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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).
 
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]
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

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
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
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

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
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
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
Saito T, Hayashi D, Shibata S, Jogamoto M, Kamoda T
Eur J Pediatr 2010 Oct;169(10):1271-3. Epub 2010 Mar 11 doi: 10.1007/s00431-010-1184-9. PMID: 20221774
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

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
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

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
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

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
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
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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