The European distal renal tubular acidosis registry: a 5-year analysis.
Обработка статьи · этапы, ошибки и управление
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Giaccari Marta, Veligratli Faidra, Hayes Wesley, Topaloglu Rezan, Ozdemir Gulsah, Ruggiero Barbara, Boyer Olivia, Knebelmann Bertrand, Nedelec Yann, Fila Marc, Hemery Floriane, Atmis Bahriye, Bayazit Aysun Karabay, Bertholet-Thomas Aurélia, Lemoine Sandrine, Papizh Svetlana, Prikhodina Larisa, Aksu Bağdagül, La Scola Claudio, Eid Loai, Güngör Tülin, Canpolat Nur, Trepiccione Francesco, Decramer Stéphane, Camilla Roberta, Yüksel Selçuk, Girisgen Ilknur, Schaefer Franz, Haeberle Stefanie, Levtchenko Elena, Haffner Dieter, Ariceta Gema, Claes Kathleen, Koster-Kamphuis Linda, Petzold Friederike, Harambat Jérôme, Godron-Dubrasquet Astrid, Oh Jun, Burgmaier Kathrin, Cerkauskiene Rimante, Longo Germana, D'Ambrosio Viola, Konrad Martin, Lungu Adrian, Maxted Drew, Liebau Max C, Bockenhauer Detlef, Emma Francesco
Аннотация
METHODS: The registry is hosted as a subregistry of the European Rare Kidney Disease Network (https://www.erknet.org/). In addition to the standard items of growth and plasma creatinine, additional data on plasma and urine biochemistries, genetics, treatment and clinical manifestations were collected from February 2019 through May 2024. Logistic regression analysis was used to identify predictors of CKD and impaired growth.
RESULTS: Of the 214 patients enrolled in the registry, only 22% were aged >18 years at the last visit. A genetic diagnosis was documented in 69% of patients. On average, low blood bicarbonate levels (<22 mmol/L) and hypercalciuria were observed in 42% and 25% of patients, respectively, independently of age. Multivariable analysis showed that height standard deviation score (SDS) was positively associated with serum bicarbonate levels (P = .008) and with early diagnosis (P = .005). Further modelling based on odds ratios indicated substantial odds of impaired growth for low serum bicarbonate levels. Patients aged >30 years had significantly lower estimated glomerular filtration rate (P < .001) and the overall prevalence of CKD stage ≥2 was 36%. Patients with SLC4A1 variants were at higher risk of CKD stage >1 (P = .013).
CONCLUSION: Our results in this primarily paediatric cohort highlight the importance of metabolic control and support increasing the blood bicarbonate level for therapy to 24 mmol/L to improve growth. Compared with the overall population, patients with dRTA are at higher risk of CKD from childhood, particularly if they have underlying SLC4A1 variants.