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autosomal dominant proximal renal tubular acidosis - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal dominant proximal renal tubular acidosis

MONDO:0017829

Also known as:AD pRTAproximal renal tubular acidosis, autosomal dominant

Overview

Autosomal dominant proximal renal tubular acidosis (AD pRTA) is a form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for autosomal dominant proximal renal tubular acidosis.

13 publications have been identified in PubMed for autosomal dominant proximal renal tubular acidosis. Research spans Case Report / Case Series (45%), Review / Meta-Analysis (18%), and Epidemiology / Natural History (18%).

Research Type	Count	% of Total
Patient case studies	5	45%

Data assembled from 3 of 12 sources · Last updated Sep 21, 2026, 4:52 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:314889

GARD

Genetic and Rare Diseases Info Center

GARD:21394

Questions for Your Care Team

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autosomal dominant proximal renal tubular acidosis

Overview

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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