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Recurrent jaundice in family
- 1. Recurrent Jaundice in the family Presenter: Sahana Shankar - Kasturba Hospital, Mumbai Moderator: S K Yachha - SGPGI, Lucknow Panelists: Winita Hardikar - Royal Children's Hospital, Australia Vishnu Biradar - Dinanath Mangeshikar Hospital, Pune Y K Amdekar - BJ Wadia Hospital, Mumbai
- 2. Recurrent Jaundice In The Family Sahana Shankar Kasturba Hospital of Infectious Diseases Under guidance of Dr Aabha Nagral
- 3. History 3 years old boy born of second degree consanguineous union • h/o itching since 6 months of age • jaundice and dark coloured urine since 9 months of age - waxing and waning type • pale stools occasionally
- 4. Pedigree and family history
- 5. History • Birth history - full term LSCS. BW 3.6 kgs No post natal complications • Developmentally normal • Immunised for age
- 6. Examination • Icteric • No dysmorphism • Anthropometry Height Observed 86.5 cms Expected 95.2 cms Centile <5th Weight 11.7 kgs 14.4 kgs <5th • Per Abdomen - Liver palpable 3 cms, left lobe enlarged 5 cms below xiphi, Spleen not palpable
- 9. Investigations March 2012 Bilirubin Total direct October 2012 3.8 5.1 3.2 4.8 7.6 4.93 3.8 1.6 3.6 5.0 4.1 2.31 December 2012 March 2013 June 2013 November 2013 AST (U/L) 154 171 123 172 130 147 ALT (U/L) 156 173 134 130 90 107 Alk Phos (U/L) 436 663 768 719 467 475 GGT (U/L) 98 178 201 218 181 207 Total Prot 7.6 7.0 7.6 7.1 7.2 6.54 Albumin 3.4 3.9 3.5 3.3 4.3 4.07 Globulin 4.1 3.1 4.1 3.8 2.9 2.47 PT INR 1.01 1.07 1.03 1.17 1.8 1.01
- 10. Approach in cholestasis with pruritus • • • • • PFIC type I, II, III Ductal paucity Alpha-1 antitrypsin deficiency Sclerosing cholangitis Congenital stricture of CHD/CBD Causes of pruritus in a child at 6 months of age
- 11. Clinical PFIC1 PFIC2 PFIC3 Onset /severity of symptoms Newborn Recurrences + Newborn permanent severe Later onset 1m-20.5 y Jaundice ++ / recurrent initially +++ / severe and persistent ++ Pruritus ++ +++ ++ (mild & variable) Growth retard ++ +++ ADEK def Cirrhosis Gall stones ++ (rickets**) by 1st decade + (33%) ++ (rickets**) 1st year of life More often + Young adults + Pancreatitis + ++ - - - - Diarrhoea
- 12. Progressive familial intrahepatic cholestasis Biliary PFIC I PFIC 2 Pruritus ✓ ✓ 62% cases ✓ 88% Cholestasis ✓ ✓ 69% cases ✓ 75% cases γ GTP N or low / ↑ N or low ↑ ALP ↑ ↑ ↑ Cholesterol / Triglyceride Normal / low Normal / low ↑ dysfunction PFIC 3 Bile acid defects: low γ GTP, early onset, very rare, reduced bile acids
- 13. Ductal Paucity: Alagille syndrome • Pruritus, LFT, PT, Lipid profile • Diagnostic criteria Cardiac + vertebral Chronic cholestasis ✓ ¾ + Biopsy Posterior embryotoxon Facies Possibility ? Non- syndromic PILBD: Histologic diagnosis Age of presentation (group 2): 18-24 months Secondary to a primary disease
- 14. Literature ✦ A- 1 AT deficiency (n 15) 14% of cases as CLD without NCS Age Median 2.2 Years Hepatomegaly Splenomegaly 86% 60% Bilirubin (mg/dL) Median 4.7 AST/ GGT 48-312 / 19- 450 IU/L Protein / Albumin 4.5-5.7 / 2.4 – 4.6 mg/dL INR 1-1.5 ✦ J Hepatology 2000; 32: 986-92
- 15. A- 1 AT deficiency Occurrence Usually as NCS, Also beyond infancy Rare in India Pruritus ++ ↑ Choles / TG ✓✓
- 16. Sclerosing cholangitis (Uncommon) Age range: 1.5 - 19.6 y 0.5 - 10.3 y < 2 - 18 Y 12.5% cases <2 y Pruritus: 6-15% Hepatomegaly: 14-54% Elevated â–Ş Îł GTP 94% cases â–Ş Transaminases 91% â–Ş Total bilirubin 86% â–Ş Alkaline phosphatase 75% â–Ş Cholesterol 52% â–Ş Platelet count 38% âś“ J Pediatrics, 1994;124:49-56 Hepatology 1995;22:1415-22 Hepatology 2003;38:210-17 Cholangiography possibly compatible with PSC! Not classical More peripheral
- 17. Summary Chronic Cholestatic liver disease with onset in infancy with consanguinity and sibling death with high Alk Phos and GGT, normal liver synthetic function
- 18. Investigation • Abdominal ultrasound - hepatomegaly with bright echotexture and normal biliary tract • Viral Markers for Hep A,B, C, E - negative • Autoimmune markers - negative • Serum total bile acids: 129.01 (0-10µmol/L)
- 19. Liver Biopsy ➢ ➢ ➢ ➢ Preserved lobular architecture Canalicular cholestatis with lymphocytic infiltration into portal tracts and lobules Portal, periportal and portal to portal bridging fibrosis No paucity of ducts, steatosis, giant cell change,iron overload or storage cells seen Features suggestive of intrahepatic cholestasis and suggestive of PFIC
- 20. Immunostaining • Chronic hepatitis with intralobular cholestasis • Moderate portal tract fibrosis with portalportal bridging fibrosis • Widespread hepatocellular deposits of copper-binding protein • Absence of canalicular expression of multidrug resistance protein 3
- 21. Immunostaining Control showing MDR3 staining Patient - showing absence of MDR3 staining
- 22. Treatment • Patient is on ursodeoxycholic acid and fat soluble vitamins • Oral rifampicin has been started for itching • Presently on follow up with growth monitoring and LFT every three months