Renal tubular acidosis with progressive nerve deafness
- Synonyms
- Distal Renal Tubular Acidosis with Progressive Sensorineural Deafness; RENAL TUBULAR ACIDOSIS, AUTOSOMAL RECESSIVE, WITH PROGRESSIVE NERVE DEAFNESS; RENAL TUBULAR ACIDOSIS, DISTAL, 2, WITH PROGRESSIVE SENSORINEURAL HEARING LOSS; RTA WITH PROGRESSIVE NERVE DEAFNESS
Summary
Excerpted from the GeneReview: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
- view full author information
Available tests
55 tests are in the database for this condition.
Clinical tests (55 available)
Biochemical Genetics Tests
Genes See tests for all associated and related genes
Also known as: ATP6B1, DRTA2, RTA1B, VATB, VMA2, VPP3, ATP6V1B1
Summary: ATPase H+ transporting V1 subunit B1
Clinical features
Help- Abnormality of metabolism/homeostasis
- Renal tubular acidosis
Renal tubular acidosis
- MedGen UID: 90
- Concept ID: C0001126
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Renal tubular acidosis
- Abnormality of the genitourinary system
- Nephrolithiasis
Nephrolithiasis
- MedGen UID: 98227
- Concept ID: C0392525
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Nephrolithiasis
- Ear malformation
- Sensorineural hearing loss disorder
Sensorineural hearing loss disorder
- MedGen UID: 9164
- Concept ID: C0018784
- Finding: Disease or Syndrome
Ear malformation
- Sensorineural hearing loss disorder
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