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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
Proximal renal tubular acidosis-ocular anomaly syndrome (PRTAO) is a rare autosomal recessive systemic disease resulting from isolated impairment of bicarbonate (HCO3-) reabsorption in the proximal renal tubules, which is characterized by a decreased renal HCO3- threshold. Affected individuals exhibit stunted growth and eye anomalies, including band keratopathy, cataracts, and glaucoma. Affected individuals may also exhibit impaired intellectual development and dental defects (Igarashi et al., 2001; Inatomi et al., 2004; Dinour et al., 2004).

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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