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GTR Home > Conditions/Phenotypes > Autosomal dominant distal renal tubular acidosis

Autosomal dominant distal renal tubular acidosis

Synonyms
RENAL TUBULAR ACIDOSIS, DISTAL, 1; RTA, classic type; RTA, distal type, autosomal dominant; RTA, gradient type; Renal Tubular Acidosis, Type I; Renal tubular acidosis 1
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Hereditary Distal Renal Tubular Acidosis
Individuals with hereditary distal renal tubular acidosis (dRTA) typically present in infancy with failure to thrive, although later presentations can occur, especially in individuals with autosomal dominant SLC4A1-dRTA. Initial clinical manifestations can also include emesis, polyuria, polydipsia, constipation, diarrhea, decreased appetite, and episodes of dehydration. Electrolyte manifestations include hyperchloremic non-anion gap metabolic acidosis and hypokalemia. Renal complications of dRTA include nephrocalcinosis, nephrolithiasis, medullary cysts, and impaired renal function. Additional manifestations include bone demineralization (rickets, osteomalacia), growth deficiency, sensorineural hearing loss (in ATP6V0A4-, ATP6V1B1-, and FOXI1-dRTA), and hereditary hemolytic anemia (in some individuals with SLC4A1-dRTA).
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
R Todd Alexander
Linda Law
Helena Gil-Peña
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Available tests

42 tests are in the database for this condition.

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Clinical tests (42 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AE1, BND3, CD233, CHC, DI, EMPB3, EPB3, FR, RTA1A, SAO, SPH4, SW, WD, WD1, WR, SLC4A1
    Summary: solute carrier family 4 member 1 (Diego blood group)

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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