Issn Print: 0277-2116

Publication Date: 2004/06/01


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P0197 TWO JAPANESE PATIENTS WITH PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS DISPLAYING MUTATIONS IN THE BILE SALT EXPORT PUMP GENE

K. Goto; K. Sugiyama; T. Ando; F. Mizutani; K. Terabe; K. Ban; H. Togari

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Author Information: Department of Pediatrics, Neonatology and Congenital Disoders, Nagoya City University, Graduate School of Medical Sciences, Nagoya, Japan

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Introduction: In recent years, progressive familial intrahepatic cholestasis has been classified into at least three types by genetic analysis: PFIC1, PFIC2, and MDR3. Liver transplantation is effective in treating patients suffering from this intractable syndrome, but correct diagnosis is of paramount importance, as prognosis following transplantation differs with the genetic type of the disease
Methods: Synthesis of cDNA was accomplished using RNA extracted from liver tissue of two Japanese patients with progressive familial intrahepatic cholestasis. Polymerase chain reaction was performed using primer sets designed for amplification of the bile salt export pump cDNA. Direct sequencing was undertaken, and determined sequences were compared with the sequence for bile salt export pump gene registered with GenBank. In addition, gene sequences for non-progressive familial intrahepatic cholestasis patients were analyzed.
Results: Genetic analysis of case 1 revealed that substitutions in bile salt export pump protein sequences, namely R575X and E636G, might be the cause of the disease. In case 2, V330X and R487H might fulfill the same roles. Results for parents and control mechanisms of the gene supported these possibilities.
Conclusion: Absence or presence of bile salt export protein gene mutations was confirmed as representing an extremely useful prognostic marker for clinical course following liver transplantation.
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