Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

distal renal tubular acidosis - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

distal renal tubular acidosis

MONDO:0015827

Also known as:Primary Distal Renal Tubular Acidosisclassic RTAdRTA

Find Clinical TrialsTrials

Overview

A kidney disorder of impaired net acid secretion by the distal tubule characterized by hyperchloremic metabolic acidosis. Primary distal renal tubular acidosis is often associated with hypokalemia whereas acquired form may be associated with hypokalemia, hyperkalemia or normokalemia.

Clinical Trials1 registered · 1 recruiting

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Nephrocalcinosis, Chronic metabolic acidosis, Hypokalemia, and Low bone density (reduced bone mineral density) and others; and common findings: Renal potassium wasting, Nephrolithiasis, Muscle weakness, and Failure to thrive and others. 38 total HPO annotations.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	7	Nephrocalcinosis, Renal potassium wasting, Nephrolithiasis

Diagnosis

Biomarker and diagnostic research for distal renal tubular acidosis has been reported in the published literature.

Prognosis

Phenotype severity distribution: 8 very common features, 9 common features.

Estimated prevalence: Unknown (Unknown prevalence).

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.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

182 publications have been identified in PubMed for distal renal tubular acidosis. Research spans Case Report / Case Series (55%), Review / Meta-Analysis (16%), and Basic Science / Preclinical (14%).

Research Type	Count	% of Total
Patient case studies	100	55%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:35 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:18

GARD

Genetic and Rare Diseases Info Center

GARD:4667

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Kisho

distal renal tubular acidosis

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

Renal cysts in WDR72-associated distal renal tubular acidosis: expanding the phenotypic spectrum.

Distal Renal Tubular Acidosis as a Renal Manifestation of Sjögren's Syndrome: A Case Report.

distal renal tubular acidosis

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

Renal cysts in WDR72-associated distal renal tubular acidosis: expanding the phenotypic spectrum.

Distal Renal Tubular Acidosis as a Renal Manifestation of Sjögren's Syndrome: A Case Report.