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Treatment and long-term outcome in primary nephrogenic diabetes insipidus

Lookup NU author(s): Professor John SayerORCiD, Dr Yincent TseORCiD


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© 2023 Oxford University Press. All rights reserved.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 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.

Publication metadata

Author(s): Lopez-Garcia SC, Downie ML, Kim JS, Boyer O, Walsh SB, Nijenhuis T, Papizh S, Yadav P, Reynolds BC, Decramer S, Besouw M, Carrascosa MP, Scola CL, Trepiccione F, Ariceta G, Hummel A, Dossier C, Sayer JA, Konrad M, Keijzer-Veen MG, Awan A, Basu B, Chauveau D, Madariaga L, Koster-Kamphuis L, Furlano M, Zacchia M, Marzuillo P, Tse Y, Dursun I, Pinarbasi AS, Tramma D, Hoorn EJ, Gokce I, Nicholls K, Eid LA, Sartz L, Riordan M, Hooman N, Printza N, Bonny O, Sancho PA, Schild R, Sinha R, Guarino S, Jimenez VM, Pena LR, Belge H, Devuyst O, Wlodkowski T, Emma F, Levtchenko E, Knoers NVAM, Bichet DG, Schaefer F, Kleta R, Bockenhauer D, Wasilewska A, Longo G, Espinosa L, Miglinas M, Stroescu R, Huseynova S, Stabouli S, Sathyanarayana V, Andronesi AG, Hahn D, Sharma D, Petrosyan E, Frangou E, Mohebbi N, Dincel NT, Braconnier P, Gilbert RD, Sambo A, Tasic V, Henne T

Publication type: Article

Publication status: Published

Journal: Nephrology Dialysis Transplantation

Year: 2023

Volume: 38

Issue: 10

Pages: 2120-2130

Print publication date: 01/10/2023

Online publication date: 26/12/2020

Acceptance date: 20/07/2020

ISSN (print): 0931-0509

ISSN (electronic): 1460-2385

Publisher: Oxford University Press


DOI: 10.1093/ndt/gfaa243

PubMed id: 33367818


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