Description

Byler's Disease was first described in an Amish kindred with intrahepatic cholestasis. It is associated with defective primary bile acid secretion.


Inheritance: autosomal recessive

 

Chromosomal location: 18q21-q22

 

Clinical features:

(1) intrahepatic cholestasis starting during infancy

(2) progression to hepatic fibrosis and cirrhosis

(3) watery diarrhea

(4) recurrent infections

(5) variable raised sweat electrolytes

(6) severe pruritis

(7) elevated serum concentrations of bile acids

 

Byler's Disease refers to patients who are members of the Amish kindred initially described.

Byler's Syndrome refers to patients who are not members of the Amish kindred

 

In Byler's Disease transmission electron microscopy shows coarsely granular bile ("Byler bile").

 

Complications:

(1) sensorineural hearing loss

(2) variable pancreatitis after liver transplantation

(3) acute cholecystitis


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