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An Unusual Course of a 2,8-Dihydroxyadeninuria Crystalline Nephropathy Secondary to Adenine Phosphoribosyltransferase Deficiency.
Nourié, Nicole; Nassereddine, Hussein; Azar, Hiba.
Afiliação
  • Nourié N; Nephrology Department, Hôtel-Dieu de France, Saint Joseph University, Beirut, Lebanon.
  • Nassereddine H; Pathology Department, Hôtel-Dieu de France, Saint Joseph University, Beirut, Lebanon.
  • Azar H; Nephrology Department, Hôtel-Dieu de France, Saint Joseph University, Beirut, Lebanon.
Nephron ; 145(5): 503-507, 2021.
Article em En | MEDLINE | ID: mdl-34044400
ABSTRACT
Adenine phosphoribosyltransferase (APRT) deficiency is a rare disorder caused by an autosomal recessive genetic disease leading to the deposition of 2,8-dihydroxyadenine (2,8-DHA) in the kidney. The disease remains under-recognized, oftentimes diagnosed in late stages of renal insufficiency or a failed kidney allograft with biopsy-proven disease recurrence. Here, we present the case of a 59-year-old middle eastern male patient diagnosed with 2,8-DHA nephropathy after a very unusual presentation, and we show how the initiation of an appropriate therapy slowed down his evolution toward kidney replacement therapies. His disease was found to be secondary to a specific APRT gene variant c.188G>A p (Gly63Asp) also described in 4 other patients, all from middle eastern origins.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Adenina Fosforribosiltransferase / Urolitíase / Erros Inatos do Metabolismo Limite: Humans / Male / Middle aged Idioma: En Revista: Nephron Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Líbano

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Adenina Fosforribosiltransferase / Urolitíase / Erros Inatos do Metabolismo Limite: Humans / Male / Middle aged Idioma: En Revista: Nephron Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Líbano