Treatment and long-term outcome in primary nephrogenic diabetes insipidus

Details

Serval ID
serval:BIB_BD4F8353A96D
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Treatment and long-term outcome in primary nephrogenic diabetes insipidus
Journal
Nephrology Dialysis Transplantation
Author(s)
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, Perelló Carrascosa Manel, La Scola Claudio, Trepiccione Francesco, Ariceta Gema, Hummel Aurélie, Dossier Claire, Sayer John A, Konrad Martin, Keijzer-Veen Mandy G, Awan Atif, Basu Biswanath, Chauveau Dominique, Madariaga Leire, Koster-Kamphuis Linda, Furlano Mónica, Zacchia Miriam, Marzuillo Pierluigi, Tse Yincent, Dursun Ismail, Pinarbasi Ayse Seda, Tramma Despoina, Hoorn Ewout J, Gokce Ibrahim, Nicholls Kathleen, Eid Loai A, Sartz Lisa, Riordan Michael, Hooman Nakysa, Printza Nikoleta, Bonny Olivier, Arango Sancho Pedro, Schild Raphael, Sinha Rajiv, Guarino Stefano, Martinez Jimenez Victor, Rodríguez Peña Lidia, Belge Hendrica, Devuyst Olivier, Wlodkowski Tanja, Emma Francesco, Levtchenko Elena, Knoers Nine V A M, Bichet Daniel G, Schaefer Franz, Kleta Robert, Wasilewska Anna, Longo Germana, Espinosa Laura, Miglinas Marius, Stroescu Ramona, Huseynova Shafa, Stabouli Stella, Sathyanarayana Vijaya, Andronesi Andreea G, Hahn Deirdre, Sharma Deepak, Petrosyan Edita, Frangou Eleni, Mohebbi Nilufar, Dinçel Nida Temizkan, Braconnier Philippe, Gilbert Rodney D, Sambo Adamu, Tasic Velibor, Henne Thomas, Bockenhauer Detlef
Contributor(s)
Wasilewska A., Longo G., Espinosa L., Miglinas M., Stroescu R., Huseynova S., Stabouli S., Sathyanarayana V., Andronesi A.G., Hahn D., Sharma D., Petrosyan E., Frangou E., Mohebbi N., Dinçel N.T., Braconnier P., Gilbert R.D., Sambo A., Tasic V., Henne T.
ISSN
0931-0509
1460-2385
ISSN-L
0931-0509
Publication state
Published
Issued date
29/09/2023
Peer-reviewed
Oui
Volume
38
Number
10
Pages
2120-2130
Language
english
Abstract
Primary nephrogenic diabetes insipidus (NDI) is a rare disorder and little is known about treatment practices and long-term outcome.
Paediatric and adult nephrologists contacted through European professional organizations entered data in an online form.
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.
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.
Keywords
Transplantation, Nephrology
Pubmed
Web of science
Open Access
Yes
Create date
11/01/2021 9:37
Last modification date
23/04/2024 5:59
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