Alkaptonuria - A review of surgical and autopsy pathology

Histopathology

Volumn 53, Issue 5, 2008, Pages 503-512

  Helliwell, T R ^a   Gallagher, J A ^a   Ranganath, L ^b  

^a UNIVERSITY OF LIVERPOOL   (United Kingdom)

^b ROYAL LIVERPOOL UNIVERSITY HOSPITAL   (United Kingdom)

Author keywords

Alkaptonuria; Autopsy; Ochronosis; Pathology; Review

Indexed keywords

AGED; ALKAPTONURIA; AORTA STENOSIS; AUTOPSY; CARTILAGE CELL; CASE REPORT; CELL DEATH; FEMALE; HUMAN; OVARY CARCINOMA; PIGMENTATION; PRIORITY JOURNAL; REVIEW;

ALKAPTONURIA; AORTIC VALVE STENOSIS; AUTOPSY; FEMALE; HUMANS; MALE;

EID: 54949145369     PISSN: 03090167     EISSN: 13652559     Source Type: Journal    
DOI: 10.1111/j.1365-2559.2008.03000.x     Document Type: Review

References (31)

1. Rodriguez JM, Timm DE, Titus GP et al. Structural and functional analysis of mutations in alkaptonuria. Hum. Mol. Genet. 2000 9 2341 2350.
2. Fernandez-Canon JM, Granadino B, Beltran-Valero de Bernabe D et al. The molecular basis of alkaptonuria. Nat. Genet. 1996 14 19 24.
3. O'Brien WM, La Du BN, Bunim JJ. Biochemical, pathologic and clinical aspects of alcaptonuria, ochronosis and ochronotic arthropathy: review of world literature (1584-1962). Am. J. Med. 1963 34 813 838.
4. Phornphutkul C, Introne WJ, Perry MB et al. Natural history of alkaptonuria. New Engl. J. Med. 2002 347 2111 2121.
5. Virchow R. Ein Fall von allgemeiner Ochronose der Knorpel und Knorpelahnliche Theile. Virchow Archiv. Pathol. Anat. 1866 37 212 219.
6. Mannoni A, Selvi E, Lorenzini S et al. Alkaptonuria, ochronosis, and ochronotic arthropathy. Semin. Arthritis Rheum. 2004 33 239 248.
7. Galdston M, Steele JM, Dobriner K. Alcaptonuria and ochronosis. Am. J. Med. 1952 13 432 452.
8. Lichtenstein L, Kaplan L. Hereditary ochronosis. Pathologic changes observed in two necropsied cases. Am. J. Pathol. 1954 30 99 125.
9. Perrone A, Impara L, Bruni A, Primicerio P, Marini M. Radiographic and MRI findings in ochronosis. Radiologica Med. 2005 110 349 358.
10. Kenny D, Ptacin MJ, Bamrah VS, Almagro U. Cardiovascular ochronosis: a case report and review of the literature. Cardiology 1990 77 477 483.
11. Gould L, Reddy CVR, DePalma D, De Martino A, Kalish PE. Cardiac manifestations of ochronosis. J. Thorac. Cardiovasc. Surg. 1976 72 788 791.
12. Gaines JJ, Pai GM. Cardiovascular ochronosis. Arch. Pathol. Lab. Med. 1987 111 991 994.
13. Morava E, Kosztolanyi G, Engelke UF, Wevers RA. Reversal of clinical symptoms and radiographic abnormalities with protein restriction and ascorbic acid in alkaptonuria. Ann. Clin. Biochem. 2003 40 108 111.
14. Suwannarat P, O'Brien K, Perry MB et al. Use of nitisinone in patients with alkaptonuria. Metab. Clin. Exp. 2005 54 719 728.
15. Zannoni VG, Lomtevas N, Goldfinger S. Oxidation of homogentisic acid to ochronotic pigment in connective tissue. Biochim. Biophys. Acta 1969 177 94 105.
16. Kirkpatrick CJ, Mohr W, Mutschler W. Experimental studies on the pathogenesis of ochronotic arthropathy. Virch. Arch. Cell Pathol. 1984 47 347 360.
17. McClure J, Smith PS, Gramp AA. Calcium pyrophosphate dihydrate deposition in ochronotic arthropathy. J. Clin. Pathol. 1983 36 894 902.
18. Gaines JJ. The pathology of alkaptonuric ochronosis. Hum. Pathol. 1989 20 40 46.
19. Kutty MK, Iqbal QM, Teh EC. Ochronotic arthropathy. An electron microscopic study with a view on pathogenesis. Arch. Pathol. Lab. Med. 1974 98 55 57.
20. Anonymous. Case records of the Massachusetts General Hospital. N Engl. J. Med. 1966 274 454 462.
21. Nishimori I, Ito J, Hakuno T. An autopsy case of alkaptonuria with ochronosis. Acta Pathol. Japonica 1970 20 505 512.
22. Gaines JJ, Tom GD, Khankhanian N. An ultrastructural and light microscopic study of the synovium in ochronotic arthropathy. Hum. Pathol. 1987 18 1160 1164.
23. Manoj Kumar RV, Rajasekaran S. Spontaneous tendon ruptures in alkaptonuria. J. Bone Joint Surg. 2003 85 883 886.
24. Skinses OK. Generalized ochronosis. Arch. Pathol. Lab. Med. 1944 45 552 558.
25. Ptacin MJS, Bamrah VS. Ochronotic cardiovascular disease. Clin. Cardiol. 1985 8 441 445.
26. Hademenos GJ, Massound MD. Biophysical mechanisms of stroke. Stroke 1997 28 2067 2077.
27. Gilbert EF. The effects of metabolic diseases on the cardiovascular system. Am. J. Cardiovasc. Pathol. 1987 1 189 213.
28. Liu W, Prayson RA. Dura mater involvement in ochronosis (alkaptonuria). Arch. Pathol. Lab. Med. 2001 125 961 963.
29. Milch RA. Biochemical studies on the pathogenesis of collagen tissue changes in alcaptonuria. Clin. Orthop. 1962 24 213 219.
30. Murray JC, Lindberg KA, Pinnell SR. In vitro inhibition of chick embryo lysyl hydroxylase by homogentisic acid. J. Clin. Invest. 1977 59 1071 1079.
31. Introne WJ, Phornphutkul C, Bernardini I et al. Exacerbation of the ochronosis of alkaptonuria due to renal insufficiency and improvement after renal transplantation. Mol. Genet. Metab. 2002 77 136 142.