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Progressiv familial intrahepatic cholestasis type 1 case presentation
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Progressiv familial intrahepatic cholestasis type 1 case presentation



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  • 1. Dr. Ajay Jhaveri Department of GastroenterologyJaslok Hospital & Research Centre
  • 2.  4yrs male child, 3rd born of non consanguineous marriage Presented in Oct 2010 : Itching since 3 months ? Jaundice since 3 months Intermittent diarrhoea since 3 monthsProgressive itching Accompanied with jaundice, yellowish discolouration of sclera and clay colored stoolsDiarrhoea – watery stools, 5-6 / day, lasting for a week
  • 3.  Milestones normal No h/o fever No h/o pain in the abdomen No h/o intake of alternative medications
  • 4.  Patient had 2 elder brothers who expired at the age of 5 years and 9 years. Both presented with• severe itching with a traumatic cataract in one of them,• stigmata of chronic liver disease disease in form of ascites, jaundice and expired due to end stage liver disease Mother also had an abortion and a neonate who expired within 12 hrs of birth before patient was born
  • 5.  Vitals – Normal. No dysmorphic facies No Pallor, icterus, cyanosis, clubbing, lymphadenopathy and edema feet Scratch marks ++ No stigmata of chronic liver disease Height and weight were below the 5th percentile ( 10.5 kgs, 89 cms ) Abdominal examination- firm hepatomegaly approximately 1.5 cms below the subcoastal margin Rest systemic exam – normal
  • 6.  Cholestatic liver disease in a 4 yr child with a positive family history
  • 7.  Progressive Familial Intrahepatic Cholestasis Bile duct paucity Primary Sclerosing Cholangitis Inborn errors of bile acid synthesis
  • 8. Test Value Test ValueAlk Phos 587 (30-350) Hb 12 gm%AST 52(5-40) WBC 14600 Platelets 445KALT 50(5-40) Creatinine 0.5T. Bilirubin 1.5 ( 0.2-1.3) HBsAg NegativeD. Bilirubin 1.0 (0.1-0.8) HIV NegativeProtein 7.9 Anti HCV NegativeAlbumin 4.3 ANA NegativeAFP 15 ASMA NegativeINR 1 Anti LKM1 NegativeGGT 29
  • 9.  Patient had a Liver biopsy 3 years ago at another hospital and another one 6 months before coming to us ( February 2010 ).
  • 10.  Treatment offered – Operation done – CHOLECYSTO-JEJUNO CUTANEOUS STOMA Post op period: intermittent diarrhoea still persists Itching has been almost completely relieved Has gained 3 kg weight and 7 cms height but is still below the 5th percentile.
  • 11. Expanded portal tract, normal bile ductsNormal hepatocytes Mild degenerationCourtesy Dr. Shaila Khubchandani, Jaslok Hospital
  • 12.  Microscopy: Mild degeneration of the hepatocytes Bile ducts normal Expanded portal area Inflammatory cells No Bile stasis
  • 13. BSEP stain positive GGT stain absentCourtesy Dr. Alex Kinsley,Kings College, U.K. MRP 3 stain positive
  • 14. Bile canaliculihepatocyte Bile plugs (Bylers bile) hepatocyte Courtesy Dr. S. Khubchandani, JHRC
  • 15.  4 year male child with cholestatic liver disease with raised alkaline phosphatase normal GGT with positive family history with positive BSEP and MDR3 staining is Progressive Familial Intrahepatic cholestasis type 1