Shafa Orthopedic Journal

Published by: Kowsar

Severe Osteoarthritis of the Knee as an Early Symptom of Alkaptonuria: A Case Report

Alois Franz 1 and Mohammed Abusafieh 1 , *
Authors Information
1 Department of Orthopedics, Trauma and Hand Surgery, St. Marien Hospital, Siegen, Germany
Article information
  • Shafa Orthopedic Journal: February 2016, 3 (1); e4547
  • Published Online: February 20, 2016
  • Article Type: Case Report
  • Received: October 30, 2015
  • Revised: December 13, 2015
  • Accepted: December 25, 2015
  • DOI: 10.17795/soj-4547

To Cite: Franz A, Abusafieh M. Severe Osteoarthritis of the Knee as an Early Symptom of Alkaptonuria: A Case Report, Shafa Ortho J. 2016 ; 3(1):e4547. doi: 10.17795/soj-4547.

Copyright © 2016, Iran University of Medical Sciences.This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License ( which permits copy and redistribute the material just in noncommercial usages, provided the original work is properly cited.
1. Introduction
2. Case Presentation
3. Discussion
  • 1. Oexle K, Engel K, Tinschert S, Haas D, Lee-Kirsch MA. Three-generational alkaptonuria in a non-consanguineous family. J Inherit Metab Dis. 2008; 31 Suppl 2-30[DOI][PubMed]
  • 2. Ranganath LR, Jarvis JC, Gallagher JA. Recent advances in management of alkaptonuria (invited review; best practice article). J Clin Pathol. 2013; 66(5): 367-73[DOI][PubMed]
  • 3. Zatkova A, de Bernabe DB, Polakova H, Zvarik M, Ferakova E, Bosak V, et al. High frequency of alkaptonuria in Slovakia: evidence for the appearance of multiple mutations in HGO involving different mutational hot spots. Am J Hum Genet. 2000; 67(5): 1333-9[DOI][PubMed]
  • 4. Phornphutkul C, Introne WJ, Perry MB, Bernardini I, Murphey MD, Fitzpatrick DL, et al. Natural history of alkaptonuria. N Engl J Med. 2002; 347(26): 2111-21[DOI][PubMed]
  • 5. Albers SE, Brozena SJ, Glass LF, Fenske NA. Alkaptonuria and ochronosis: case report and review. J Am Acad Dermatol. 1992; 27(4): 609-14[PubMed]
  • 6. Mannoni A, Selvi E, Lorenzini S, Giorgi M, Airo P, Cammelli D, et al. Alkaptonuria, ochronosis, and ochronotic arthropathy. Semin Arthritis Rheum. 2004; 33(4): 239-48[PubMed]
  • 7. Gaines JJ. The pathology of alkaptonuric ochronosis. Hum Pathol. 1989; 20(1): 40-6[PubMed]
  • 8. La Du BJ. Alcaptonuria and ochronotic arthritis. Mol Biol Med. 1991; 8(1): 31-8[PubMed]
  • 9. Aydogdu S, Cullu E, Ozsoy MH, Sur H. Cementless total knee arthroplasty in ochronotic arthropathy: a case report with a 4-year follow-up. J Arthroplasty. 2000; 15(4): 539-43[DOI][PubMed]
  • 10. Kobak AC, Oder G, Kobak S, Argin M, Inal V. Ochronotic arthropathy: disappearance of alkaptonuria after liver transplantation for hepatitis B-related cirrhosis. J Clin Rheumatol. 2005; 11(6): 323-5[PubMed]
  • 11. Introne WJ, Phornphutkul C, Bernardini I, McLaughlin K, Fitzpatrick D, Gahl WA. Exacerbation of the ochronosis of alkaptonuria due to renal insufficiency and improvement after renal transplantation. Mol Genet Metab. 2002; 77(1-2): 136-42[PubMed]
  • 12. Hunter G, Long M. Abrasive Wear of Oxidized Zr-2.5 Nb, CoCrMo, and Ti-6Al-4V Against Bone Cement. 6th World Biomaterials Cong. Trans., Society for Biomaterials, Minneapolis, MN. 2000; : 835
  • 13. Sahoo MM, Mahapatra SK, Sethi GC, Dash SK. Patellar ligament rupture during total knee arthroplasty in an ochronotic patient. Acta Orthop Traumatol Turc. 2014; 48(3): 367-70[DOI][PubMed]
  • 14. Ozmanevra R, Guran O, Karatosun V, Gunal I. Total knee arthroplasty in ochronosis: a case report and critical review of the literature. Eklem Hastalik Cerrahisi. 2013; 24(3): 169-72[DOI][PubMed]
  • 15. Siavashi B, Zehtab MJ, Pendar E. Ochronosis of hip joint; a case report. Cases J. 2009; 2: 9337[DOI][PubMed]
  • 16. Vijaikumar M, Thappa DM, Srikanth S, Sethuraman G, Nadarajan S. Alkaptonuric ochronosis presenting as palmoplantar pigmentation. Clin Exp Dermatol. 2000; 25(4): 305-7[PubMed]
  • 17. Kumar RVM, Rajasekaran S. Spontaneous tendon ruptures in alkaptonuria. Journal of Bone & Joint Surgery, British Volume. 2003; 85(6): 883-6
  • 18. Rana AQ, Saeed U, Abdullah I. Alkaptonuria, more than just a mere disease. Journal of neurosciences in rural practice. 2015; 6(2): 257
  • 19. Spencer JM, Gibbons CL, Sharp RJ, Carr AJ, Athanasou NA. Arthroplasty for ochronotic arthritis: no failure of 11 replacements in 3 patients followed 6-12 years. Acta Orthop Scand. 2004; 75(3): 355-8[DOI][PubMed]
  • 20. Araki K, Sudo A, Hasegawa M, Uchida A. Devastating ochronotic arthropathy with successful bilateral hip and knee arthroplasties. J Clin Rheumatol. 2009; 15(3): 138-40[DOI][PubMed]
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