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 |
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| 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.N., Sharma, J., Singhal, J., Soliman, N.A., Ariceta, G., Basu, B., Murer, L., Tasic, V., Tsygin, A., Decramer, S., Gil-Pena, H., Koster-Kamphuis, L., La Scola, C., Gellermann, J., Konrad, M., Lilien, M., Francisco, T., Tramma, D., Trnka, P., Yuksel, S., Caruso, M.R., Chromek, M., Ekinci, Z., Gambaro, G., Kari, J.A., Konig, J., Taroni, F., Thumfart, J., Trepiccione, F., Winding, L., Wuhl, E., Agbas, A., Belkevich, A., Vargas-Poussou, R., Blanchard, A., Conti, G., Boyer, O., Dursun, I., Pinarbasi, 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., Kleta, R., Schaefer, F., Bockenhauer, D. |
| المصدر: | Nephrology, Dialysis, Transplantation, 34, 6, pp. 981-991 |
| سنة النشر: | 2019 |
| المجموعة: | Radboud University: DSpace |
| مصطلحات موضوعية: | Radboudumc 11: Renal disorders RIMLS: Radboud Institute for Molecular Life Sciences |
| الوصف: | Contains fulltext : 204259.pdf (Publisher’s version ) (Closed access) ; 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: | unknown |
| العلاقة: | http://hdl.handle.net/2066/204259Test |
| DOI: | 10.1093/ndt/gfy409 |
| الإتاحة: | https://doi.org/10.1093/ndt/gfy409Test http://hdl.handle.net/2066/204259Test |
| رقم الانضمام: | edsbas.208E0C1A |
| قاعدة البيانات: | BASE |
| DOI: | 10.1093/ndt/gfy409 |
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