Treatment and long-term outcome in primary nephrogenic diabetes insipidus
Sergio Camilo Lopez-Garcia, Mallory L. Downie, Ji Soo Kim, Olivia Boyer, Stephen B. Walsh, Tom Nijenhuis, Svetlana Papizh, Pallavi Yadav, B. 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, Atif Awan, Biswanath Basu, Dominique Chauveau, Leire Madariaga, Linda Koster‐Kamphuis, Mónica Furlano, Miriam Zacchia, Pierluigi Marzuillo, Yincent Tse, İsmail Dursun, Ayşe Seda Pınarbaşı, Despoina Tramma, Ewout J. Hoorn, İbrahim Gökçe, Kathy Nicholls, Loai Eid, Lisa Sartz, Michael Riordan, Nakysa Hooman, Nikoleta Printza, Olivier Bonny, Pedro Arango Sancho, Raphael Schild, Rajiv Sinha, Stefano Guarino, Víctor Martínez Jiménez, Lidia Rodríguez Peña, Hendrica Belge, Olivier Devuyst, Tanja Wlodkowski, Francesco Emma, Elena Levtchenko, Nine V.A.M. Knoers, Daniel G. Bichet, Franz Schaefer, Robert Kleta, Anna Wasilewska, Germana Longo, Laura Espinosa, Marius Miglinas, Ramona Stroescu, Shafa Huseynova, Stella Stabouli, Vijaya Sathyanarayana, Andreea Andronesi, Deirdré Hahn, Deepak Sharma, E. K. Petrosyan, Eleni Frangou, Nilufar Mohebbi, Nida Dinçel, Philippe Braconnier, Rodney D. Gilbert, Adamu Sambo, Velibor Tasić, Thomas Henne, Detlef Böckenhauer
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.