U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Distal Renal Tubular Acidosis, Recessive

MedGen UID:
893653
Concept ID:
CN239177
Disease or Syndrome

Professional guidelines

PubMed

Du T, Xia Y, Sun C, Gong Z, Liang L, Gong Z, Wang R, Lu D, Zhang K, Yang Y, Sun Y, Sun M, Sun Y, Xiao B, Qiu W
Orphanet J Rare Dis 2024 Feb 16;19(1):75. doi: 10.1186/s13023-024-03070-8. PMID: 38365697Free PMC Article
Hammi Y, Charfi H, Ferjani M, Sayari T, Mrad R, Gargah T
Tunis Med 2023 Aug-Sep;101(8-9):704-708. PMID: 38445406
Park E, Cho MH, Hyun HS, Shin JI, Lee JH, Park YS, Choi HJ, Kang HG, Cheong HI
Kidney Blood Press Res 2018;43(2):513-521. Epub 2018 Mar 29 doi: 10.1159/000488698. PMID: 29627839

Recent clinical studies

Etiology

Hammi Y, Charfi H, Ferjani M, Sayari T, Mrad R, Gargah T
Tunis Med 2023 Aug-Sep;101(8-9):704-708. PMID: 38445406
Wagner CA, Unwin R, Lopez-Garcia SC, Kleta R, Bockenhauer D, Walsh S
Nat Rev Nephrol 2023 Jun;19(6):384-400. Epub 2023 Apr 4 doi: 10.1038/s41581-023-00699-9. PMID: 37016093
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
Halbritter J, Baum M, Hynes AM, Rice SJ, Thwaites DT, Gucev ZS, Fisher B, Spaneas L, Porath JD, Braun DA, Wassner AJ, Nelson CP, Tasic V, Sayer JA, Hildebrandt F
J Am Soc Nephrol 2015 Mar;26(3):543-51. Epub 2014 Oct 8 doi: 10.1681/ASN.2014040388. PMID: 25296721Free PMC Article
Stark Z, Savarirayan R
Orphanet J Rare Dis 2009 Feb 20;4:5. doi: 10.1186/1750-1172-4-5. PMID: 19232111Free PMC Article

Diagnosis

Topaloglu R
Pediatr Nephrol 2024 Aug;39(8):2283-2292. Epub 2023 Dec 21 doi: 10.1007/s00467-023-06225-0. PMID: 38127152
Whyte MP
Bone 2023 Apr;169:116684. Epub 2023 Jan 27 doi: 10.1016/j.bone.2023.116684. PMID: 36709914
Zhang L, Xu B, Niu Y, Wang Y, Tang H
J Int Med Res 2021 Mar;49(3):3000605211000533. doi: 10.1177/03000605211000533. PMID: 33726529Free PMC Article
Halbritter J, Baum M, Hynes AM, Rice SJ, Thwaites DT, Gucev ZS, Fisher B, Spaneas L, Porath JD, Braun DA, Wassner AJ, Nelson CP, Tasic V, Sayer JA, Hildebrandt F
J Am Soc Nephrol 2015 Mar;26(3):543-51. Epub 2014 Oct 8 doi: 10.1681/ASN.2014040388. PMID: 25296721Free PMC Article
Stark Z, Savarirayan R
Orphanet J Rare Dis 2009 Feb 20;4:5. doi: 10.1186/1750-1172-4-5. PMID: 19232111Free PMC Article

Therapy

Topaloglu R
Pediatr Nephrol 2024 Aug;39(8):2283-2292. Epub 2023 Dec 21 doi: 10.1007/s00467-023-06225-0. PMID: 38127152
Wagner CA, Unwin R, Lopez-Garcia SC, Kleta R, Bockenhauer D, Walsh S
Nat Rev Nephrol 2023 Jun;19(6):384-400. Epub 2023 Apr 4 doi: 10.1038/s41581-023-00699-9. PMID: 37016093
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
Gahl WA
Eur J Pediatr 2003 Dec;162 Suppl 1:S38-41. Epub 2003 Nov 11 doi: 10.1007/s00431-003-1349-x. PMID: 14610675

Prognosis

Park E, Cho MH, Hyun HS, Shin JI, Lee JH, Park YS, Choi HJ, Kang HG, Cheong HI
Kidney Blood Press Res 2018;43(2):513-521. Epub 2018 Mar 29 doi: 10.1159/000488698. PMID: 29627839
Enerbäck S, Nilsson D, Edwards N, Heglind M, Alkanderi S, Ashton E, Deeb A, Kokash FEB, Bakhsh ARA, Van't Hoff W, Walsh SB, D'Arco F, Daryadel A, Bourgeois S, Wagner CA, Kleta R, Bockenhauer D, Sayer JA
J Am Soc Nephrol 2018 Mar;29(3):1041-1048. Epub 2017 Dec 14 doi: 10.1681/ASN.2017080840. PMID: 29242249Free PMC Article
Mohebbi N, Wagner CA
J Nephrol 2018 Aug;31(4):511-522. Epub 2017 Oct 9 doi: 10.1007/s40620-017-0447-1. PMID: 28994037
Meola M, Samoni S, Petrucci I
Contrib Nephrol 2016;188:120-30. Epub 2016 May 12 doi: 10.1159/000445474. PMID: 27169740
Batlle D, Moorthi KM, Schlueter W, Kurtzman N
Semin Nephrol 2006 Nov;26(6):471-8. doi: 10.1016/j.semnephrol.2006.12.001. PMID: 17275585

Clinical prediction guides

Rungroj N, Nettuwakul C, Sawasdee N, Sangnual S, Deejai N, Misgar RA, Pasena A, Khositseth S, Kirdpon S, Sritippayawan S, Vasuvattakul S, Yenchitsomanus PT
Clin Genet 2018 Nov;94(5):409-418. Epub 2018 Aug 9 doi: 10.1111/cge.13418. PMID: 30028003
Park E, Cho MH, Hyun HS, Shin JI, Lee JH, Park YS, Choi HJ, Kang HG, Cheong HI
Kidney Blood Press Res 2018;43(2):513-521. Epub 2018 Mar 29 doi: 10.1159/000488698. PMID: 29627839
Enerbäck S, Nilsson D, Edwards N, Heglind M, Alkanderi S, Ashton E, Deeb A, Kokash FEB, Bakhsh ARA, Van't Hoff W, Walsh SB, D'Arco F, Daryadel A, Bourgeois S, Wagner CA, Kleta R, Bockenhauer D, Sayer JA
J Am Soc Nephrol 2018 Mar;29(3):1041-1048. Epub 2017 Dec 14 doi: 10.1681/ASN.2017080840. PMID: 29242249Free PMC Article
Yenchitsomanus PT
Southeast Asian J Trop Med Public Health 2003 Sep;34(3):651-8. PMID: 15115146
Rötig A
J Nephrol 2003 Mar-Apr;16(2):286-92. PMID: 12768079

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...