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Bicarbonate-wasting renal tubular acidosis

MedGen UID:
347681
Concept ID:
C1858626
Disease or Syndrome; Finding
Synonym: Renal bicarbonate wasting
 
HPO: HP:0004910

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBicarbonate-wasting renal tubular acidosis

Conditions with this feature

Renal tubular acidosis 3
MedGen UID:
336601
Concept ID:
C1849435
Disease or Syndrome
Autosomal recessive proximal renal tubular acidosis
MedGen UID:
370883
Concept ID:
C1970309
Disease or Syndrome
A rare autosomal recessive form of proximal renal tubular acidosis characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage. Presentation is typically with hyperchloremic acidosis, usually occurring in childhood. Extrarenal manifestations include ocular abnormalities (band keratopathy, glaucoma, and cataracts), intellectual disability and severe growth retardation. Other features like dental enamel defects, basal ganglia calcification and pancreatitis are sometimes present.

Professional guidelines

PubMed

Morris CG, Low J
Anaesthesia 2008 Apr;63(4):396-411. doi: 10.1111/j.1365-2044.2007.05371.x. PMID: 18336491

Recent clinical studies

Etiology

Murphy JL
Pediatrics 1992 Jun;89(6 Pt 1):1072-4. PMID: 1594350
Lameire N, Matthys E
Am J Kidney Dis 1986 Sep;8(3):151-8. doi: 10.1016/s0272-6386(86)80018-x. PMID: 3019127
Rodriguez-Soriano J, Vallo A, Castillo G, Oliveros R
J Pediatr 1982 Nov;101(5):669-76. doi: 10.1016/s0022-3476(82)80288-6. PMID: 7131138
McSherry E, Morris RC Jr
J Clin Invest 1978 Feb;61(2):509-27. doi: 10.1172/JCI108962. PMID: 621287Free PMC Article
Leumann EP, Steinmann B
Pediatr Res 1975 Oct;9(10):767-73. doi: 10.1203/00006450-197510000-00004. PMID: 241961

Diagnosis

Morris CG, Low J
Anaesthesia 2008 Apr;63(4):396-411. doi: 10.1111/j.1365-2044.2007.05371.x. PMID: 18336491
Murphy JL
Pediatrics 1992 Jun;89(6 Pt 1):1072-4. PMID: 1594350
Tsau YK, Chen CH, Tsai WS, Chiou YM
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi 1990 Jul-Aug;31(4):205-13. PMID: 2264480
Rodriguez-Soriano J, Vallo A, Castillo G, Oliveros R
J Pediatr 1982 Nov;101(5):669-76. doi: 10.1016/s0022-3476(82)80288-6. PMID: 7131138
Droste E, Mietens C
Z Kinderheilkd 1975;119(3):151-9. doi: 10.1007/BF00445022. PMID: 238344

Therapy

Murphy JL
Pediatrics 1992 Jun;89(6 Pt 1):1072-4. PMID: 1594350
Murphy JL, Griswold WR, Reznik VM, Mendoza SA
Child Nephrol Urol 1990;10(1):49-50. PMID: 2354467
McSherry E
Kidney Int 1978 Oct;14(4):349-54. doi: 10.1038/ki.1978.135. PMID: 366229
Droste E, Mietens C
Z Kinderheilkd 1975;119(3):151-9. doi: 10.1007/BF00445022. PMID: 238344
McSherry E, Sebastian A, Morris RC Jr
J Clin Invest 1972 Mar;51(3):499-514. doi: 10.1172/jci106838. PMID: 5011097Free PMC Article

Prognosis

Iacobelli S, Guignard JP
Pediatr Nephrol 2020 Feb;35(2):221-228. Epub 2018 Nov 19 doi: 10.1007/s00467-018-4142-9. PMID: 30456666
Morris CG, Low J
Anaesthesia 2008 Apr;63(4):396-411. doi: 10.1111/j.1365-2044.2007.05371.x. PMID: 18336491
Yang CW, Pan MJ, Wu MS, Chen YM, Tsen YT, Lin CL, Wu CH, Huang CC
Am J Kidney Dis 1997 Dec;30(6):840-5. doi: 10.1016/s0272-6386(97)90091-3. PMID: 9398130
McSherry E, Morris RC Jr
J Clin Invest 1978 Feb;61(2):509-27. doi: 10.1172/JCI108962. PMID: 621287Free PMC Article

Clinical prediction guides

Iacobelli S, Guignard JP
Pediatr Nephrol 2020 Feb;35(2):221-228. Epub 2018 Nov 19 doi: 10.1007/s00467-018-4142-9. PMID: 30456666
Myers EJ, Yuan L, Felmlee MA, Lin YY, Jiang Y, Pei Y, Wang O, Li M, Xing XP, Marshall A, Xia WB, Parker MD
J Physiol 2016 Nov 1;594(21):6267-6286. Epub 2016 Aug 2 doi: 10.1113/JP272252. PMID: 27338124Free PMC Article
Rodriguez-Soriano J, Vallo A, Castillo G, Oliveros R
J Pediatr 1982 Nov;101(5):669-76. doi: 10.1016/s0022-3476(82)80288-6. PMID: 7131138
McSherry E, Morris RC Jr
J Clin Invest 1978 Feb;61(2):509-27. doi: 10.1172/JCI108962. PMID: 621287Free PMC Article

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