title: Cross-Sectional Analysis of Progressive Familial Intrahepatic Cholestasis in Puerto Rican Children.
abstract: OBJECTIVE
  Specific inherited disorders may be more common in island communities. Prior case reports suggest that cholestatic liver diseases may constitute a group of these inherited disorders in Puerto Rico. A cross-sectional survey of liver diseases in children was conducted to assess this hypothesis.
  
  
  METHODS
  A cross-sectional analysis was performed in patients with chronic cholestasis at "Hospital Pediátrico Universitario" in San Juan, Puerto Rico. Ten potential participants with high gamma-glutamyl transpeptidase (GGTP) cholestasis were identified. Therapeutic response to ursodeoxycholic acid (UDCA) was assessed by the examination of alanine aminotransferase (ALT) and GGTP changes.
  
  
  RESULTS
  Four participants, who were under 1 year of age, presented with pruritus, abnormal liver biochemistries, and/or hepatomegaly. Older patients had similar presentations but also had splenomegaly, jaundice, and/or esophageal varices. Three had progression of liver disease, 2 required liver transplantion after partial external biliary diversion. The third patient developed hypersplenism despite having a normal liver profile on UDCA. Six of 10 patients had normalization of their liver profiles (ALT<40 IU/L; GGTP<100 IU/L) after UDCA administration (before: ALT = 182 ± 61 and GGTP = 353 ± 192; after: ALT = 30 ± 15 and GGTP = 21 ± 13; p-value<0.001).
  
  
  CONCLUSIONS
  The response to UDCA in a sub-group of patients in Puerto Rico with high GGTP cholestatic liver disease is described. The findings suggest the possibility that ABCB4-related disease is an important genetic disorder in Puerto Rico. Future investigations utilizing the genome sequence are important to the further understand liver disease in Puerto Rico.
authors.affiliation: Children's Healthcare of Atlanta, GA.
authors.forename: Dellys M
authors.initials: DM
authors.lastname: Soler
authors.affiliation: School of Medicine, University of Puerto Rico Medical Sciences Campus, San Juan, Puerto Rico.
authors.forename: Antonio I
authors.initials: AI
authors.lastname: Del Valle
authors.affiliation: School of Medicine, University of Puerto Rico Medical Sciences Campus, San Juan, Puerto Rico.
authors.forename: David
authors.initials: D
authors.lastname: Fernandez-Lube
authors.affiliation: Texas Children's Hospital, Houston, Texas.
authors.forename: Benjamin L
authors.initials: BL
authors.lastname: Shneider
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002756:Cholagogues and Choleretics / Q000627:therapeutic use*; D002780:Cholestasis, Intrahepatic / Q000188:drug therapy*; D003430:Cross-Sectional Studies; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D011647:Puerto Rico; D014580:Ursodeoxycholic Acid / Q000627:therapeutic use*
chemical_list: D002756:Cholagogues and Choleretics; D014580:Ursodeoxycholic Acid
keywords: Bile acid; Cirrhosis; Liver; Pediatric; Ursodeoxycholic acid