE/PubMed |
spelling | pubmed-94590052022-09-10 Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis König, Jens Christian Karsay, Rebeka Gerß, Joachim Schlingmann, Karl-Peter Dahmer-Heath, Mareike Telgmann, Anna-Katharina Kollmann, Sabine Ariceta, Gema Gillion, Valentine Bockenhauer, Detlef Bertholet-Thomas, Aurélia Mastrangelo, Antonio Boyer, Olivia Lilien, Marc Decramer, Stéphane Schanstra, Joost. P. Pohl, Martin Schild, Raphael Weber, Stefanie Hoefele, Julia Drube, Jens Cetiner, Metin Hansen, Matthias Thumfart, Julia Tönshoff, Burkhard Habbig, Sandra Liebau, Max Christoph Bald, Martin Bergmann, Carsten Pennekamp, Petra Konrad, Martin Kidney Int Rep Clinical Research INTRODUCTION: Nephronophthisis (NPH) comprises a group of rare disorders accounting for up to 10% of end-stage kidney disease (ESKD) in children. Prediction of kidney prognosis poses a major challenge. We assessed differences in kidney survival, impact of variant type, and the association of clinical characteristics with declining kidney function. METHODS: Data was obtained from 3 independent sources, namely the network for early onset cystic kidney diseases clinical registry (n = 105), an online survey sent out to the European Reference Network for Rare Kidney Diseases (n = 60), and a literature search (n = 218). RESULTS: A total of 383 individuals were available for analysis: 116 NPHP1, 101 NPHP3, 81 NPHP4 and 85 NPHP11/TMEM67 patients. Kidney survival differed between the 4 cohorts with a highly variable median age at onset of ESKD as follows: NPHP3, 4.0 years (interquartile range 0.3–12.0); NPHP1, 13.5 years (interquartile range 10.5–16.5); NPHP4, 16.0 years (interquartile range 11.0–25.0); and NPHP11/TMEM67, 19.0 years (interquartile range 8.7–28.0). Kidney survival was significantly associated with the underlying variant type for NPHP1, NPHP3, and NPHP4. Multivariate analysis for the NPHP1 cohort revealed growth retardation (hazard ratio 3.5) and angiotensin-converting enzyme inhibitor (ACEI) treatment (hazard ratio 2.8) as 2 independent factors associated with an earlier onset of ESKD, whereas arterial hypertension was linked to an accelerated glomerular filtration rate (GFR) decline. CONCLUSION: The presented data will enable clinicians to better estimate kidney prognosis of distinct patients with NPH and thereby allow personalized counseling. Elsevier 2022-06-16 /pmc/articles/PMC9459005/ /pubmed/36090483 http://dx.doi.org/10.1016/j.ekir.2022.05.035 Text en © 2022 International Society of Nephrology. Published by Elsevier Inc. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). |
spellingShingle | Clinical Research König, Jens Christian Karsay, Rebeka Gerß, Joachim Schlingmann, Karl-Peter Dahmer-Heath, Mareike Telgmann, Anna-Katharina Kollmann, Sabine Ariceta, Gema Gillion, Valentine Bockenhauer, Detlef Bertholet-Thomas, Aurélia Mastrangelo, Antonio Boyer, Olivia Lilien, Marc Decramer, Stéphane Schanstra, Joost. P. Pohl, Martin Schild, Raphael Weber, Stefanie Hoefele, Julia Drube, Jens Cetiner, Metin Hansen, Matthias Thumfart, Julia Tönshoff, Burkhard Habbig, Sandra Liebau, Max Christoph Bald, Martin Bergmann, Carsten Pennekamp, Petra Konrad, Martin Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis |
title | Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis |
title_full | Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis |
title_fullStr | Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis |
title_full_unstemmed | Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis |
title_short | Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis |
title_sort | refining kidney survival in 383 genetically characterized patients with nephronophthisis |
topic | Clinical Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9459005/ https://www.ncbi.nlm.nih.gov/pubmed/36090483 http://dx.doi.org/10.1016/j.ekir.2022.05.035 |
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