학술논문
Treatment and long-term outcome in primary nephrogenic diabetes insipidus.
Document Type
Article
Author
Lopez-Garcia, Sergio C; Downie, Mallory L; Kim, Ji Soo; Boyer, Olivia; Walsh, Stephen B; Nijenhuis, Tom; Papizh, Svetlana; Yadav, Pallavi; Reynolds, Ben C; Decramer, Stéphane; Besouw, Martine; Carrascosa, Manel Perelló; Scola, Claudio La; Trepiccione, Francesco; Ariceta, Gema; Hummel, Aurélie; Dossier, Claire; Sayer, John A; Konrad, Martin; Keijzer-Veen, Mandy G
Source
Subject
*MENTAL illness
*DIABETES insipidus
*ATTENTION-deficit hyperactivity disorder
*CHRONIC kidney failure
*FULL-time employment
*BODY mass index
*
*
*
*
*
Language
ISSN
0931-0509
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 mass index >30 kg/m2; 41% versus 16% European average; P < 0.001). There was also increased prevalence of chronic kidney disease (CKD) Stage ≥2 in children (32%) and adults (48%). Evidence of flow uropathy was present in 38%. A higher proportion of children than adults (85% versus 54%; P < 0.001) received medications to reduce urine output. Patients ≥25 years were less likely to have a university degree than the European average (21% versus 35%; P = 0.003) but full-time employment was similar. Mental health problems, predominantly attention-deficit hyperactivity disorder (16%), were reported in 36% of patients. Conclusion This large NDI cohort shows an overall favourable outcome with normal adult height and only mild to moderate CKD in most. Yet, while full-time employment was similar to the European average, educational achievement was lower, and more than half had urological and/or mental health problems. [ABSTRACT FROM AUTHOR]