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Alcaptonúria : breve revisão da literatura e série de casos
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A alcaptonúria é uma doença autossómica recessiva rara (prevalência 1:250000-1000000) caracterizada por um defeito na enzima homogentisato 1,2-dioxigenase (HGD) que provoca a acumulação de ácido homogentísico (HGA). Este composto é, na sua maioria, excretado na urina o que lhe confere uma cor negra após exposição ao ar que se manifesta desde o nascimento. Parte do HGA deposita-se no tecido conjuntivo o que se pensa ser responsável pela ocronose e pela artrite ocronótica, que se manifestam, respectivamente, durante a terceira e quarta décadas de vida. O diagnóstico é realizado através do doseamento urinário do HGA e complementado pelo estudo genético. Actualmente não existe terapêutica específica que tenha demonstrado alterar a história natural da doença, no entanto encontra-se em curso um ensaio clínico de fase 3 com um fármaco promissor – nitisiona – que poderá estar prestes a alterar esta realidade. Neste trabalho são apresentados seis casos clínicos de doentes portugueses entre os 23 e os 59 anos de idade seguidos no Centro de Referência de Doenças Hereditárias do Metabolismo (CRDRM) - Centro Hospitalar Lisboa Norte (CHLN). São descritas e analisadas as manifestações clínicas, diagnóstico e seguimento. Conclui-se que se trata de uma patologia subdiagnosticada cuja divulgação é fundamental para que o diagnóstico seja o mais precoce possível.
Alkaptonuria is a rare (prevalence 1:250000-1000000) autosomal recessive disease characterized by a defect in the homogentisate 1,2-dioxygenase (HGD) that leads to an accumulation of homogentisic acid (HGA). This compound is mostly excreted in urine, conferring it a dark colour when exposed to air, a sign that presents itself since birth. Part of the HGA deposits itself in connective tissues, and this is what is thought to be responsible for ochronosis and ochronotic arthropathy, which manifest during the third and fourth decades of live respectively. Diagnosis is made through measurement of HGA in urine and complemented with a genetic study. Currently there is no specific treatment to alter the natural history of the disease, however a phase 3 clinical trial with a promising drug- nitisinone- is in progress, and seems like this might change in the near future. The present article presents six cases of portuguese patients between the ages of 23 and 59 followed at Centro de Referência de Doenças Hereditárias do Metabolismo (CRDHM) - Centro Hospitalar Lisboa Norte (CHLN). The clinical manifestations, diagnosis and follow-up are described and analyzed. We concluded that this is an underdiagnosed disease in which the divulgation is essencial so the diagnosis is as early as possible.
Alkaptonuria is a rare (prevalence 1:250000-1000000) autosomal recessive disease characterized by a defect in the homogentisate 1,2-dioxygenase (HGD) that leads to an accumulation of homogentisic acid (HGA). This compound is mostly excreted in urine, conferring it a dark colour when exposed to air, a sign that presents itself since birth. Part of the HGA deposits itself in connective tissues, and this is what is thought to be responsible for ochronosis and ochronotic arthropathy, which manifest during the third and fourth decades of live respectively. Diagnosis is made through measurement of HGA in urine and complemented with a genetic study. Currently there is no specific treatment to alter the natural history of the disease, however a phase 3 clinical trial with a promising drug- nitisinone- is in progress, and seems like this might change in the near future. The present article presents six cases of portuguese patients between the ages of 23 and 59 followed at Centro de Referência de Doenças Hereditárias do Metabolismo (CRDHM) - Centro Hospitalar Lisboa Norte (CHLN). The clinical manifestations, diagnosis and follow-up are described and analyzed. We concluded that this is an underdiagnosed disease in which the divulgation is essencial so the diagnosis is as early as possible.
Descrição
Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2018
Palavras-chave
Alcaptonúria Ocronose Artropatia ocronótica