๐Ÿงฌ Neonatal Cholestasis: Disorders of Plasma Membrane Transporters

Nelson Textbook of Pediatrics 22nd Ed โ€” Section 404.1 | PFIC spectrum (Progressive Familial Intrahepatic Cholestasis). Low GGT cholestasis: PFIC1 (ATP8B1), PFIC2 (ABCB11/BSEP), PFIC4 (TJP2), PFIC5 (NR1H4/FXR), PFIC6 (MYO5B). High GGT cholestasis: PFIC3 (ABCB4/MDR3). Key features: pruritus, fat-soluble vitamin deficiency, risk of HCC (PFIC2), and response to surgical diversion or liver transplantation.

๐ŸŒ paeds.online โ€” Pakistan's Pediatric Platform

๐Ÿ“‹ 30 Clinical Scenarios โ€” Plasma Membrane Transporters & PFIC

๐Ÿ“‡ Highโ€‘Yield Review Cards (PFIC / Transporter Defects)

๐Ÿฉบ Clinical Presentations: PFIC & Transporter Disorders

Select a presentation for diagnosis and genetic clues.

๐Ÿ“‹ Stepwise Approach to PFIC & Transporter-Related Cholestasis

๐Ÿ”‘ Key Principles โ€” Disorders of Plasma Membrane Transporters (Nelson 404.1)
โ€ข Low GGT cholestasis โ†’ suspicion for PFIC1/2/4/5/6 or bile acid synthesis defects.
โ€ข High GGT cholestasis โ†’ PFIC3 (MDR3), biliary atresia, sclerosing cholangitis.
โ€ข PFIC2 (ABCB11): highest risk of hepatocellular carcinoma. Monitor with AFP and imaging.
โ€ข Treatment: nutritional support (MCT, ADEK), ursodeoxycholic acid (especially PFIC3), ileal bile acid transporter inhibitors (maralixibat/odevixibat), partial external biliary diversion (PEBD), and liver transplantation.

    โšก Reflex Prompts โ€” PFIC/Transporter Clinical Decisions

    ๐Ÿ“– Disorders of Plasma Membrane Transporters โ€” Core Summary