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Autosomal recessive distal renal tubular acidosis

MedGen UID:
351142
•Concept ID:
C1864498
•
Disease or Syndrome
Synonyms: Renal tubular acidosis, autosomal recessive with preserved hearing; RTA, distal, autosomal recessive
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0018440
Orphanet: ORPHA402041

Disease characteristics

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). [from GeneReviews]
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, et. al.   view full author information

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAutosomal recessive distal renal tubular acidosis

Recent clinical studies

Etiology

Mutational analyses of the ATP6V1B1 and ATP6V0A4 genes in patients with primary distal renal tubular acidosis.
Miura K, Sekine T, Takahashi K, Takita J, Harita Y, Ohki K, Park MJ, Hayashi Y, Tajima A, Ishihara M, Hisano M, Murai M, Igarashi T
Nephrol Dial Transplant 2013 Aug;28(8):2123-30. Epub 2013 May 31 doi: 10.1093/ndt/gft216. PMID: 23729491
Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene.
Vargas-Poussou R, Houillier P, Le Pottier N, Strompf L, Loirat C, Baudouin V, Macher MA, Déchaux M, Ulinski T, Nobili F, Eckart P, Novo R, Cailliez M, Salomon R, Nivet H, Cochat P, Tack I, Fargeot A, Bouissou F, Kesler GR, Lorotte S, Godefroid N, Layet V, Morin G, Jeunemaître X, Blanchard A
J Am Soc Nephrol 2006 May;17(5):1437-43. Epub 2006 Apr 12 doi: 10.1681/ASN.2005121305. PMID: 16611712
Anion exchanger 1 mutations associated with distal renal tubular acidosis in the Thai population.
Yenchitsomanus PT, Sawasdee N, Paemanee A, Keskanokwong T, Vasuvattakul S, Bejrachandra S, Kunachiwa W, Fucharoen S, Jittphakdee P, Yindee W, Promwong C
J Hum Genet 2003;48(9):451-456. Epub 2003 Aug 21 doi: 10.1007/s10038-003-0059-6. PMID: 12938018

Diagnosis

A rare case of autosomal recessive ATP6V0A4 variant of distal renal tubular acidosis in a young female with recurrent nephrolithiasis.
Anupama PH, Abraham G, Shanmugasundaram L, Anupama SH
Saudi J Kidney Dis Transpl 2019 Nov-Dec;30(6):1442-1446. doi: 10.4103/1319-2442.275490. PMID: 31929293
Molecular Diagnosis of Solute Carrier Family 4 Member 1 (SLC4A1) Mutation-Related Autosomal Recessive Distal Renal Tubular Acidosis.
Deejai N, Wisanuyotin S, Nettuwakul C, Khositseth S, Sawasdee N, Saetai K, Yenchitsomanus PT, Rungroj N
Lab Med 2019 Jan 1;50(1):78-86. doi: 10.1093/labmed/lmy051. PMID: 30124986
Distal renal tubular acidosis and its relationship with hearing loss in children: preliminary report.
Sharifian M, Esfandiar N, Mazaheri S, Kariminejad A, Mohkam M, Dalirani R, Esmaili R, Ahmadi M, Hassas-Yeganeh M
Iran J Kidney Dis 2010 Jul;4(3):202-6. PMID: 20622307
Trafficking defects of a novel autosomal recessive distal renal tubular acidosis mutant (S773P) of the human kidney anion exchanger (kAE1).
Kittanakom S, Cordat E, Akkarapatumwong V, Yenchitsomanus PT, Reithmeier RA
J Biol Chem 2004 Sep 24;279(39):40960-71. Epub 2004 Jul 13 doi: 10.1074/jbc.M405356200. PMID: 15252044
Autosomal recessive distal renal tubular acidosis associated with Southeast Asian ovalocytosis.
Vasuvattakul S, Yenchitsomanus PT, Vachuanichsanong P, Thuwajit P, Kaitwatcharachai C, Laosombat V, Malasit P, Wilairat P, Nimmannit S
Kidney Int 1999 Nov;56(5):1674-82. doi: 10.1046/j.1523-1755.1999.00756.x. PMID: 10571775

Therapy

A novel homozygous deletion in ATP6V0A4 causes distal renal tubular acidosis: A case report.
Yuan J, Huang K, Wu W, Zhang L, Dong G
Medicine (Baltimore) 2019 Jul;98(30):e16504. doi: 10.1097/MD.0000000000016504. PMID: 31348261Free PMC Article
The Vacuolar H+-ATPase B1 Subunit Polymorphism p.E161K Associates with Impaired Urinary Acidification in Recurrent Stone Formers.
Dhayat NA, Schaller A, Albano G, Poindexter J, Griffith C, Pasch A, Gallati S, Vogt B, Moe OW, Fuster DG
J Am Soc Nephrol 2016 May;27(5):1544-54. Epub 2015 Oct 9 doi: 10.1681/ASN.2015040367. PMID: 26453614Free PMC Article

Prognosis

Mutational analyses of the ATP6V1B1 and ATP6V0A4 genes in patients with primary distal renal tubular acidosis.
Miura K, Sekine T, Takahashi K, Takita J, Harita Y, Ohki K, Park MJ, Hayashi Y, Tajima A, Ishihara M, Hisano M, Murai M, Igarashi T
Nephrol Dial Transplant 2013 Aug;28(8):2123-30. Epub 2013 May 31 doi: 10.1093/ndt/gft216. PMID: 23729491
Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene.
Vargas-Poussou R, Houillier P, Le Pottier N, Strompf L, Loirat C, Baudouin V, Macher MA, Déchaux M, Ulinski T, Nobili F, Eckart P, Novo R, Cailliez M, Salomon R, Nivet H, Cochat P, Tack I, Fargeot A, Bouissou F, Kesler GR, Lorotte S, Godefroid N, Layet V, Morin G, Jeunemaître X, Blanchard A
J Am Soc Nephrol 2006 May;17(5):1437-43. Epub 2006 Apr 12 doi: 10.1681/ASN.2005121305. PMID: 16611712

Clinical prediction guides

Anion exchanger 1 mutations associated with distal renal tubular acidosis in the Thai population.
Yenchitsomanus PT, Sawasdee N, Paemanee A, Keskanokwong T, Vasuvattakul S, Bejrachandra S, Kunachiwa W, Fucharoen S, Jittphakdee P, Yindee W, Promwong C
J Hum Genet 2003;48(9):451-456. Epub 2003 Aug 21 doi: 10.1007/s10038-003-0059-6. PMID: 12938018
Localization of a gene for autosomal recessive distal renal tubular acidosis with normal hearing (rdRTA2) to 7q33-34.
Karet FE, Finberg KE, Nayir A, Bakkaloglu A, Ozen S, Hulton SA, Sanjad SA, Al-Sabban EA, Medina JF, Lifton RP
Am J Hum Genet 1999 Dec;65(6):1656-65. doi: 10.1086/302679. PMID: 10577919Free PMC Article
Autosomal recessive distal renal tubular acidosis associated with Southeast Asian ovalocytosis.
Vasuvattakul S, Yenchitsomanus PT, Vachuanichsanong P, Thuwajit P, Kaitwatcharachai C, Laosombat V, Malasit P, Wilairat P, Nimmannit S
Kidney Int 1999 Nov;56(5):1674-82. doi: 10.1046/j.1523-1755.1999.00756.x. PMID: 10571775

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