Lancaster EPrints

Calculi and intracellular ochronosis in the submandibular tissues from a patient with alkaptonuria.

Taylor, Adam and Wilson, Peter J. M. and Ingrams, D. R. and Helliwell, T. R. and Gallagher, James A. and Ranganath, L. R. (2010) Calculi and intracellular ochronosis in the submandibular tissues from a patient with alkaptonuria. Journal of Clinical Pathology, 63 (2). pp. 186-188. ISSN 1472-4146

Full text not available from this repository.

Abstract

Alkaptonuria (AKU) is a rare autosomal recessive condition caused by deficiency of the enzyme homogentisate 1,2 dioxygenase, resulting in widespread deposition of oxidised homogentisic acid (HGA) polymer, primarily in joint tissues but also in other connective tissues. Macroscopic pigmentation of connective tissues in AKU is well documented and is the end point of a process that is not understood. Deposition in less common regions may provide clues to the pigment formation process. This is the first report of detection of ochronotic pigment in acinar cells and lumina in the submandibular gland of a patient with AKU. Deposition was noted in the apical region of the cells. A lobar duct presented a large calculus with unusual deposits possibly associated with calcium salts. This report highlights the effect that local and intracellular factors may have on converting HGA into polymeric derivatives in the absence of an extracellular matrix.

Item Type: Article
Journal or Publication Title: Journal of Clinical Pathology
Subjects: UNSPECIFIED
Departments: Faculty of Health and Medicine > Medicine
ID Code: 51994
Deposited By: ep_importer_pure
Deposited On: 12 Dec 2011 09:37
Refereed?: Yes
Published?: Published
Last Modified: 09 Apr 2014 22:57
Identification Number:
URI: http://eprints.lancs.ac.uk/id/eprint/51994

Actions (login required)

View Item