title: Elevation of gamma-glutamyl transferase in adult: Should we think about progressive familiar intrahepatic cholestasis?
abstract: BACKGROUND
  There are three types of progressive familial intrahepatic cholestasis (PFIC). Type 3 is characterized by elevated gamma-glutamyl transferase (γ-GT) and it can be diagnosed in adolescence/adulthood. The genetic defect of PFIC 3 appears to explain the pathogenesis of intrahepatic cholestasis of pregnancy (ICP).
  
  
  OBJECTIVE
  Draw attention to this rare disease, especially in adulthood, and clarify the association between ICP and PFIC 3.
  
  
  RESULTS
  We describe a series of cases from a Portuguese northern family with two brothers presenting chronic cholestasis since adolescence. Brother 1: since 15-years-old with pruritus and elevated γ-GT ∼6x. Brother 2: pre-term, due to severe maternal pruritus and jaundice, since 13-years-old with pruritus, jaundice and ∼8x γ-GT elevation. Common causes of cholestasis were excluded and liver histologies were nonspecific. Research for mutation on ABCB4 gene showed mutations in both alleles.
  
  
  CONCLUSIONS
  Disease and mechanisms that determine cholestasis are complex and their understanding may provide new therapeutics.
authors.affiliation: Department of Internal Medicine, Unidade Local de Saúde de Matosinhos - Hospital Pedro Hispano, Senhora da Hora Matosinhos, Portugal. Electronic address: oliveira.hugom@gmail.com.
authors.forename: Hugo M
authors.initials: HM
authors.lastname: Oliveira
authors.affiliation: Department of Internal Medicine, Centro Hospitalar do Porto - Hospital de Santo António, Porto, Portugal.
authors.forename: Cláudia
authors.initials: C
authors.lastname: Pereira
authors.affiliation: Division of Pediatric Gastroenterology, Department of Child and Adolescent, Centro Hospitalar do Porto - Hospital de Santo António, Porto, Portugal.
authors.forename: Ermelinda
authors.initials: E
authors.lastname: Santos Silva
authors.affiliation: CGC Genetics/Centro Genética Clinica, Porto, Portugal.
authors.forename: Jorge
authors.initials: J
authors.lastname: Pinto-Basto
authors.affiliation: Department of Internal Medicine, Centro Hospitalar do Porto - Hospital de Santo António, Porto, Portugal; Liver and Pancreatic Transplantation Unit, Centro Hospitalar do Porto - Hospital de Santo António, Porto, Portugal; Instituto de Ciências Biomédicas Abel Salazar (ICBAS) - Universidade do Porto, Porto, Portugal; Instituto de Saúde Publica da Universidade do Porto (ISPUP) - Universidade do Porto, Porto, Portugal.
authors.forename: Helena
authors.initials: H
authors.lastname: Pessegueiro Miranda
mesh_terms: D018435:ATP Binding Cassette Transporter, Subfamily B / Q000172:deficiency* / Q000235:genetics; D000293:Adolescent; D002780:Cholestasis, Intrahepatic / Q000150:complications / Q000201:enzymology* / Q000235:genetics*; D005260:Female; D006801:Humans; D041781:Jaundice, Obstructive / Q000209:etiology; D008297:Male; D009035:Mothers; D009154:Mutation; D010375:Pedigree; D011174:Portugal; D011247:Pregnancy; D011248:Pregnancy Complications / Q000235:genetics*; D011537:Pruritus / Q000209:etiology; D035781:Siblings; D005723:gamma-Glutamyltransferase / Q000097:blood*
chemical_list: D018435:ATP Binding Cassette Transporter, Subfamily B; C095122:multidrug resistance protein 3; D005723:gamma-Glutamyltransferase; C554782:gamma-glutamyltransferase, human
keywords: Cholestasis; Gamma-glutamyl transferase; MDR3; Progressive familial intrahepatic cholestasis