Progressive familial intrahepatic cholestasis (Byler's disease) ; an autosomal-recessive disorder caused by an error in conjugated bile salt metabolism, with early onset of loose, foul-smelling stools; jaundice; hepatosplenomegaly; and dwarfism.
The onset of the disease is usually before age 2, but patients have been diagnosed with PFIC even into adolescence.
Initial treatment is supportive, with the use of agents to treat cholestasis and pruritus, including the following:
When liver synthetic dysfunction is significant, patients should be listed for transplantation. Family members should be tested for PFIC mutations, in order to determine risk of transmission.
source: http://medical-dictionary.thefreedictionary.com/Byler's+disease
and http://en.wikipedia.org/wiki/Progressive_familial_intrahepatic_cholestasis
- Ursodeoxycholic acid
- Cholestyramine
- Rifampin
- Naloxone, in refractory cases
When liver synthetic dysfunction is significant, patients should be listed for transplantation. Family members should be tested for PFIC mutations, in order to determine risk of transmission.
source: http://medical-dictionary.thefreedictionary.com/Byler's+disease
and http://en.wikipedia.org/wiki/Progressive_familial_intrahepatic_cholestasis
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