Ochronotic Arthropathy and Alkaptonuria (Ochronosis): Case Report

Abstract

Alkaptonuria (AKU) is a rare genetic condition resulting from a deficiency in the homogentisic acid oxidase enzyme, which is produced by the liver and kidneys, that interferes with the metabolism of the amino acids phenylalanine and tyrosine. Although it may not cause symptoms, AKU can lead to ochronosis, the abnormal accumulation in body tissues of a pigment called alkapton. Over time, this pigment accumulation in the joints may result in secondary osteoarthritis known as ochronotic arthropathy, the most debilitating form of the disease. Since this is a rare condition, not widely discussed, we herein report a case to describe a diagnosis of ochronotic arthropathy of the knee only identified during surgery. Given the rarity of this condition, especially in Brazil, case descriptions will help understand the national epidemiology and disseminate more information about alkaptonuria and its clinical manifestations, particularly those of osteoarticular nature.

Keywords

alkaptonuria - arthropathy - ochronosis

Financial Support

The authors declare that the present research did not receive any specific funding from agencies in the public, commercial, or not-for-profit sectors.

Work carried out at the Universidade Federal Rural do Semi-Árido (Ufersa), Mossoró, RN, Brazil.

Publikationsverlauf

Eingereicht: 26. Februar 2023

Angenommen: 29. Mai 2023

Artikel online veröffentlicht:
23. April 2024

• Referências

• 1 Zatkova A. An update on molecular genetics of Alkaptonuria (AKU). J Inherit Metab Dis 2011; 34 (06) 1127-1136
• 2 Gonçalves FPA, Ribeiro FR, Filardi CS, Brasil Filho R. Artropatia ocronótica. Acta Ortop Bras 2006; 14 (01) 40-41
• 3 da Silva Martins Ferreira AM, Lima Santos F, Castro Costa AM, Pereira Barbosa BM, Reis Rocha RM, Fontes Lebre JF. Knee osteoarthrosis secondary to ochronosis - clinical case. Rev Bras Ortop 2014; 49 (06) 675-680
• 4 Kellgren JH, Lawrence JS. Radiological assessment of osteo-arthrosis. Ann Rheum Dis 1957; 16 (04) 494-502
• 5 Mistry JB, Bukhari M, Taylor AM. Alkaptonuria. Rare Dis 2013; 1: e27475
• 6 La Du Jr BN. Are we ready to try to cure alkaptonuria?. Am J Hum Genet 1998; 62 (04) 765-767
• 7 Phornphutkul C, Introne WJ, Perry MB, Bernardini I, Murphey MD, Fitzpatrick DL. et al. Natural history of alkaptonuria. N Engl J Med 2002; 347 (26) 2111-2121
• 8 Ranganath L, Taylor AM, Shenkin A, Fraser WD, Jarvis J, Gallagher JA, Sireau N. Identification of alkaptonuria in the general population: a United Kingdom experience describing the challenges, possible solutions and persistent barriers. J Inherit Metab Dis 2011; 34 (03) 723-730
• 9 Srsen S, Müller CR, Fregin A, Srsnova K. Alkaptonuria in Slovakia: thirty-two years of research on phenotype and genotype. Mol Genet Metab 2002; 75 (04) 353-359
• 10 Vilboux T, Kayser M, Introne W, Suwannarat P, Bernardini I, Fischer R. et al. Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria. Hum Mutat 2009; 30 (12) 1611-1619