Treatment and long-term outcome in primary nephrogenic diabetes insipidus.

AQP2 AVPR2 chronic kidney disease flow uropathy nephrogenic diabetes insipidus

Journal

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association

ISSN: 1460-2385

Titre abrégé: Nephrol Dial Transplant

Pays: England

ID NLM: 8706402

Informations de publication

Date de publication:
26 Dec 2020

Historique:

received: 10 05 2020

entrez: 28 12 2020

pubmed: 29 12 2020

medline: 29 12 2020

Statut: aheadofprint

Résumé

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.

Sections du résumé

BACKGROUND BACKGROUND

Primary nephrogenic diabetes insipidus (NDI) is a rare disorder and little is known about treatment practices and long-term outcome.

METHODS METHODS

Paediatric and adult nephrologists contacted through European professional organizations entered data in an online form.

RESULTS 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 CONCLUSIONS

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.

Identifiants

DOI: 10.1093/ndt/gfaa243 PMID: 33367818

pubmed: 33367818

pii: 6053087

doi: 10.1093/ndt/gfaa243

pii:

doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

Investigateurs

Anna Wasilewska (A)

Germana Longo (G)

Laura Espinosa (L)

Marius Miglinas (M)

Ramona Stroescu (R)

Shafa Huseynova (S)

Stella Stabouli (S)

Vijaya Sathyanarayana (V)

Andreea G Andronesi (AG)

Deirdre Hahn (D)

Deepak Sharma (D)

Edita Petrosyan (E)

Eleni Frangou (E)

Nilufar Mohebbi (N)

Nida Temizkan Dinçel (NT)

Philippe Braconnier (P)

Rodney D Gilbert (RD)

Adamu Sambo (A)

Velibor Tasic (V)

Thomas Henne (T)