International expert consensus statement on the diagnosis and management of congenital nephrogenic diabetes insipidus (arginine vasopressin resistance).


Journal

Nature reviews. Nephrology
ISSN: 1759-507X
Titre abrégé: Nat Rev Nephrol
Pays: England
ID NLM: 101500081

Informations de publication

Date de publication:
22 Oct 2024
Historique:
accepted: 13 09 2024
medline: 23 10 2024
pubmed: 23 10 2024
entrez: 22 10 2024
Statut: aheadofprint

Résumé

Congenital nephrogenic diabetes insipidus (NDI; also known as arginine vasopressin resistance) is a rare inherited disorder of water homeostasis, caused by insensitivity of the distal nephron to arginine vasopressin. Consequently, the kidney loses its ability to concentrate urine, which leads to polyuria, polydipsia and the risk of hypertonic dehydration. The diagnosis and management of NDI are very challenging and require an integrated, multidisciplinary approach. Here, we present 36 recommendations for diagnosis, treatment and follow-up in both children and adults, as well as emergency management, genetic counselling and family planning, for patients with NDI. These recommendations were formulated and graded by an international group of experts in NDI from paediatric and adult nephrology, urology and clinical genetics from the European Rare Kidney Disease Reference Network and the European Society of Paediatric Nephrology, as well as patient advocates, and were validated by a voting panel in a Delphi process. The goal of these recommendations is to provide guidance to health care professionals who care for patients with NDI and to patients and their families. In addition, we emphasize the need for further research on different aspects of this potentially life-threatening disorder to support the development of evidence-based guidelines in the future.

Identifiants

pubmed: 39438674
doi: 10.1038/s41581-024-00897-z
pii: 10.1038/s41581-024-00897-z
doi:

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Informations de copyright

© 2024. Springer Nature Limited.

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Auteurs

Elena Levtchenko (E)

Department of Paediatric Nephrology, Emma Children's Hospital, Amsterdam University Medical Centre, Amsterdam, The Netherlands. e.n.levtchenko@amsterdamumc.nl.

Gema Ariceta (G)

Department of Paediatric Nephrology, Hospital Vall d' Hebron, Autonomous University of Barcelona, Barcelona, Spain.

Olga Arguedas Flores (O)

Department of Paediatric Urology, Emma Children's Hospital, Amsterdam University Medical Centre, Amsterdam, The Netherlands.

Daniel G Bichet (DG)

Nephrology Service, Hôpital du Sacré-Coeur de Montréal, Departments of Medicine, Pharmacology and Physiology, University of Montreal, Québec, Canada.

Detlef Bockenhauer (D)

Paediatric Nephrology, University Hospital and Catholic University Leuven, Leuven, Belgium.
Great Ormond Street Hospital for Children NHS Foundation Trust and Department of Renal Medicine, University College London, London, UK.

Francesco Emma (F)

Division of Nephrology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

Ewout J Hoorn (EJ)

Division of Nephrology and Transplantation, Department of Internal Medicine, Erasmus Medical Center, University Medical Center Rotterdam, Rotterdam, The Netherlands.

Linda Koster-Kamphuis (L)

Department of Paediatric Nephrology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands.

Tom Nijenhuis (T)

Department of Nephrology, Radboud University Medical Center, Nijmegen, The Netherlands.

Francesco Trepiccione (F)

Department of Medical Translational Sciences, University of Campania "Luigi Vanvitelli", Naples, Italy.
Biogem Institute of Molecular Biology and Genetics, Ariano Irpino, Italy.

Rosa Vargas-Poussou (R)

Department of Genomic Medicine for Rare Diseases, Reference Centre for Hereditary Kidney Diseases of Children and Adults MARHEA, Assistance Publique Hôpitaux de Paris - Hôpital Européen Georges Pompidou, Paris, France.

Stephen B Walsh (SB)

London Tubular Centre, Department of Renal Medicine, Department of Renal Medicine, University College London, London, UK.

Nine V A M Knoers (NVAM)

Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands. v.v.a.m.knoers@umcg.nl.

Classifications MeSH