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

先天性胆汁酸代谢缺陷（IEBAM）在儿童中有胆汁淤积的症状，除非在胆汁淤积的早期阶段进行诊断和治疗，否则由于肝硬化，预后很差。在胆汁淤积的早期阶段诊断和治疗IEBAM患者是很重要的，因为如果早期，我们可以用药物治疗。我们通过使用气相色谱-质谱法的胆汁酸分析和使用直接测序的遗传分析来诊断IEBAM患者。在本研究期间，我们诊断并治疗了6例IEBAM患者。我们一直在研究他们的临床过程中，肝功能检查和胆汁酸分析。我们的研究表明，IEBAS患者的早期诊断和治疗是有益的，因为他们都有良好的临床过程。我们可以治疗IEBAS患者口服鹅去氧胆酸，如果我们诊断他们在早期阶段。由于IEBAM是一种非常罕见的疾病，诊断需要特殊的检查，如胆汁酸分析和基因分析，因此儿科医生了解IEBAM是必要的。IEBAM的独特发现是正常的血清γ-GTP和总胆汁酸浓度;然而，儿童存在胆汁淤积。我们在与儿科肝病相关的会议和大会上介绍了这项研究。此外，我们以日文和英文报道了这项研究，并探讨了IEBAM的病理生理学和治疗。目前，我们正在撰写一篇论文，总结过去几年来IEBAM的研究。

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.