proximal renal tubular acidosis
ORPHA: 47159
Overview
medical condition
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with proximal renal tubular acidosis, sourced from HPO and Orphanet clinical annotations.
Bicarbonate-wasting renal tubular acidosisHyperchloremic metabolic acidosisFailure to thriveGrowth delayVomitingHypokalemiaBicarbonaturiaAbnormality of the eyeGlaucomaCataractBand keratopathyNephrolithiasisAbnormality of the skeletal systemIntellectual disabilityMild postnatal growth retardationDehydrationPolydipsiaDiarrheaMalabsorptionHypercalciuriaGlycosuriaHyperphosphaturiaLow-molecular-weight proteinuriaHyperuricosuriaAminoaciduriaReduced bone mineral densityEnamel hypomineralizationHypovolemiaGlobal proximal tubulopathyHypernatriuriaNephrocalcinosisColobomaSubvalvular aortic stenosisShort stature
Classification & Codes
Orphanet Code
ORPHA:47159proximal renal tubular acidosis
| Orphanet | ORPHA:47159 |
| Treatments | 0 drug(s) |
| Symptoms on record | 34 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO