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Alcaptonúria (ocronose): relato de caso de irmãos / Alkaptonuria (ochronosis): a case report of siblings
Raymundo, José Luis Pozo; Reckers, Leandro José; Silva, Natália Zanini da; Miranda, Isabel Hahn; González, Álvaro Porciúncula; Klein, Kevin Maahs.
  • Raymundo, José Luis Pozo; Universidade Federal de Pelotas. Pelotas. BR
  • Reckers, Leandro José; s.af
  • Silva, Natália Zanini da; s.af
  • Miranda, Isabel Hahn; s.af
  • González, Álvaro Porciúncula; s.af
  • Klein, Kevin Maahs; s.af
Rev. AMRIGS ; 60(4): 374-376, out.-dez. 2016. ilus
Article in Portuguese | LILACS | ID: biblio-847864
Responsible library: BR18.1
Localization: BR18.1
RESUMO
A Alcaptonúria é uma doença autossômica recessiva rara caracterizada pelo acúmulo de ácido homogentísico. Denomina-se também ocronose e manifesta-se por pigmentação azulada de tecidos orgânicos e urina enegrecida, além de artropatia. A seguir, será relatado o caso de irmãos portadores de artropatia ocronótica e a conduta ortopédica (AU)
ABSTRACT
Alkaptonuria is a rare autosomal recessive disease characterized by the accumulation of homogentisic acid. It is also called ochronosis and is manifested by bluish pigmentation of organic tissues and blackened urine, besides arthropathy. Here the authors report the case of siblings with ochronotic arthropathy and the orthopedic management (AU)
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Index: LILACS (Americas) Main subject: Alkaptonuria / Ochronosis Type of study: Case report Limits: Female / Humans / Male Language: Portuguese Journal: Rev. AMRIGS Journal subject: Medicine Year: 2016 Type: Article Affiliation country: Brazil Institution/Affiliation country: Universidade Federal de Pelotas/BR

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Index: LILACS (Americas) Main subject: Alkaptonuria / Ochronosis Type of study: Case report Limits: Female / Humans / Male Language: Portuguese Journal: Rev. AMRIGS Journal subject: Medicine Year: 2016 Type: Article Affiliation country: Brazil Institution/Affiliation country: Universidade Federal de Pelotas/BR