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Generalized distal tubular acidosis

MedGen UID:
870817
•Concept ID:
C4025275
•
Disease or Syndrome
Synonym: Generalised distal tubular acidosis
 
HPO: HP:0004916

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGeneralized distal tubular acidosis

Professional guidelines

PubMed

Abnormal distal renal tubular acidification in patients with low bone mass: prevalence and impact of alkali treatment.
Sromicki JJ, Hess B
Urolithiasis 2017 Jun;45(3):263-269. Epub 2016 Jul 13 doi: 10.1007/s00240-016-0906-5. PMID: 27412028
Medical management of nephrolithiasis in Dallas: update 1987.
Pak CY
J Urol 1988 Sep;140(3):461-7. doi: 10.1016/s0022-5347(17)41692-2. PMID: 3045339
Renal tubular acidosis: mechanisms and management.
Quintanilla AP
Postgrad Med 1980 Apr;67(4):60-73. doi: 10.1080/00325481.1980.11715423. PMID: 7367362

Recent clinical studies

Etiology

Distal renal tubular acidosis: ERKNet/ESPN clinical practice points.
Trepiccione F, Walsh SB, Ariceta G, Boyer O, Emma F, Camilla R, Ferraro PM, Haffner D, Konrad M, Levtchenko E, Lopez-Garcia SC, Santos F, Stabouli S, Szczepanska M, Tasic V, Topaloglu R, Vargas-Poussou R, Wlodkowski T, Bockenhauer D
Nephrol Dial Transplant 2021 Aug 27;36(9):1585-1596. doi: 10.1093/ndt/gfab171. PMID: 33914889
Renal Tubular Acidosis: H(+)/Base and Ammonia Transport Abnormalities and Clinical Syndromes.
Kurtz I
Adv Chronic Kidney Dis 2018 Jul;25(4):334-350. doi: 10.1053/j.ackd.2018.05.005. PMID: 30139460Free PMC Article
Clinical and molecular aspects of distal renal tubular acidosis in children.
Besouw MTP, Bienias M, Walsh P, Kleta R, Van't Hoff WG, Ashton E, Jenkins L, Bockenhauer D
Pediatr Nephrol 2017 Jun;32(6):987-996. Epub 2017 Feb 10 doi: 10.1007/s00467-016-3573-4. PMID: 28188436
Renal tubular acidosis.
Santos F, Gil-Peña H, Alvarez-Alvarez S
Curr Opin Pediatr 2017 Apr;29(2):206-210. doi: 10.1097/MOP.0000000000000460. PMID: 28092281
Renal involvement in primary Sjögren syndrome.
François H, Mariette X
Nat Rev Nephrol 2016 Feb;12(2):82-93. Epub 2015 Nov 16 doi: 10.1038/nrneph.2015.174. PMID: 26568188

Diagnosis

Distal renal tubular acidosis and nephrocalcinosis as initial manifestation of primary sjögren's syndrome.
Chalkia A, Giannou P, Thomas K, Vassilopoulos D, Petras D
Saudi J Kidney Dis Transpl 2021 Sep-Oct;32(5):1470-1474. doi: 10.4103/1319-2442.344770. PMID: 35532720
Distal renal tubular acidosis: ERKNet/ESPN clinical practice points.
Trepiccione F, Walsh SB, Ariceta G, Boyer O, Emma F, Camilla R, Ferraro PM, Haffner D, Konrad M, Levtchenko E, Lopez-Garcia SC, Santos F, Stabouli S, Szczepanska M, Tasic V, Topaloglu R, Vargas-Poussou R, Wlodkowski T, Bockenhauer D
Nephrol Dial Transplant 2021 Aug 27;36(9):1585-1596. doi: 10.1093/ndt/gfab171. PMID: 33914889
Renal Tubular Acidosis: H(+)/Base and Ammonia Transport Abnormalities and Clinical Syndromes.
Kurtz I
Adv Chronic Kidney Dis 2018 Jul;25(4):334-350. doi: 10.1053/j.ackd.2018.05.005. PMID: 30139460Free PMC Article
Renal tubular acidosis.
Santos F, Gil-Peña H, Alvarez-Alvarez S
Curr Opin Pediatr 2017 Apr;29(2):206-210. doi: 10.1097/MOP.0000000000000460. PMID: 28092281
Renal involvement in primary Sjögren syndrome.
François H, Mariette X
Nat Rev Nephrol 2016 Feb;12(2):82-93. Epub 2015 Nov 16 doi: 10.1038/nrneph.2015.174. PMID: 26568188

Therapy

Clinical and genetic analysis of distal renal tubular acidosis in three Chinese children.
Liu J, Shen Q, Li G, Zhai Y, Fang X, Xu H
Ren Fail 2018 Nov;40(1):520-526. doi: 10.1080/0886022X.2018.1487858. PMID: 30230413Free PMC Article
Clinical and molecular aspects of distal renal tubular acidosis in children.
Besouw MTP, Bienias M, Walsh P, Kleta R, Van't Hoff WG, Ashton E, Jenkins L, Bockenhauer D
Pediatr Nephrol 2017 Jun;32(6):987-996. Epub 2017 Feb 10 doi: 10.1007/s00467-016-3573-4. PMID: 28188436
Distal Renal Tubular Acidosis Screening by Urinary Acidification Testing in Mexican Children.
Guerra-Hernández NE, Ordaz-López KV, Escobar-Pérez L, Gómez-Tenorio C, García-Nieto VM
Rev Invest Clin 2015 May-Jun;67(3):191-8. PMID: 26202743
Clinical approach to renal tubular acidosis in adult patients.
Reddy P
Int J Clin Pract 2011 Mar;65(3):350-60. doi: 10.1111/j.1742-1241.2009.02311.x. PMID: 21314872
A practical approach to rickets.
Allgrove J
Endocr Dev 2009;16:115-32. Epub 2009 Jun 3 doi: 10.1159/000223692. PMID: 19494664

Prognosis

Rare renal proximal tubular dysfunctions in primary biliary cholangitis.
Shi X, Guo T, Wen Y, Ye W, Ye W, Zheng K, Qin Y, Li X, Zhang F, Chen L
Ren Fail 2024 Dec;46(1):2302409. Epub 2024 Jan 26 doi: 10.1080/0886022X.2024.2302409. PMID: 38275162Free PMC Article
Clinical and molecular aspects of distal renal tubular acidosis in children.
Besouw MTP, Bienias M, Walsh P, Kleta R, Van't Hoff WG, Ashton E, Jenkins L, Bockenhauer D
Pediatr Nephrol 2017 Jun;32(6):987-996. Epub 2017 Feb 10 doi: 10.1007/s00467-016-3573-4. PMID: 28188436
Renal tubular acidosis.
Santos F, Gil-Peña H, Alvarez-Alvarez S
Curr Opin Pediatr 2017 Apr;29(2):206-210. doi: 10.1097/MOP.0000000000000460. PMID: 28092281
Renal involvement in primary Sjögren syndrome.
François H, Mariette X
Nat Rev Nephrol 2016 Feb;12(2):82-93. Epub 2015 Nov 16 doi: 10.1038/nrneph.2015.174. PMID: 26568188
Acid and mineral balances and bone in familial proximal renal tubular acidosis.
Lemann J Jr, Adams ND, Wilz DR, Brenes LG
Kidney Int 2000 Sep;58(3):1267-77. doi: 10.1046/j.1523-1755.2000.00282.x. PMID: 10972690

Clinical prediction guides

Distal renal tubular acidosis, autoimmune thyroiditis, enamel hypomaturation, and tooth agenesis caused by homozygosity of a novel double-nucleotide substitution in SLC4A4.
Kantaputra P, Guven Y, Aksu B, Kalayci T, Doğan C, Intachai W, Olsen B, Tongsima S, Ngamphiw C, Noppakun K
J Am Dent Assoc 2022 Jul;153(7):668-676. Epub 2022 Mar 5 doi: 10.1016/j.adaj.2021.12.009. PMID: 35260236
Clinical and genetic analysis of distal renal tubular acidosis in three Chinese children.
Liu J, Shen Q, Li G, Zhai Y, Fang X, Xu H
Ren Fail 2018 Nov;40(1):520-526. doi: 10.1080/0886022X.2018.1487858. PMID: 30230413Free PMC Article
Clinical and molecular aspects of distal renal tubular acidosis in children.
Besouw MTP, Bienias M, Walsh P, Kleta R, Van't Hoff WG, Ashton E, Jenkins L, Bockenhauer D
Pediatr Nephrol 2017 Jun;32(6):987-996. Epub 2017 Feb 10 doi: 10.1007/s00467-016-3573-4. PMID: 28188436
Medullary sponge kidney: state of the art.
Fabris A, Anglani F, Lupo A, Gambaro G
Nephrol Dial Transplant 2013 May;28(5):1111-9. Epub 2012 Dec 9 doi: 10.1093/ndt/gfs505. PMID: 23229933
Clinical approach to renal tubular acidosis in adult patients.
Reddy P
Int J Clin Pract 2011 Mar;65(3):350-60. doi: 10.1111/j.1742-1241.2009.02311.x. PMID: 21314872

Recent systematic reviews

Secondary hypokalemic paralysis with bulbar weakness and reversible electrophysiologic abnormalities: A case report and systematic review.
Ignacio KHD, Bagnas MAC, Espiritu AI, Reyes JPBT
J Clin Neurosci 2019 Dec;70:254-257. Epub 2019 Aug 19 doi: 10.1016/j.jocn.2019.08.063. PMID: 31439490

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