Cholestasis
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Severe ATP8B1 deficiency
| Pharmacotherapy | Ineffective |
Surgical interruption of enterohepatic circulation 1, 2 | Can incl partial/total external diversion, partial/total internal diversion, or ileal exclusion Primary surgical therapy; can ↓ pruritus & slow or reverse progression to hepatic fibrosis Consider LTX if cirrhosis is present.
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LTX considered when liver disease progresses to decompensated cirrhosis | In some LTX constitutes definitive therapy; in others secretory diarrhea in absence of steatorrhea continues or worsens after LTX Consideration of diversion at time of transplantation to mitigate post-transplant diarrhea & steatohepatitis 3
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Mild-to-moderate ATP8B1 deficiency
| Nasobiliary drainage 4 & extracorporeal liver support 5 | May hasten end of episode of cholestasis |
Surgical interruption of enterohepatic circulation | Benefit is unknown |
LTX | Difficult to justify |
Pruritus
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Severe ATP8B1 deficiency
| Choleretic agents (e.g., phenobarbital & UDCA, cholestyramine, rifampin, antihistamines, carbamazepine, sertraline, naltrexone, UVB light therapy, plasmapheresis) |
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Mild-to-moderate ATP8B1 deficiency
| Rifampicin, UDCA, sertraline, 7 naltrexone, 8 & bile acid binding resin | May be efficacious 9 |
Secretory diarrhea
| May require IV fluids | Bile acid chelators 10 may ameliorate diarrhea after LTX, as they may divert bile produced by allograft away from the native gut. 11 Clonidine has palliated diarrhea after LTX in some persons. 12 Consider diversion at time of transplantation to mitigate post-transplant diarrhea & steatohepatitis. 3
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Poor growth
| Medium-chain triglyceride-based formulas | May prevent &/or treat growth failure Nasogastric tube feeding has been helpful in some. May not be responsive to LTX
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Nutritional deficiencies (incl vitamins A, D, E, K)
| Fat-soluble vitamin supplementation to alleviate malabsorption of fat-soluble vitamins | Preparations of vitamin E (e.g., tocopheryl polyethylene glycol-1000 succinate) are useful in severe cholestasis. Vitamin K administration in newborn period (1st 28 days of life) is essential.
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Sensorineural hearing loss
| Habituation per treating audiologist | |
Pancreatitis or pancreatic exocrine insufficiency
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