دورية أكاديمية
Treatment and long-term outcome in primary distal renal tubular acidosis
| العنوان: | Treatment and long-term outcome in primary distal renal tubular acidosis |
|---|---|
| المؤلفون: | 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 |
| بيانات النشر: | OXFORD UNIV PRESS |
| سنة النشر: | 2019 |
| المجموعة: | Cologne University: KUPS |
| مصطلحات موضوعية: | ddc:no |
| الوصف: | Background Primary distal renal tubular acidosis (dRTA) is a rare disorder, and we aimed to gather data on treatment and long-term outcome. Methods We contacted paediatric and adult nephrologists through European professional organizations. Responding clinicians entered demographic, biochemical, genetic and clinical data in an online form. Results Adequate data were collected on 340 patients (29 countries, female 52%). Mutation testing had been performed on 206 patients (61%); pathogenic mutations were identified in 170 patients (83%). The median (range) presentation age was 0.5 (0-54) years and age at last follow-up was 11.0 (0-70.0) years. Adult height was slightly below average with a mean (SD score) of -0.57 (1.16). There was an increased prevalence of chronic kidney disease (CKD) Stage 2 in children (35%) and adults (82%). Nephrocalcinosis was reported in 88%. Nephrolithiasis was more common with SLC4A1 mutations (42% versus 21%). Thirty-six percent had hearing loss, particularly in ATP6V1B1 (88%). The median (interquartile range) prescribed dose of alkali (mEq/kg/day) was 1.9 (1.2-3.3). Adequate metabolic control (normal plasma bicarbonate and normocalciuria) was achieved in 158 patients (51%), more commonly in countries with higher gross domestic product (67% versus 23%), and was associated with higher height and estimated glomerular filtration rate. Conclusion Long-term follow-up from this large dRTA cohort shows an overall favourable outcome with normal adult height for most and no patient with CKD Stage 5. However, 82% of adult patients have CKD Stages 2-4. Importance of adequate metabolic control was highlighted by better growth and renal function but was achieved in only half of patients. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | Lopez-Garcia, Sergio Camilo, Emma, Francesco, Walsh, Stephen B., Fila, Marc, Hooman, Nakysa, Zaniew, Marcin, Bertholet-Thomas, Aurelia, Colussi, Giacomo orcid:0000-0001-6133-1899 , Burgmaier, Kathrin, Levtchenko, Elena, Sharma, Jyoti, Singhal, Jyoti, Soliman, Neveen A., Ariceta, Gema, Basu, Biswanath, Murer, Luisa, Tasic, Velibor, Tsygin, Alexey, Decramer, Stephane orcid:0000-0001-6984-762X , Gil-Pena, Helena, Koster-Kamphuis, Linda orcid:0000-0002-9971-995X , La Scola, Claudio orcid:0000-0002-2644-7447 , Gellermann, Jutta, Konrad, Martin, Lilien, Marc, Francisco, Telma, Tramma, Despoina, Trnka, Peter orcid:0000-0002-5584-2622 , Yuksel, Selcuk, Caruso, Maria Rosa, Chromek, Milan, Ekinci, Zelal, Gambaro, Giovanni, Kari, Jameela A., Koenig, Jens, Taroni, Francesca, Thumfart, Julia orcid:0000-0003-1162-5295 , Trepiccione, Francesco, Winding, Louise, Wuehl, Elke, Agbas, Ayse orcid:0000-0002-3658-8622 , Belkevich, Anna, Vargas-Poussou, Rosa orcid:0000-0002-4169-0680 , Blanchard, Anne, Conti, Giovanni, Boyer, Olivia orcid:0000-0002-3957-1359 , Dursun, Ismail, Pinarbasi, Ayse Seda, Melek, Engin, Miglinas, Marius, Novo, Robert, Mallett, Andrew, Milosevic, Danko, Szczepanska, Maria orcid:0000-0002-6772-1983 , Wente, Sarah, Cheong, Hae Il, Sinha, Rajiv, Gucev, Zoran, Dufek, Stephanie orcid:0000-0002-6323-6673 , Iancu, Daniela, Kleta, Robert, Schaefer, Franz, Bockenhauer, Detlef orcid:0000-0001-5878-941X , 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 orcid:0000-0003-3092-7790 , Cerkauskiene, Rimante, Klinikos, Santaros, Neuhaus, Thomas J., Stavileci, Valbona, Ulinski, Tim, Dincel, Nida Temizkan and Mohebbi, Nilufar (2019). Treatment and long-term outcome in primary distal renal tubular acidosis. Nephrol. Dial. Transplant., 34 (6). S. 981 - 992. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2385 |
| الإتاحة: | https://kups.ub.uni-koeln.de/14655Test/ |
| رقم الانضمام: | edsbas.A4A0AAFA |
| قاعدة البيانات: | BASE |
| الوصف غير متاح. |