Case 2 -

MDR3/ABCB4 Gene Mutations Milton J. Finegold, Texas Children’s Hosp, Houston, TX

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Click here to download handout in 1-up pdf format for the current section Click here to download handout in 6-up pdf format for the current section Clinical History F.Q. – now 21 yo f 1998 Age 7 – abnormal LFT, high cholesterol 2001- cholecystectomy for stones 2003- ascites – KF rings; liver biopsy; chelation Rx (penicillamine, trientene) Pertinent Laboratory Data: 2005 – AST 85, ALT 80, AlkP 774, Bu 0.4, Bc 0; Pre-Alb 10.3; Serum bile acids x2 = 50; 149; A1AT M1,M3; lipids normal; AFP normal; normal Ceruloplasmin; low serum Cu; elevated 24 hr urine copper; Liver copper content 860 ug/gm; Mutation analysis negative for WD (Mayo) Case 2 - Figure 1 mallory body x500 Case 2 - Figure 2 x50 cirrhosis Case 2 - Figure 3 x100 micronodules Case 2 - Figure 4 x200 lymphocytes, piecemeal necrosis Case 2 - Figure 5 x400 copper