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

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

Features include always present findings: Hyperamylasemia, Band keratopathy, Short stature, and Cataract and others. 16 total HPO annotations.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	3	Impaired renal tubular reabsorption of bicarbonate, Proximal renal tubular acidosis, Bicarbonate-wasting renal tubular acidosis
Growth and development	2	Short stature, Growth delay
Eyes	2	Cataract, Glaucoma
Brain and nerves	2	Cerebral calcification, Intellectual disability
Muscles	1	Bicarbonate-wasting renal tubular acidosis
Metabolism	1	Metabolic acidosis

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.

22 publications have been identified in PubMed for autosomal recessive proximal renal tubular acidosis. Research spans Case Report / Case Series (52%), Review / Meta-Analysis (19%), and Basic Science / Preclinical (14%).

Research Type	Count	% of Total
Patient case studies	11	52%
Research summaries	4	19%
Laboratory research	3	14%
Disease patterns and progression	3	14%

Recent Publications

Bot Rachisan AL (2026). [PMID: 41897147](https://pubmed.ncbi.nlm.nih.gov/41897147/). *Children (Basel)*. [Review / Meta-Analysis]
Charfi H (2025). [PMID: 40935900](https://pubmed.ncbi.nlm.nih.gov/40935900/). *European journal of pediatrics*. [Epidemiology / Natural History]
Essid M (2025). [PMID: 39993789](https://pubmed.ncbi.nlm.nih.gov/39993789/). *Clinical genetics*. [Basic Science / Preclinical]
Chang C (2025). [PMID: 41395315](https://pubmed.ncbi.nlm.nih.gov/41395315/). *Frontiers in pediatrics*. [Case Report / Case Series]
Alrasheed A (2025). [PMID: 41503293](https://pubmed.ncbi.nlm.nih.gov/41503293/). *Cureus*. [Epidemiology / Natural History]
Aguiar GRF (2025). [PMID: 39956877](https://pubmed.ncbi.nlm.nih.gov/39956877/). *International urology and nephrology*. [Case Report / Case Series]
Vo VH (2025). [PMID: 40880677](https://pubmed.ncbi.nlm.nih.gov/40880677/). *Case reports in gastroenterology*. [Case Report / Case Series]
Choudhary DS (2025). [PMID: 40421228](https://pubmed.ncbi.nlm.nih.gov/40421228/). *Medicine international*. [Case Report / Case Series]
AlFaris B (2025). [PMID: 39667299](https://pubmed.ncbi.nlm.nih.gov/39667299/). *Brain & development*. [Basic Science / Preclinical]
Han M (2025). [PMID: 40629618](https://pubmed.ncbi.nlm.nih.gov/40629618/). *Medicine*. [Epidemiology / Natural History]

Kisho

autosomal recessive proximal renal tubular acidosis

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

autosomal recessive proximal renal tubular acidosis

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team