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

Rare Disease

autosomal recessive distal renal tubular acidosis

MONDO:0018440

Also known as:AR dRTAautosomal recessive distal RTAautosomal recessive distal renal tubular acidosis (disease)

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Overview

The autosomal recessive form of distal renal tubular acidosis (dRTA) characterized by hypokalemic hyperchloremic metabolic acidosis. Deafness often occurs either early or later on in life but may be absent or never be diagnosed.

OnsetCHILDHOOD

Clinical Trials1 registered · 1 recruiting

ResearchLimited published research (4 articles)

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.

No HPO annotations are available for this condition.

Age of onset: childhood.

GeneReviews

Clinical Guidance

Individuals with hereditary distal renal tubular acidosis (dRTA) typically present in infancy with poor weight gain and growth deficiency, although later presentations can occur, especially in individuals with autosomal dominant SLC4A1-related dRTA. Initial clinical manifestations may also include emesis, polyuria, polydipsia, constipation, diarrhea, decreased appetite, episodes of dehydration, and refractory rickets . Electrolyte manifestations include hypokalemia and hyperchloremic non-anion gap metabolic acidosis with inappropriately elevated urine pH (which may lead to secondary tachypnea if severe ). Some individuals may present with evidence of proximal tubular dysfunction (e.g.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

A clinical diagnosis for hereditary distal renal tubular acidosis (dRTA) can be established in an individual with early-onset dRTA if secondary causes of dRTA (e.g., autoimmune diseases or medications) can be excluded.

Suggestive Findings

Hereditary dRTA should be suspected in probands with the following clinical, laboratory, and imaging findings and family history.

Clinical findings

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for autosomal recessive distal renal tubular acidosis. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

The European Rare Kidney Disease Reference Network and the Inherited Kidney Diseases Working Group of the European Society for Paediatric Nephrology published clinical practice guidelines for the management of individuals with distal renal tubular acidosis (dRTA) . This chapter summarizes most of these recommendations, based on expert consensus opinion, as well as the authors' personal experience managing individuals with hereditary dRTA.

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended.

Table 7.

Hereditary Distal Renal Tubular Acidosis: Recommended Surveillance

System/Concern | Evaluation | Comment

Renal

| Venous blood gas | • In rapidly growing persons (infants young children): at least every 3-4 mos once blood pH is normalized w/o evidence of respiratory compensation

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.

4 publications have been identified in PubMed for autosomal recessive distal renal tubular acidosis. Research spans Basic Science / Preclinical (50%), Review / Meta-Analysis (25%), and Case Report / Case Series (25%).

Recent Publications

Jiang Y (2025). [PMID: 40775604](https://pubmed.ncbi.nlm.nih.gov/40775604/). *Renal failure*. [Basic Science / Preclinical]
Daenen M (2025). [PMID: 39837581](https://pubmed.ncbi.nlm.nih.gov/39837581/). *Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association*. [Basic Science / Preclinical]
Huseynli B (2025). [PMID: 39915375](https://pubmed.ncbi.nlm.nih.gov/39915375/). *Journal of nephrology*. [Case Report / Case Series]
Peng S (2024). [PMID: 39528293](https://pubmed.ncbi.nlm.nih.gov/39528293/). *Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 6:53 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:402041

GARD

Genetic and Rare Diseases Info Center

GARD:4666

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?

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Kisho

autosomal recessive distal renal tubular acidosis

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Renal

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Renal

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Growth

Skeletal

autosomal recessive distal renal tubular acidosis

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Renal

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Renal

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Growth

Skeletal