Establishment of genetic diagnosis and medical treatment in patients with inborn errors of bile acid metabolism: Aiming to prevent liver transplantation

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Inborn errors of bile acid metabolism (IEBAM) have symptoms of cholestasis in children and the prognosis is poor due to cirrhosis unless diagnosis is made and treatment is initiated at an early stage of cholestasis. It is important to diagnose and treat patients with IEBAM at an early stage of cholestasis because we can treat them with medical therapy if early. We diagnose patients with IEBAM by bile acid analysis using Gas Chromatography - Mass Spectrometry and genetic analysis using direct sequence. We diagnosed and have been treating 6 patients with IEBAM during this study period. We have been studying clinical course, liver function test, and bile acid analysis in all of them. Our study demonstrates that the early diagnosis and treatment in patients with IEBAS are useful because all of them have had good clinical course. We can treat the patients with IEBAS with oral chenodeoxycholic acid if we diagnose them at an early stage. It is necessary that pediatrician know IEBAM becuse IEBAM are very rare disease and the diagnosis need special examinations such as bile acid analysis and genetic analysis. Distinctive findings of IEBAM are normal serum concentration of γ-GTP and total bile acid; however children present with cholestasis. We presented this study at the meeting and congress associated with pediatric liver disease. Moreover, we reported this study as the articles in Japanese and English, and investigated the pathophysiology and treatment of IEBAM. Currently, we are writing a paper summarizing the study of IEBAM over the past few years.