Document Detail


Ochronosis: a report of a case and a review of literature.
MedLine Citation:
PMID:  2686878     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
A patient with alkaptonuria and ochronotic pigment deposited in articular cartilage and sclerae clinically manifested a serious osteoarthritis of the peripheral and axial joints and synchondrosis, typically involved in long lasting cases of this hereditary defect of homogentisic acid oxidase. This is the first patient with this disorder reported, where a non-cemented total knee prosthesis (PCAR) was applied on both knees. This was possible due to the good quality of the bone stock, which did not seem to be impaired by ochronosis. Our patient had no cardiac symptoms or murmurs, but had a slight calcification in the annulus of aorta observed with echocardiography, a useful new method for screening this disease manifestation. A third new aspect reported is the immunopathology of the synovial tissue. Small pieces of torn-off cartilage were seen embedded in the synovial stroma. This was associated with a slight hyperplasia of the C3bi-receptor positive and proline hydroxylase positive type A and B synovial lining cells. Perivenular infiltrates contained CD2 positive T lymphocytes, mostly belonging to the CD4 subset, and some C3bi-receptor positive monocytes. Activated CD25 positive and immunoglobulin light chain positive T and B lymphocytes were absent or few. Because modern medicine has much to offer to those suffering from this ancient inborn error of metabolism in the form of new specific diagnostic methods and new surgical modes of treatment, such as endoprosthesis surgery and cardiac valve replacement, we also present a literature overview of this interesting condition.
Authors:
Y T Konttinen; V Hoikka; M Landtman; H Saari; S Santavirta; K Metsärinne; J E Seegmiller
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review    
Journal Detail:
Title:  Clinical and experimental rheumatology     Volume:  7     ISSN:  0392-856X     ISO Abbreviation:  Clin. Exp. Rheumatol.     Publication Date:    1989 Jul-Aug
Date Detail:
Created Date:  1990-01-25     Completed Date:  1990-01-25     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  8308521     Medline TA:  Clin Exp Rheumatol     Country:  ITALY    
Other Details:
Languages:  eng     Pagination:  435-44     Citation Subset:  IM    
Affiliation:
Fourth Department of Medicine, Helsinki University Central Hospital, Finland.
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MeSH Terms
Descriptor/Qualifier:
Dioxygenases*
Homogentisate 1,2-Dioxygenase
Humans
Male
Middle Aged
Ochronosis*
Osteoarthritis / etiology*
Oxygenases / deficiency
Chemical
Reg. No./Substance:
EC 1.13.-/Oxygenases; EC 1.13.11.-/Dioxygenases; EC 1.13.11.5/Homogentisate 1,2-Dioxygenase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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