Treatment and long-term outcome in primary nephrogenic diabetes insipidus
(2023) In Nephrology Dialysis Transplantation 38(10). p.2120-2130- 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 (61.0), yet there was increased prevalence of obesity (body mass index >30 kg/m2; 41% versus 16% European... (More)
- 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. © 2023 Oxford University Press. All rights reserved. (Less)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/74d7bbb8-28c0-4c86-b417-a733e568068c
- author
- Lopez-Garcia, S.C. ; Sartz, L. LU and Kleta, Robert
- author collaboration
- organization
- publishing date
- 2023
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- AQP2, AVPR2, chronic kidney disease, flow uropathy, nephrogenic diabetes insipidus, desmopressin, adult, AQP2 gene, Article, AVPR2 gene, bladder dysfunction, body mass, caloric intake, cohort analysis, cross-sectional study, cystectomy, cystic fibrosis, delayed puberty, diabetes mellitus, dysuria, estimated glomerular filtration rate, female, follow up, forced expiratory volume, full time employment, gene, gene mutation, genetic screening, glomerulus filtration rate, health care system, human, insulin blood level, intellectual impairment, major clinical study, male, mental health, nephrolithiasis, obesity, osmolality, peritoneal dialysis, polyuria, prevalence, questionnaire, retrospective study, risk factor, urinalysis, urinary tract disease, urolithiasis
- in
- Nephrology Dialysis Transplantation
- volume
- 38
- issue
- 10
- pages
- 11 pages
- publisher
- Oxford University Press
- external identifiers
-
- scopus:85177775617
- ISSN
- 0931-0509
- DOI
- 10.1093/ndt/gfaa243
- language
- English
- LU publication?
- yes
- id
- 74d7bbb8-28c0-4c86-b417-a733e568068c
- date added to LUP
- 2024-01-16 14:10:04
- date last changed
- 2024-01-16 14:11:29
@article{74d7bbb8-28c0-4c86-b417-a733e568068c,
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 (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. © 2023 Oxford University Press. All rights reserved.}},
author = {{Lopez-Garcia, S.C. and Sartz, L. and Kleta, Robert}},
issn = {{0931-0509}},
keywords = {{AQP2; AVPR2; chronic kidney disease; flow uropathy; nephrogenic diabetes insipidus; desmopressin; adult; AQP2 gene; Article; AVPR2 gene; bladder dysfunction; body mass; caloric intake; cohort analysis; cross-sectional study; cystectomy; cystic fibrosis; delayed puberty; diabetes mellitus; dysuria; estimated glomerular filtration rate; female; follow up; forced expiratory volume; full time employment; gene; gene mutation; genetic screening; glomerulus filtration rate; health care system; human; insulin blood level; intellectual impairment; major clinical study; male; mental health; nephrolithiasis; obesity; osmolality; peritoneal dialysis; polyuria; prevalence; questionnaire; retrospective study; risk factor; urinalysis; urinary tract disease; urolithiasis}},
language = {{eng}},
number = {{10}},
pages = {{2120--2130}},
publisher = {{Oxford University Press}},
series = {{Nephrology Dialysis Transplantation}},
title = {{Treatment and long-term outcome in primary nephrogenic diabetes insipidus}},
url = {{http://dx.doi.org/10.1093/ndt/gfaa243}},
doi = {{10.1093/ndt/gfaa243}},
volume = {{38}},
year = {{2023}},
}