Liječnički vjesnik, Vol. 139 No. 7-8, 2017.
Review article
ALKAPTONURIA – A CASE REPORT
Ana Parlov
Marin Petrić
Dijana Perković
Dušanka Martinović Kaliterna
Abstract
A 63-year-old patient, who was for a long time suspicious of inflammatory rheumatic disease (seronegative rheumatoid arthritis, spondyloarthropathies), was hospitalized due to progression of pain in the hips, knees and small joints of the hand. A few years ago she noticed that her ears and tip of the nose were flooded and urine was tarnishing in air. These symptoms fit the clinical presentation of an inherited metabolic disease alkaptonuria. Our patient manifested with arthropathy and also with the ochronosis (bluish black pigmentation of nails, scleras, cartilages, joints). The suspicion of alkaptonuria was confirmed by the analysis of urine in which elevated levels of the homogentisic acid were found. The purpose of this paper is to present a rare disease that mimics the inflammatory rheumatic diseases and degenerative changes in the joints, and for which there has not yet been discovered a specific treatment.
Keywords
Alkaptonuria – complications, diagnosis; Ochronosis – complications, diagnosis, etiology; Homogentisic acid – metabolism, urine; Spondylarthropathies – etiology; Arthritis, rheumatoid – etiology; Pigmentation disorders – etiology
Hrčak ID:
189781
URI
Publication date:
23.10.2017.
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