Article
Author: Stabouli, Stella ; Downie, Mallory L ; Marzuillo, Pierluigi ; Tasic, Velibor ; Ariceta, Gema ; Sinha, Rajiv ; Wasilewska, Anna ; Tramma, Despoina ; Furlano, Mónica ; Nijenhuis, Tom ; Dossier, Claire ; Gokce, Ibrahim ; Dinçel, Nida Temizkan ; Henne, Thomas ; Andronesi, Andreea G ; Sartz, Lisa ; Guarino, Stefano ; Madariaga, Leire ; Bonny, Olivier ; Koster-Kamphuis, Linda ; Miglinas, Marius ; Tse, Yincent ; La Scola, Claudio ; Printza, Nikoleta ; Belge, Hendrica ; Martinez Jimenez, Victor ; Emma, Francesco ; Besouw, Martine ; Yadav, Pallavi ; Bichet, Daniel G ; Kleta, Robert ; Stroescu, Ramona ; Walsh, Stephen B ; Nicholls, Kathleen ; Mohebbi, Nilufar ; Reynolds, Ben C ; Chauveau, Dominique ; Braconnier, Philippe ; Levtchenko, Elena ; Konrad, Martin ; Perelló Carrascosa, Manel ; Rodríguez Peña, Lidia ; Devuyst, Olivier ; Frangou, Eleni ; Kim, Ji Soo ; Arango Sancho, Pedro ; Bockenhauer, Detlef ; Schaefer, Franz ; Schild, Raphael ; Keijzer-Veen, Mandy G ; Eid, Loai A ; Pinarbasi, Ayse Seda ; Espinosa, Laura ; Knoers, Nine V A M ; Petrosyan, Edita ; Sambo, Adamu ; Hummel, Aurélie ; Trepiccione, Francesco ; Boyer, Olivia ; Hoorn, Ewout J ; Hahn, Deirdre ; Sayer, John A ; Sathyanarayana, Vijaya ; Riordan, Michael ; Longo, Germana ; Wlodkowski, Tanja ; Dursun, Ismail ; Gilbert, Rodney D ; Hooman, Nakysa ; Awan, Atif ; Decramer, Stéphane ; Sharma, Deepak ; Papizh, Svetlana ; Lopez-Garcia, Sergio C ; Basu, Biswanath ; Huseynova, Shafa ; Zacchia, Miriam
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.