title: Progressive Familial Intrahepatic Cholestasis (PFIC) in Indian Children: Clinical Spectrum and Outcome.
abstract: OBJECTIVE
  To study the clinical and laboratory profile of children with progressive familial intrahepatic cholestasis (PFIC) and evaluate their outcome.
  
  
  METHODS
  The study is a retrospective review of all cases diagnosed with PFIC between January 2011 and July 2015. All children underwent histopathological examination and immunostaining. Management was done as per institute's protocol.
  
  
  RESULTS
  There were a total of 24 PFIC cases (PFIC 1-2, PFIC 2-19, PFIC 3-3). Eleven presented as neonatal cholestasis, whereas 13 others presented after 6 months of life. Median age of presentation in PFIC 2 was 5.5 months with a time lag of 13 months in diagnosis. PFIC 1 and 2 presented in infancy, whereas PFIC 3 presented late. Familial clustering was seen in 12 of 24 cases. Pruritus resolved with medical management in two-thirds of cases, 3 cases required biliary diversion (BD) with dramatic improvement. One child improved after liver transplantation.
  
  
  CONCLUSIONS
  PFIC accounts for 8% of neonatal cholestasis and 34% of cholestasis in older children with PFIC 2 being the commonest subtype. Medical therapy is successful in majority. Partial internal BD should be offered to non-cirrhotic low gamma glutamyl transferase PFIC with intractable pruritus. Progression to cirrhosis may be prevented or delayed by early diagnosis and timely intervention.
authors.affiliation: Department of Pediatric Hepatology, Institute of Liver and Biliary Sciences, New Delhi, India.
authors.forename: Sajan
authors.initials: S
authors.lastname: Agarwal
authors.affiliation: Department of Pediatric Hepatology, Institute of Liver and Biliary Sciences, New Delhi, India.
authors.forename: Bikrant Bihari
authors.initials: BB
authors.lastname: Lal
authors.affiliation: Department of Pediatric Hepatology, Institute of Liver and Biliary Sciences, New Delhi, India.
authors.forename: Dinesh
authors.initials: D
authors.lastname: Rawat
authors.affiliation: Department of Pathology, Institute of Liver and Biliary Sciences, New Delhi, India.
authors.forename: Archana
authors.initials: A
authors.lastname: Rastogi
authors.affiliation: Department of HPB Surgery, Institute of Liver and Biliary Sciences, New Delhi, India.
authors.forename: Kishore G S
authors.initials: KG
authors.lastname: Bharathy
authors.affiliation: Department of Pediatric Hepatology, Institute of Liver and Biliary Sciences, New Delhi, India.
authors.forename: Seema
authors.initials: S
authors.lastname: Alam
keywords: BD, biliary diversion; BSEP, bile salt export pump; DDLT, deceased donor liver transplantation; ESLD, end stage liver disease; GGT, gamma glutamyl transferase; HE, hepatic encephalopathy; ICP, intrahepatic cholestasis of pregnancy; LFT, liver functions test; LT, liver transplantation; MDR3, multi drug resistant protein 3; NCS, neonatal cholestasis syndrome; PEBD, partial external biliary diversion; PFIC, progressive familial intrahepatic cholestasis; PIBD, partial internal biliary diversion; UDCA, ursodeoxycholic acid; biliary diversion; gamma-glutamyl transferase; immunostaining; neonatal cholestasis; pruritus