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
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
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.
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