Citrin缺陷导致的新生儿肝内胆汁淤积症

Neonatal intrahepatic cholestasis caused by Citrin deficiency

Citrin缺陷导致的新生儿肝内胆汁淤积症（NICCD）是由Citrin缺陷引起的，为常染色体隐性遗传病。最先报道于日本，东亚地区高发，我国南方地区发病率明显高于北方地区。多数NICCD患儿预后良好，但仍有少数患儿出现肝衰竭，甚至死亡。早期诊断、定期随访和适当的治疗有望改善预后，避免严重后果发生。

Neonatal intrahepatic cholestasis caused by Citrin deficiency （NICCD） is one of phenotypes of Citrin deficiency. It＇s an autosomal recessive disorder which was mainly seen in East Asia, including China. Case of NICCD was reported firstly by Japanese in 2001. In south area of China,the morbidity of NICCD is higher than that in north area of China. Most of the patients with NICCD has benign prognosis. Symptoms resolve within the first year of life, thus making a diagnosis difficult after this time. But few of patients will develop liver failure, even be fatal to life. Early diag- nosis, regular follow-up and proper management may improve the prognosis.