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

Autor:	Lopez-Garcia SC; Department of Renal Medicine, University College London, London,UK.; Paediatric Nephrology Unit, Great Ormond Street Hospital, London,UK., Downie ML; Department of Renal Medicine, University College London, London,UK.; Paediatric Nephrology Unit, Great Ormond Street Hospital, London,UK., Kim JS; Paediatric Nephrology Unit, Great Ormond Street Hospital, London,UK., Boyer O; Department of Pediatric Nephrology, Reference Center for Hereditary Kidney Diseases (MARHEA), Laboratory of Hereditary Kidney Diseases, Imagine Institute, INSERM U1163, Paris Descartes University, Necker Hospital, Assistance Publique - Hôpitaux de Paris, Paris,France., Walsh SB; Department of Renal Medicine, University College London, London,UK., Nijenhuis T; Department of Nephrology, Radboud Institute for Molecular Life Sciences, Radboudumc Expertisecentrum Zeldzame Nierziekten, Radboud University Medical Center, Nijmegen, TheNetherlands., Papizh S; Department of Hereditary and Acquired Kidney Diseases, Research and Clinical Institute for Pediatrics, Pirogov Russian National Research Medical University, Moscow, Russian Federation., Yadav P; Department of Hereditary and Acquired Kidney Diseases, Research and Clinical Institute for Pediatrics, Pirogov Russian National Research Medical University, Moscow, Russian Federation., Reynolds BC; Department of Hereditary and Acquired Kidney Diseases, Research and Clinical Institute for Pediatrics, Pirogov Russian National Research Medical University, Moscow, Russian Federation., Decramer S; Department of Paediatric Nephrology, Leeds Teaching Hospitals NHS Trust, Leeds,UK., Besouw M; Department of Paediatric Nephrology, Royal Hospital for Children, Glasgow,UK., Perelló Carrascosa M; Department of Nephrology, Vall d'Hebron University Hospital, Barcelona,Spain., La Scola C; Nephrology and Dialysis Unit, Department of Woman, Child and Urological Diseases, Azienda Ospedaliero-Universitaria Sant'Orsola-Malpighi, Bologna,Italy., Trepiccione F; Department of Translational Medical Sciences, University of Campania 'L.Vanvitelli', Naples,Italy., Ariceta G; Department of Paediatric Nephrology, Hospital Universitario Vall d'Hebron, Barcelona,Spain., Hummel A; Department of Nephrology and Transplantation, Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte, Necker Hospital, Assistance Publique - Hôpitaux de Paris, Paris,France., Dossier C; Department of Paediatric Nephrology, Hôpital Robert-Debre, Paris,France., Sayer JA; Translational and Clinical Medicine Institute, Faculty of Medical Sciences, Newcastle University, Central Parkway, Newcastle Upon Tyne,UK.; Renal Services, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne,UK.; NIHR Newcastle Biomedical Research Centre, Newcastle University, Newcastle upon Tyne,UK., Konrad M; Department of Paediatric Nephrology, University Children's Hospital, Münster,Germany., Keijzer-Veen MG; Department of Pediatric Nephrology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, TheNetherlands., Awan A; Department of Paediatric Nephrology, Temple Street Children's University Hospital, Dublin,Ireland., Basu B; Division of Pediatric Nephrology, Department of Pediatrics, N. R. S. Medical College & Hospital, Kolkata,India., Chauveau D; Department of Nephrology and Transplantation, Centre de Référence des Maladies Rénales Rares, Centre Hospitalier Universitaire de Toulouse, Université Toulouse-III, Toulouse,France., Madariaga L; Department of Paediatric Nephrology, Cruces University Hospital, IIS Biocruces-Bizkaia, University of the Basque Country, Bizkaia,Spain., Koster-Kamphuis L; Department of Paediatric Nephrology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, TheNetherlands., Furlano M; Inherited Kidney Diseases, Nephrology Department, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Department of Medicine-Universitat Autónoma de Barcelona, REDinREN, Instituto de Investigación Carlos III, Barcelona,Spain., Zacchia M; Department of Translational Medical Sciences, University of Campania 'L.Vanvitelli', Naples,Italy., Marzuillo P; Department of Women, Child and of General and Specialized Surgery, Università degli Studi della Campania 'Luigi Vanvitelli', Naples,Italy., Tse Y; Department of Paediatric Nephrology, Great North Children's Hospital, Newcastle Upon Tyne,UK., Dursun I; Department of Paediatrics, Division of Nephrology, Erciyes University Faculty of Medicine, Kayseri,Turkey., Pinarbasi AS; Department of Paediatrics, Division of Nephrology, Erciyes University Faculty of Medicine, Kayseri,Turkey., Tramma D; 4th Department of Pediatrics, School of Medicine, Faculty of Health Sciences, Aristotle University of Thessaloniki, Papageorgiou General Hospital, Thessaloniki,Greece., Hoorn EJ; Department of Internal Medicine, Division of Nephrology and Transplantation, Erasmus Medical Center, University Medical Center Rotterdam, Rotterdam, TheNetherlands., Gokce I; Department of Paediatric Nephrology, Marmara University, Faculty of Medicine, İstanbul,Turkey., Nicholls K; Department of Nephrology, Royal Melbourne Hospital, Parkville,Australia.; Department of Nephrology, University of Melbourne, Parkville,Australia., Eid LA; Department of Paediatric Nephrology, Dubai Hospital-Dubai Health Authority, Dubai, United Arab Emirates., Sartz L; Department of Clinical Sciences, Paediatric nephrology, Skåne University hospital, Lund University, Lund,Sweden., Riordan M; Department of Paediatric Nephrology, Temple Street Children's University Hospital, Dublin,Ireland., Hooman N; Aliasghar Clinical Research Development Center (ACRDC), Aliasghar Children Hospital, Iran University of Medical Sciences, Tehran,Iran., Printza N; 1st Paediatric Department, Aristotle University, Thessaloniki,Greece., Bonny O; Service of Nephrology, Rue du Bugnon 17, Lausanne University Hospital, Lausanne,Switzerland., Arango Sancho P; Department of Paediatric Nephrology and Transplantation, Hospital Sant Joan De Déu, Esplugues De Llobregat, Barcelona,Spain., Schild R; Department of Paediatrics, University Medical Center Hamburg-Eppendorf, Hamburg,Germany., Sinha R; Division of Paediatric Nephrology, Institute of Child Health, Kolkata,India., Guarino S; Department of Women, Child and of General and Specialized Surgery, Università degli Studi della Campania 'Luigi Vanvitelli', Naples,Italy., Martinez Jimenez V; Department of Nephrology, Hospital Clínico Universitario Virgen de la Arrixaca, Murcia,Spain., Rodríguez Peña L; Section of Medical Genetics, Department of Pediatrics, Hospital Clínico Universitario Virgen de la Arrixaca, Murcia,Spain., Belge H; Center of Human Genetics, Institut de Pathologie et Genetique, Gosselies,Belgium., Devuyst O; Institute of Physiology, Zurich Center for Integrative Human Physiology (ZHIP), Mechanism of Inherited Kidney Disorders Group, University of Zurich, Zurich,Switzerland., Wlodkowski T; Department of Paediatric Nephrology, University Children's Hospital, Heidelberg,Germany., Emma F; Division of Nephrology, Department of Pediatric Subspecialties, Bambino Gesù Children's Hospital, IRCCS, Rome,Italy., Levtchenko E; Department of development and regeneration, Laboratory of Paediatric Nephrology, University Hospital, Leuven,Belgium., Knoers NVAM; Department of Genetics, Center for Molecular Medicine, University Medical Centre Utrecht, Utrecht University, Utrecht, TheNetherlands.; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, TheNetherlands., Bichet DG; Nephrology Service, Department of Medicine, Pharmacology and Physiology, University of Montreal, Montreal, Quebec,Canada., Schaefer F; Department of Paediatric Nephrology, University Children's Hospital, Heidelberg,Germany., Kleta R; Department of Renal Medicine, University College London, London,UK.; Paediatric Nephrology Unit, Great Ormond Street Hospital, London,UK., Bockenhauer D; Department of Renal Medicine, University College London, London,UK.; Paediatric Nephrology Unit, Great Ormond Street Hospital, London,UK.
Jazyk:	angličtina
Zdroj:	Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association [Nephrol Dial Transplant] 2020 Dec 26. Date of Electronic Publication: 2020 Dec 26.
DOI:	10.1093/ndt/gfaa243
Abstrakt:	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. (© The Author(s) 2020. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved.)
Databáze:	MEDLINE
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