Treatment and long-term outcome in primary distal renal tubular acidosis

Autor: Lopez-Garcia, Sergio Camilo, Emma, Francesco, Walsh, Stephen B, Fila, Marc, Hooman, Nakysa, Zaniew, Marcin, Bertholet-Thomas, Aurelia, Colussi, Giacomo, Burgmaier, Kathrin, Levtchenko, Elena, Sharma, Jyoti, Singhal, Jyoti, Soliman, Neveen A, Ariceta, Gema, Basu, Biswanath, Murer, Luisa, Tasic, Velibor, Tsygin, Alexey, Decramer, Stephane, Gil-Pena, Helena, Koster-Kamphuis, Linda, La Scola, Claudio, Gellermann, Jutta, Konrad, Martin, Lilien, Marc, Francisco, Telma, Tramma, Despoina, Trnka, Peter, Yuksel, Selcuk, Caruso, Maria Rosa, Chromek, Milan, Ekinci, Zelal, Gambaro, Giovanni, Kari, Jameela A, Koenig, Jens, Taroni, Francesca, Thumfart, Julia, Trepiccione, Francesco, Winding, Louise, Wuehl, Elke, Agbas, Ayse, Belkevich, Anna, Vargas-Poussou, Rosa, Blanchard, Anne, Conti, Giovanni, Boyer, Olivia, Dursun, Ismail, Pinarbasi, Ayse Seda, Melek, Engin, Miglinas, Marius, Novo, Robert, Mallett, Andrew, Milosevic, Danko, Szczepanska, Maria, Wente, Sarah, Cheong, Hae Il, Sinha, Rajiv, Gucev, Zoran, Dufek, Stephanie, Iancu, Daniela, Kleta, Robert, Schaefer, Franz, Bockenhauer, Detlef, Peco-Antic, Amira, Kaur, Amrit, Paglialunga, Antonino, Servais, Aude, Lutovac, Branko, Hoorn, Ewout J, Shasha-Lavsky, Hadas, Harambat, Jerome, Godron-Dubrasquet, Astrid, Buder, Kathrin, Allard, Lise, Patzer, Ludwig, Shumikhina, Marina, Hansen, Matthias, Printza, Nikoleta, Kucuk, Nuran, Beringer, Ortraud, Bhimma, Rajendra, Cerkauskiene, Rimante, Klinikos, Santaros, Neuhaus, Thomas J, Stavileci, Valbona, Ulinski, Tim, Dincel, Nida Temizkan, Mohebbi, Nilufar

Publikováno v: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association-European Renal Association, 34(6), 981. Oxford University Press
Nephrology, Dialysis, Transplantation, 34, 981-991
Nephrology, Dialysis, Transplantation, 34, 6, pp. 981-991
Lopez-Garcia, S C, Emma, F, Walsh, S B, Fila, M, Hooman, N, Zaniew, M, Bertholet-Thomas, A, Colussi, G, Burgmaier, K, Levtchenko, E, Sharma, J, Singhal, J, Soliman, N A, Ariceta, G, Basu, B, Murer, L, Tasic, V, Tsygin, A, Decramer, S, Gil-Peña, H, Koster-Kamphuis, L, La Scola, C, Gellermann, J, Konrad, M, Lilien, M, Francisco, T, Tramma, D, Trnka, P, Yüksel, S, Caruso, M R, Chromek, M, Ekinci, Z, Gambaro, G, Kari, J A, König, J, Taroni, F, Thumfart, J, Trepiccione, F, Winding, L, Wühl, E, Ağbaş, A, Belkevich, A, Vargas-Poussou, R, Blanchard, A, Conti, G, Boyer, O, Dursun, I, Pınarbaşı, A S, Melek, E, Miglinas, M, European dRTA Consortium & Bockenhauer, D 2019, ' Treatment and long-term outcome in primary distal renal tubular acidosis ', Nephrology, Dialysis, Transplantation, vol. 34, no. 6, pp. 981-991 . https://doi.org/10.1093/ndt/gfy409
Nephrology Dialysis Transplantation, 34(6), 981-991. Oxford University Press

PubMedID: 30773598 Background. Primary distal renal tubular acidosis (dRTA) is a rare disorder, and we aimed to gather data on treatment and long-Termoutcome. Methods. We contacted paediatric and adult nephrologists through European professional orga

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::489880cf91009310eb8694fed37d6b02
https://doi.org/10.1093/ndt/gfy409

A rapid screening of a recurrent CYP24A1 pathogenic variant opens the way to molecular testing for Idiopathic Infantile Hypercalcemia (IIH)

Autor: Ettore Capoluongo, Jacopo Gervasoni, Daniele Cappellani, Giovanni Luca Scaglione, Aniello Primiano, Elisa De Paolis, Giovanni Gambaro, Angelo Minucci, Pietro Manuel Ferraro, Claudio Marcocci, Maria De Bonis

Introduction Loss-of-function mutations in cytochrome P450 family 24 subfamily A member 1 (CYP24A1) gene are associated with Idiopathic Infantile Hypercalcemia (IIH) and adult kidney stone disease. The enzyme deficiency leads to an impaired vitamin D

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ddb17fdc0032daee6947733b32c6384a
http://hdl.handle.net/11562/998719

Renal tubular acidosis: developments in our understanding of the molecular basis

Autor: Chris Laing, Giovambattista Capasso, Ashley M. Toye, Robert J. Unwin

Publikováno v: The International Journal of Biochemistry & Cell Biology. 37:1151-1161

Renal tubular acidosis is a metabolic acidosis due to impaired acid excretion by the kidney. Hyperchloraemic acidosis with a normal anion gap and normal (or near normal) glomerular filtration rate, and in the absence of diarrhoea, defines this disord

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::394427317de248537f809d6e4ccc37b1
https://doi.org/10.1016/j.biocel.2005.01.002

[Mediastinal parathyroid adenoma. Preoperative localization with determination of parathyroid hormone in selective venous samples. Importance of the method]

Autor: Giuliani, L., Carmignani, G., Belgrano, Emanuele, Puppo, P.

Publikováno v: Minerva urologica. 29(2)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::eacf10a57bad65d5df1700f45493f1da
https://pubmed.ncbi.nlm.nih.gov/895699