Abstract: TH-PO0387
The European dRTA Registry: Five-Year Analysis
Session Information
- Fluid, Electrolyte, and Acid-Base Disorders: Clinical - 1
November 06, 2025 | Location: Exhibit Hall, Convention Center
Abstract Time: 10:00 AM - 12:00 PM
Category: Fluid, Electrolytes, and Acid-Base Disorders
- 1102 Fluid, Electrolyte, and Acid-Base Disorders: Clinical
Authors
- Giaccari, Marta, Universita Cattolica del Sacro Cuore Facolta di Medicina e Chirurgia, Rome, Lazio, Italy
- Fila, Marc, Pediatric nephrology department- CHU Arnaud de Villeneuve – Renal rare disease reference center SORARE – Montpellier, Montpellier, France
- Atmis, Bahriye, Cukurova Universitesi, Adana, Turkey
- Bertholet-Thomas, Aurélia, Centre de Référence des Maladies Rénales Rares, Centre de Référence des Maladies Rares du Calcium et du Phosphore, Hôpital Femme Mère Enfant, Bron, France
- Bockenhauer, Detlef, Department of Paediatric Nephrology, UZ Leuven and Department of Cellular and Molecular Medicine, KUL,, Leuven, Belgium
- Emma, Francesco, Ospedale Pediatrico Bambino Gesu IRCCS, Rome, Lazio, Italy
Group or Team Name
- On behalf of the dRTA Registry Consortium.
Background
Distal renal tubular acidosis (dRTA) is characterized by metabolic acidosis, growth failure and chronic kidney disease (CKD. Previous retrospective data suggested improved outcome with adequate metabolic control, but confirmation from prospective data is lacking. Since 2019, the European dRTA registry has collected prospective data on patients with dRTA.
Methods
The registry is hosted as a subregistry of the European Rare Kidney Disease Network (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 linear growth.
Results
Of the 214 patients enrolled in the registry, 22% were >18 years at the last visit. A genetic cause was demonstrated in 69% of patients.
Low serum bicarbonate levels (<22 mmol/L) was observed in 42% of patients, independently from age. Multivariable analysis showed that height SDS was positively associated with serum bicarbonate levels (p=0.008). Further modelling indicated that height SDS increased progressively with serum bicarbonate levels until 22-24 mmol/L (Figure).The overall prevalence of CKD ≥stage 2 was 36%. Patients with SLC4A1 variants were at higher risk of CKD (p=0.013).
Conclusion
Our results support increasing the serum bicarbonate target for therapy to 24 mmol/L to optimise growth. Compared to the overall population, patients with dRTA are at higher risk of CKD since early childhood, in particular if they have underlying SLC4A1 variants.
Linear growth according to mean serum bicarbonate levels.