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A novel case report of benign recurrent intrahepatic cholestasis-associated USP53 genetic mutation in a Pakistani girl.
Kamran, Tafiya Erum; Faisal, Seyreen; Khalid, Rimsha; Haider, Zaira; Inam, Rida; Siddiqui, Yusra; Iqbal, Munir; Khan, Sabeen Abid.
Afiliación
  • Kamran TE; Shifa College of Medicine, Shifa Tameer-e-Millat University, Islamabad, Islamabad Capital Territory, Pakistan.
  • Faisal S; Shifa College of Medicine, Shifa Tameer-e-Millat University, Islamabad, Islamabad Capital Territory, Pakistan.
  • Khalid R; Shifa College of Medicine, Shifa Tameer-e-Millat University, Islamabad, Islamabad Capital Territory, Pakistan.
  • Haider Z; Shifa College of Medicine, Shifa Tameer-e-Millat University, Islamabad, Islamabad Capital Territory, Pakistan.
  • Inam R; Shifa College of Medicine, Shifa Tameer-e-Millat University, Islamabad, Islamabad Capital Territory, Pakistan.
  • Siddiqui Y; Shifa College of Medicine, Shifa Tameer-e-Millat University, Islamabad, Islamabad Capital Territory, Pakistan.
  • Iqbal M; Shifa College of Medicine, Shifa Tameer-e-Millat University, Islamabad, Islamabad Capital Territory, Pakistan.
  • Khan SA; Shifa College of Medicine, Shifa Tameer-e-Millat University, Islamabad, Islamabad Capital Territory, Pakistan.
SAGE Open Med Case Rep ; 12: 2050313X241266813, 2024.
Article en En | MEDLINE | ID: mdl-39071191
ABSTRACT
Benign recurrent intrahepatic cholestasis is an autosomal recessive disorder presenting with intermittent episodes of cholestatic jaundice. The initial episode of benign recurrent intrahepatic cholestasis tends to occur within the first two decades of a patient's life. Episodes can occur unprompted but can often be precipitated by infections or pregnancy. We report an interesting case of a 13-year-old girl presented with recurrent intrahepatic cholestasis. The patient has a unique homozygous USP53 genetic mutation, the first patient to present with this mutation within the South Asian region. The patient was initially misdiagnosed as a case of autoimmune hepatitis, and when presenting to our set-up was diagnosed as a case of benign recurrent intrahepatic cholestasis. The patient has since been managed on medication and remains regular in follow-up, responding well to treatment.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: SAGE Open Med Case Rep Año: 2024 Tipo del documento: Article País de afiliación: Pakistán Pais de publicación: Reino Unido
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: SAGE Open Med Case Rep Año: 2024 Tipo del documento: Article País de afiliación: Pakistán Pais de publicación: Reino Unido