التفاصيل البيبلوغرافية
| العنوان: |
Treatment and long-term outcome in primary distal renal tubular acidosis |
| المؤلفون: |
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., A�ba�, A., Belkevich, A., Vargas-Poussou, R., Blanchard, A., Conti, G., Boyer, O., Dursun, I., Pınarba�ı, A.S., Melek, E., Miglinas, M., Novo, R., Mallett, A., Milosevic, D., Szczepanska, M., Wente, S., Cheong, H.I., Sinha, R., Gucev, Z., Dufek, S., Iancu, D., dRTA Consortium, European, Kleta, R., Schaefer, F., Bockenhauer, D. |
| سنة النشر: |
2019 |
| المجموعة: |
eprints Iran University of Medical Sciences |
| مصطلحات موضوعية: |
WJ Urogenital System |
| 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. © The Author(s) 2019. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved. |
| نوع الوثيقة: |
article in journal/newspaper |
| اللغة: |
unknown |
| العلاقة: |
Lopez-Garcia, S.C. and Emma, F. and Walsh, S.B. and Fila, M. and Hooman, N. and Zaniew, M. and Bertholet-Thomas, A. and Colussi, G. and Burgmaier, K. and Levtchenko, E. and Sharma, J. and Singhal, J. and Soliman, N.A. and Ariceta, G. and Basu, B. and Murer, L. and Tasic, V. and Tsygin, A. and Decramer, S. and Gil-Peña, H. and Koster-Kamphuis, L. and La Scola, C. and Gellermann, J. and Konrad, M. and Lilien, M. and Francisco, T. and Tramma, D. and Trnka, P. and Yüksel, S. and Caruso, M.R. and Chromek, M. and Ekinci, Z. and Gambaro, G. and Kari, J.A. and König, J. and Taroni, F. and Thumfart, J. and Trepiccione, F. and Winding, L. and Wühl, E. and A�ba�, A. and Belkevich, A. and Vargas-Poussou, R. and Blanchard, A. and Conti, G. and Boyer, O. and Dursun, I. and Pınarba�ı, A.S. and Melek, E. and Miglinas, M. and Novo, R. and Mallett, A. and Milosevic, D. and Szczepanska, M. and Wente, S. and Cheong, H.I. and Sinha, R. and Gucev, Z. and Dufek, S. and Iancu, D. and dRTA Consortium, European and Kleta, R. and Schaefer, F. and Bockenhauer, D. (2019) Treatment and long-term outcome in primary distal renal tubular acidosis. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, 34 (6). pp. 981-991. |
| الإتاحة: |
http://eprints.iums.ac.ir/13477Test/ |
| رقم الانضمام: |
edsbas.1B584948 |
| قاعدة البيانات: |
BASE |
