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, Stéphane Decramer, Martine Besouw, Manel Perelló Carrascosa, Claudio La Scola, Francesco Trepiccione, Gema Ariceta, Aurélie Hummel, Claire Dossier, John A Sayer, Martin Konrad, Mandy G Keijzer-Veen Show all

Nephrol Dial Transplant | Published : 2020

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 (±1.0), yet there was increased prevalence of obesity (body mas..

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