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Proximal renal tubular acidosis (pRTA) is a tubular kidney disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis.
Features include always present findings: Short stature, Hyperchloremic acidosis, and Proximal renal tubular acidosis. 7 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Bones and joints | 2 | Rickets, Osteomalacia |
Kidneys and urinary system |
Phenotype severity distribution: 3 always present features.
Estimated prevalence: Unknown (Unknown prevalence).
1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.
29 publications have been identified in PubMed for proximal renal tubular acidosis. Research spans Case Report / Case Series (59%), Basic Science / Preclinical (17%), and Review / Meta-Analysis (14%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 17 | 59% |
Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 5:34 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
2 |
Proximal renal tubular acidosis, Elevated creatinine (kidney function marker) (elevated circulating creatinine concentration) |
Growth and development | 1 | Short stature |
Lab test results | 1 | Elevated creatinine (kidney function marker) (elevated circulating creatinine concentration) |
Laboratory research |
5 |
17% |
Research summaries | 4 | 14% |
Disease patterns and progression | 2 | 7% |
New treatment approaches | 1 | 3% |
Mariam N (2026). [PMID: 41716915](https://pubmed.ncbi.nlm.nih.gov/41716915/). *Oxford medical case reports*. [Case Report / Case Series]
Giri S (2026). [PMID: 41413240](https://pubmed.ncbi.nlm.nih.gov/41413240/). *Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA*. [Epidemiology / Natural History]
Das S (2026). [PMID: 41918597](https://pubmed.ncbi.nlm.nih.gov/41918597/). *Indian J Endocrinol Metab*. [Review / Meta-Analysis]
Bisseling Q (2026). [PMID: 41841191](https://pubmed.ncbi.nlm.nih.gov/41841191/). *Ann Clin Transl Neurol*. [Basic Science / Preclinical]
Ahmad QT (2026). [PMID: 41835731](https://pubmed.ncbi.nlm.nih.gov/41835731/). *Cureus*. [Case Report / Case Series]
Dermawan A (2025). [PMID: 40923625](https://pubmed.ncbi.nlm.nih.gov/40923625/). *Internal medicine journal*. [Case Report / Case Series]
Gupta S (2025). [PMID: 41509769](https://pubmed.ncbi.nlm.nih.gov/41509769/). *Journal of orthopaedic case reports*. [Case Report / Case Series]
Hasturk B (2025). [PMID: 39869206](https://pubmed.ncbi.nlm.nih.gov/39869206/). *Pediatric nephrology (Berlin, Germany)*. [Case Report / Case Series]
Shankar M (2025). [PMID: 40955991](https://pubmed.ncbi.nlm.nih.gov/40955991/). *The Journal of the Association of Physicians of India*. [Review / Meta-Analysis]
Capaci V (2025). [PMID: 40332224](https://pubmed.ncbi.nlm.nih.gov/40332224/). *International journal of molecular sciences*. [Case Report / Case Series]