Journal article
Treatment and long-term outcome in primary nephrogenic diabetes insipidus
Sergio C Lopez-Garcia, Mallory L Downie, Ji Soo Kim, Olivia Boyer, Stephen B Walsh, Tom Nijenhuis, Svetlana Papizh, Pallavi Yadav, Ben C Reynolds, Stephane Decramer, Martine Besouw, Manel Perello Carrascosa, Claudio La Scola, Francesco Trepiccione, Gema Ariceta, Aurelie Hummel, Claire Dossier, John A Sayer, Martin Konrad, Mandy G Keijzer-Veen Show all
Nephrology Dialysis Transplantation | Oxford University Press | Published : 2023
DOI: 10.1093/ndt/gfaa243
Abstract
Background. Primary nephrogenic diabetes insipidus (NDI) is a rare disorder and little is known about treatment practices and long-term outcome. Methods. Paediatric and adult nephrologists contacted through European professional organizations entered data in an online form. Results. Data were collected on 315 patients (22 countries, male 84%, adults 35%). Mutation testing had been performed in 270 (86%); pathogenic variants were identified in 258 (96%). The median (range) age at diagnosis was 0.6 (0.0–60) years and at last follow-up 14.0 (0.1–70) years. In adults, height was normal with a mean (standard deviation) score of -0.39 (61.0), yet there was increased prevalence of obesity (body mas..
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Funding Acknowledgements
This work was supported by The European Reference Network for Rare Kidney Diseases. S.C.L.-G. is supported by the William Harvey Research Institute. D.B. is supported by the NIHR Biomedical Research Centre at GOSH/ICH.