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Renal Tubular Acidosis Associated With Deafness

MedGen UID:
885579
Concept ID:
C4054066
Disease or Syndrome

Definition

Renal tubular acidosis associated with sensorineural hearing loss, and which is typically associated with recessive mutations. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRenal Tubular Acidosis Associated With Deafness

Professional guidelines

PubMed

Lopez-Garcia SC, Emma F, Walsh SB, Fila M, Hooman N, Zaniew M, Bertholet-Thomas A, Colussi G, Burgmaier K, Levtchenko E, Sharma J, Singhal J, Soliman NA, Ariceta G, Basu B, Murer L, Tasic V, Tsygin A, Decramer S, Gil-Peña H, Koster-Kamphuis L, La Scola C, Gellermann J, Konrad M, Lilien M, Francisco T, Tramma D, Trnka P, Yüksel S, Caruso MR, Chromek M, Ekinci Z, Gambaro G, Kari JA, König J, Taroni F, Thumfart J, Trepiccione F, Winding L, Wühl E, Ağbaş A, Belkevich A, Vargas-Poussou R, Blanchard A, Conti G, Boyer O, Dursun I, Pınarbaşı AS, Melek E, Miglinas M, Novo R, Mallett A, Milosevic D, Szczepanska M, Wente S, Cheong HI, Sinha R, Gucev Z, Dufek S, Iancu D; European dRTA Consortium, Kleta R, Schaefer F, Bockenhauer D
Nephrol Dial Transplant 2019 Jun 1;34(6):981-991. doi: 10.1093/ndt/gfy409. PMID: 30773598

Recent clinical studies

Etiology

Gómez-Conde S, García-Castaño A, Aguirre M, Herrero M, Gondra L, Castaño L, Madariaga L
Nefrologia (Engl Ed) 2021 Jul-Aug;41(4):383-390. Epub 2021 Oct 7 doi: 10.1016/j.nefroe.2021.09.004. PMID: 36165107
Howles SA, Thakker RV
Nat Rev Urol 2020 Jul;17(7):407-421. Epub 2020 Jun 12 doi: 10.1038/s41585-020-0332-x. PMID: 32533118
Lopez-Garcia SC, Emma F, Walsh SB, Fila M, Hooman N, Zaniew M, Bertholet-Thomas A, Colussi G, Burgmaier K, Levtchenko E, Sharma J, Singhal J, Soliman NA, Ariceta G, Basu B, Murer L, Tasic V, Tsygin A, Decramer S, Gil-Peña H, Koster-Kamphuis L, La Scola C, Gellermann J, Konrad M, Lilien M, Francisco T, Tramma D, Trnka P, Yüksel S, Caruso MR, Chromek M, Ekinci Z, Gambaro G, Kari JA, König J, Taroni F, Thumfart J, Trepiccione F, Winding L, Wühl E, Ağbaş A, Belkevich A, Vargas-Poussou R, Blanchard A, Conti G, Boyer O, Dursun I, Pınarbaşı AS, Melek E, Miglinas M, Novo R, Mallett A, Milosevic D, Szczepanska M, Wente S, Cheong HI, Sinha R, Gucev Z, Dufek S, Iancu D; European dRTA Consortium, Kleta R, Schaefer F, Bockenhauer D
Nephrol Dial Transplant 2019 Jun 1;34(6):981-991. doi: 10.1093/ndt/gfy409. PMID: 30773598
Alonso-Varela M, Gil-Peña H, Coto E, Gómez J, Rodríguez J, Rodríguez-Rubio E, Santos F; RenalTube Group
Pediatr Nephrol 2018 Sep;33(9):1523-1529. Epub 2018 May 3 doi: 10.1007/s00467-018-3965-8. PMID: 29725771
Batlle D, Ghanekar H, Jain S, Mitra A
Annu Rev Med 2001;52:471-84. doi: 10.1146/annurev.med.52.1.471. PMID: 11160790

Diagnosis

Gómez-Conde S, García-Castaño A, Aguirre M, Herrero M, Gondra L, Castaño L, Madariaga L
Nefrologia (Engl Ed) 2021 Jul-Aug;41(4):383-390. Epub 2021 Oct 7 doi: 10.1016/j.nefroe.2021.09.004. PMID: 36165107
Guo W, Song Q, Zhang R, Xin Q, Liu Z, Lang Y, Zhao X, Shao L
Clin Genet 2021 Oct;100(4):440-446. Epub 2021 Jun 28 doi: 10.1111/cge.14011. PMID: 34159584
Alonso-Varela M, Gil-Peña H, Coto E, Gómez J, Rodríguez J, Rodríguez-Rubio E, Santos F; RenalTube Group
Pediatr Nephrol 2018 Sep;33(9):1523-1529. Epub 2018 May 3 doi: 10.1007/s00467-018-3965-8. PMID: 29725771
Batlle D, Haque SK
Nephrol Dial Transplant 2012 Oct;27(10):3691-704. doi: 10.1093/ndt/gfs442. PMID: 23114896
González-García JA, Ibáñez A, Ramírez-Camacho R, Rodríguez A, García-Berrocal JR, Trinidad A
Eur Arch Otorhinolaryngol 2006 Nov;263(11):971-6. Epub 2006 Jul 8 doi: 10.1007/s00405-006-0095-x. PMID: 16830115

Therapy

Gómez-Conde S, García-Castaño A, Aguirre M, Herrero M, Gondra L, Castaño L, Madariaga L
Nefrologia (Engl Ed) 2021 Jul-Aug;41(4):383-390. Epub 2021 Oct 7 doi: 10.1016/j.nefroe.2021.09.004. PMID: 36165107
Nagara M, Voskarides K, Nouira S, Ben Halim N, Kefi R, Aloulou H, Romdhane L, Ben Abdallah R, Ben Rhouma F, Aissa K, Boughamoura L, Kammoun T, Azzouz H, Abroug S, Ben Turkia H, Ayadi A, Mrad R, Chabchoub I, Hachicha M, Chemli J, Deltas C, Abdelhak S
Genet Test Mol Biomarkers 2014 Nov;18(11):741-8. Epub 2014 Oct 6 doi: 10.1089/gtmb.2014.0175. PMID: 25285676Free PMC Article
Mythili A, Subrahmanyam KA, Kumar KD
J Assoc Physicians India 2007 Apr;55:303-5. PMID: 17694794
Leumann EP, Steinmann B
Pediatr Res 1975 Oct;9(10):767-73. doi: 10.1203/00006450-197510000-00004. PMID: 241961

Prognosis

Dahmani M, Talbi S, Ammar-Khodja F, Ouhab S, Boudjenah F, Djebbar M, Bonnet C, Petit C
Int J Pediatr Otorhinolaryngol 2020 Feb;129:109772. Epub 2019 Nov 9 doi: 10.1016/j.ijporl.2019.109772. PMID: 31733597
Alonso-Varela M, Gil-Peña H, Coto E, Gómez J, Rodríguez J, Rodríguez-Rubio E, Santos F; RenalTube Group
Pediatr Nephrol 2018 Sep;33(9):1523-1529. Epub 2018 May 3 doi: 10.1007/s00467-018-3965-8. PMID: 29725771
Arhan E, Yusufoğlu AM, Sayli TR
Eur J Pediatr 2009 Aug;168(8):995-8. Epub 2008 Oct 30 doi: 10.1007/s00431-008-0860-5. PMID: 18972129
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
Naviaux RK
Eur J Pediatr 2000 Dec;159 Suppl 3:S219-26. doi: 10.1007/pl00014407. PMID: 11216904

Clinical prediction guides

Dahmani M, Talbi S, Ammar-Khodja F, Ouhab S, Boudjenah F, Djebbar M, Bonnet C, Petit C
Int J Pediatr Otorhinolaryngol 2020 Feb;129:109772. Epub 2019 Nov 9 doi: 10.1016/j.ijporl.2019.109772. PMID: 31733597
Lopez-Garcia SC, Emma F, Walsh SB, Fila M, Hooman N, Zaniew M, Bertholet-Thomas A, Colussi G, Burgmaier K, Levtchenko E, Sharma J, Singhal J, Soliman NA, Ariceta G, Basu B, Murer L, Tasic V, Tsygin A, Decramer S, Gil-Peña H, Koster-Kamphuis L, La Scola C, Gellermann J, Konrad M, Lilien M, Francisco T, Tramma D, Trnka P, Yüksel S, Caruso MR, Chromek M, Ekinci Z, Gambaro G, Kari JA, König J, Taroni F, Thumfart J, Trepiccione F, Winding L, Wühl E, Ağbaş A, Belkevich A, Vargas-Poussou R, Blanchard A, Conti G, Boyer O, Dursun I, Pınarbaşı AS, Melek E, Miglinas M, Novo R, Mallett A, Milosevic D, Szczepanska M, Wente S, Cheong HI, Sinha R, Gucev Z, Dufek S, Iancu D; European dRTA Consortium, Kleta R, Schaefer F, Bockenhauer D
Nephrol Dial Transplant 2019 Jun 1;34(6):981-991. doi: 10.1093/ndt/gfy409. PMID: 30773598
Alonso-Varela M, Gil-Peña H, Coto E, Gómez J, Rodríguez J, Rodríguez-Rubio E, Santos F; RenalTube Group
Pediatr Nephrol 2018 Sep;33(9):1523-1529. Epub 2018 May 3 doi: 10.1007/s00467-018-3965-8. PMID: 29725771
Kumar PS, Venkatesh K, Sowjenya G, Srikanth L, Sunitha MM, Prasad UV, Swarupa V, Yeswanth S, Naveen PS, Sridhar A, Kumar VS, Sarma PV
J Biomol Struct Dyn 2015;33(10):2094-103. Epub 2015 Jan 23 doi: 10.1080/07391102.2014.999704. PMID: 25517796

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