Arch Argent Pediatr. 2020 Feb;118(1):S12-S49. doi: 10.5546/aap.2020.S12.
Neonatal jaundice may be due to different causes, ranging from physiological conditions to severe diseases. In term neonates with persistent jaundice beyond 14 days of life, it should be determined whether hyperbilirubinemia is unconjugated or conjugated, in order to study the etiology and start early treatment. In the majority of cases, conjugated hyperbilirubinemia (cholestasis) is a sign of liver dysfunction possibly associated with alterations in the bile flow secondary to structural or molecular abnormalities of the liver and/or the biliary tract. Over the past decade, new molecular studies have revolutionized the approach of cholestatic patients, leading to the identification of different genetic entities. It is important to determine the etilogy of neonatal hyperbilirubinemia since in many cases early treatment will substantially improve morbidity and mortality.
新生儿黄疸可能由不同原因引起,从生理状况到严重疾病不等。对于足月儿,若出生14天后仍持续黄疸,应确定高胆红素血症是未结合型还是结合型,以便研究病因并尽早开始治疗。在大多数情况下,结合型高胆红素血症(胆汁淤积)是肝功能障碍的迹象,可能与肝脏和/或胆道结构或分子异常继发的胆汁流动改变有关。在过去十年中,新的分子研究彻底改变了胆汁淤积患者的治疗方法,导致发现了不同的遗传实体。确定新生儿高胆红素血症的病因很重要,因为在许多情况下,早期治疗将显著改善发病率和死亡率。