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遗传代谢病可通过影响胆红素代谢而引起高未结合胆红素血症或高结合胆红素血症,并出现黄疸;其中引起高未结合胆红素血症的病因主要包括尿苷二磷酸-葡萄糖醛酸转移酶活性部分或完全缺乏和红细胞代谢缺陷等;高结合胆红素血症的病因主要包括胆汁酸及糖、氨基酸、脂类、金属等物质代谢异常。不同类型黄疸的发病机制和预后各不相同,早期诊断和积极治疗有助于改善预后。现介绍儿童主要的遗传代谢性高胆红素血症及其诊断、治疗。
Genetic metabolic diseases can be caused by the impact of bilirubin metabolism caused by high unbound bilirubin or hyperbilirubinemia and jaundice; the cause of high unbound bilirubin mainly include uridine two Partial or complete phosphoric acid-glucuronosyltransferase activity and metabolic defects such as red blood cells; highly conjugated bilirubin etiology include bile acids and sugar, amino acids, lipids, metals and other substances abnormal metabolism. Different types of jaundice pathogenesis and prognosis are different, early diagnosis and aggressive treatment can help improve the prognosis. Are introduced to children’s major genetic metabolic hyperbilirubinemia and its diagnosis and treatment.