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Renal tubular lysine transport defect

MedGen UID:
870273
•Concept ID:
C4024714
•
Disease or Syndrome
HPO: HP:0008272

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRenal tubular lysine transport defect

Conditions with this feature

Lysine malabsorption syndrome
MedGen UID:
167097
•Concept ID:
C0796023
•
Disease or Syndrome
Lysine malabsorption with severe malnourishment, extreme flaccidity, and psychomotor retardation.
See: Condition Record
Lysine malabsorption syndrome

Recent clinical studies

Etiology

Cystine calculi: challenging group of stones.
Ahmed K, Dasgupta P, Khan MS
Postgrad Med J 2006 Dec;82(974):799-801. doi: 10.1136/pgmj.2005.044156. PMID: 17148700Free PMC Article
Urinary excretion of total cystine and the dibasic amino acids arginine, lysine and ornithine in relation to genetic findings in patients with cystinuria treated with sulfhydryl compounds.
Fjellstedt E, Harnevik L, Jeppsson JO, Tiselius HG, Söderkvist P, Denneberg T
Urol Res 2003 Dec;31(6):417-25. Epub 2003 Oct 25 doi: 10.1007/s00240-003-0366-6. PMID: 14586528
Renal transport of lysine and arginine in cystinuria.
Kato T
Tohoku J Exp Med 1983 Jan;139(1):9-16. doi: 10.1620/tjem.139.9. PMID: 6404004
Cataract in a fetus at risk for oculo-cerebro-renal syndrome (Lowe).
Endres W, Schaub J, Stefani FH, Wirtz A, Zahn V
Klin Wochenschr 1977 Feb 1;55(3):141-4. doi: 10.1007/BF01490242. PMID: 556788

Diagnosis

Renal Fanconi syndrome with ultrastructural defects in lysinuric protein intolerance.
Benninga MA, Lilien M, de Koning TJ, Duran M, Versteegh FG, Goldschmeding R, Poll-The BT
J Inherit Metab Dis 2007 Jun;30(3):402-3. Epub 2007 May 19 doi: 10.1007/s10545-007-0446-9. PMID: 17530437
Role of WNK kinases in regulating tubular salt and potassium transport and in the development of hypertension.
Gamba G
Am J Physiol Renal Physiol 2005 Feb;288(2):F245-52. doi: 10.1152/ajprenal.00311.2004. PMID: 15637347
Lysinuric protein intolerance presenting deficiency of argininosuccinate synthetase.
Ono N, Kishida K, Tokumoto K, Watanabe M, Shimada Y, Yoshinaga J, Fujii M
Intern Med 1992 Jan;31(1):55-9. doi: 10.2169/internalmedicine.31.55. PMID: 1568044
Cataract in a fetus at risk for oculo-cerebro-renal syndrome (Lowe).
Endres W, Schaub J, Stefani FH, Wirtz A, Zahn V
Klin Wochenschr 1977 Feb 1;55(3):141-4. doi: 10.1007/BF01490242. PMID: 556788

Therapy

Urinary excretion of total cystine and the dibasic amino acids arginine, lysine and ornithine in relation to genetic findings in patients with cystinuria treated with sulfhydryl compounds.
Fjellstedt E, Harnevik L, Jeppsson JO, Tiselius HG, Söderkvist P, Denneberg T
Urol Res 2003 Dec;31(6):417-25. Epub 2003 Oct 25 doi: 10.1007/s00240-003-0366-6. PMID: 14586528
Oral supplementation corrects plasma lysine concentrations in lysinuric protein intolerance.
Lukkarinen M, Näntö-Salonen K, Pulkki K, Aalto M, Simell O
Metabolism 2003 Jul;52(7):935-8. doi: 10.1016/s0026-0495(03)00089-1. PMID: 12870174
Lysinuric protein intolerance presenting deficiency of argininosuccinate synthetase.
Ono N, Kishida K, Tokumoto K, Watanabe M, Shimada Y, Yoshinaga J, Fujii M
Intern Med 1992 Jan;31(1):55-9. doi: 10.2169/internalmedicine.31.55. PMID: 1568044
Renal handling of diamino acids in lysinuric protein intolerance.
Simell O, Perheentupa J
J Clin Invest 1974 Jul;54(1):9-17. doi: 10.1172/JCI107753. PMID: 4600043Free PMC Article

Prognosis

Lysinuric protein intolerance (LPI): a multi organ disease by far more complex than a classic urea cycle disorder.
Ogier de Baulny H, Schiff M, Dionisi-Vici C
Mol Genet Metab 2012 May;106(1):12-7. Epub 2012 Feb 17 doi: 10.1016/j.ymgme.2012.02.010. PMID: 22402328

Clinical prediction guides

Potassium-regulated distal tubule WNK bodies are kidney-specific WNK1 dependent.
Boyd-Shiwarski CR, Shiwarski DJ, Roy A, Namboodiri HN, Nkashama LJ, Xie J, McClain KL, Marciszyn A, Kleyman TR, Tan RJ, Stolz DB, Puthenveedu MA, Huang CL, Subramanya AR
Mol Biol Cell 2018 Feb 15;29(4):499-509. Epub 2017 Dec 13 doi: 10.1091/mbc.E17-08-0529. PMID: 29237822Free PMC Article
Renal handling of dibasic amino acids and cystine in cystinuria.
Kato T
Clin Sci Mol Med 1977 Jul;53(1):9-15. doi: 10.1042/cs0530009. PMID: 872525
Renal handling of diamino acids in lysinuric protein intolerance.
Simell O, Perheentupa J
J Clin Invest 1974 Jul;54(1):9-17. doi: 10.1172/JCI107753. PMID: 4600043Free PMC Article

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