Publication: Treatment and long-term outcome in primary nephrogenic diabetes insipidus
Treatment and long-term outcome in primary nephrogenic diabetes insipidus
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Lopez-Garcia, S. C., Downie, M. L., Kim, J. S., Boyer, O., Walsh, S. B., Nijenhuis, T., Papizh, S., Yadav, P., Reynolds, B. C., Decramer, S., Besouw, M., Perelló Carrascosa, M., La Scola, C., Trepiccione, F., Ariceta, G., Hummel, A., Dossier, C., Sayer, J. A., Konrad, M., … et al. (2023). Treatment and long-term outcome in primary nephrogenic diabetes insipidus. Nephrology, Dialysis, Transplantation, 38(10), 2120–2130. https://doi.org/10.1093/ndt/gfaa243
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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 1
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Lopez-Garcia, S. C., Downie, M. L., Kim, J. S., Boyer, O., Walsh, S. B., Nijenhuis, T., Papizh, S., Yadav, P., Reynolds, B. C., Decramer, S., Besouw, M., Perelló Carrascosa, M., La Scola, C., Trepiccione, F., Ariceta, G., Hummel, A., Dossier, C., Sayer, J. A., Konrad, M., … et al. (2023). Treatment and long-term outcome in primary nephrogenic diabetes insipidus. Nephrology, Dialysis, Transplantation, 38(10), 2120–2130. https://doi.org/10.1093/ndt/gfaa243
