familial hypercholanaemia

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familial hypercholanaemia

A disorder (OMIM:607748) characterised by elevated serum bile acid concentrations, pruritus, and fat malabsorption.

Molecular pathology
Caused by defects of
• TJP2, which encodes tight junction protein 2;
• BAAT, which encodes an enzyme involved in bile acid-amino acid conjugate formation; and
• EPHX1, which encodes epoxide hydrolase-1, a biotransformation enzyme.
References in periodicals archive ?
Se concluyo que solamente los SHEA redujeron la mortalidad en los casos de FHCA, mientras que, en terminos globales, no hubo diferencias en la mortalidad cuando se evaluo su utilidad en FHA.
Nuevamente, el mayor efecto notado sobre la disminucion en la mortalidad fue para el grupo de FHCA, pero no fue significativo en los grupos de FHA.
Sin duda, la creciente incidencia de FHA, FHF y FHCA, sumada a la pobre oferta de donacion de organos, impulsara este tipo de terapias de soporte.
FHCA is a federation of long-term care providers dedicated to providing the highest quality care for elderly, chronically ill, and disabled individuals.
According to the FHCA, Aegis earned the award because of its active role in assisting the Association with advocating on behalf of long-term care during this past year's Florida Legislative Session.
We are all partners in taking care of Florida's elderly," said Bill Phelan, FHCA president.