Ochronotic arthropathy as a paradigm of metabolically induced degenerative joint disease. A case-based review
| Autor: | A. L. Cedeño-Garcidueñas, A. Bernal-González, L. Gutiérrez-Pérez, Cristina Hernández-Díaz, Lucio Ventura-Ríos, R. Pichardo-Bahena, Carlos Pineda |
|---|---|
| Rok vydání: | 2014 |
| Předmět: |
Male
musculoskeletal diseases 0301 basic medicine medicine.medical_specialty Pathology Connective tissue Osteoarthritis Alkaptonuria 03 medical and health sciences chemistry.chemical_compound 0302 clinical medicine Rheumatology Internal medicine medicine Humans Homogentisic acid Ultrasonography Homogentisate 1 2-dioxygenase 030203 arthritis & rheumatology Ochronosis business.industry General Medicine Middle Aged medicine.disease Tissue Degeneration 030104 developmental biology medicine.anatomical_structure chemistry Joint Diseases Tomography X-Ray Computed business |
| Zdroj: | Clinical Rheumatology. 35:1389-1395 |
| ISSN: | 1434-9949 0770-3198 |
| Popis: | Alkaptonuria is a rare, hereditary metabolic disorder in which a deficiency in the homogentisate 1,2-dioxygenase enzyme results in an accumulation of homogentisic acid. Deposition of excess homogentisic acid in different intra- and extra-articular structures with high content of connective tissue causes brownish-black pigmentation and weakening, ultimately resulting in tissue degeneration and finally osteoarthritis. Ochronotic arthropathy is considered a rapidly progressive, disabling condition in which weight-bearing joints and the thoracolumbar spine are predominantly affected. Patients often require multiple joint replacements, such as in the case of the patient presented here. At present, there is no definitive cure for ochronosis, and management is predominantly symptomatic. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full text from SpringerLink