Sangorrin Iranzo A, Iriondo Sanz M, Alvarez García L, Jara Vega P, Martín de Carpi J
Servicio de Neonatología, Hospital Sant Joan de Déu, Barcelona, España.
An Pediatr (Barc). 2009 Dec;71(6):510-3. doi: 10.1016/j.anpedi.2009.08.005. Epub 2009 Oct 7.
Progressive familial intrahepatic cholestasis (PFIC) is a heterogeneous group of autosomic-recessive inherited cholestatic disorders that begin in the neonatal period or in the first years of life. There are three types of PFIC defined by different mutations located in the gene responsible for the bile flow through the intrahepatic canalicular transporter system. These disorders usually present in children or young adults and the main clinical manifestations are cholestasis, jaundice and pruritus, and they progress slowly towards liver fibrosis in adult life. PFIC diagnosis is based on clinical suspicion, biochemical findings (that include normal gamma-glutamyl transpeptidase in type 1 and 2, but increased levels in type 3), image techniques that rule-out other disorders, and histological confirmation. Initial treatment consists of symptomatic relief of cholestatic symptoms with choleretic agents (urso-deoxycholic acid). Partial biliary derivation and ileal bypass are intermediate therapeutic options. In case of no response to these treatments, liver transplantation is indicated. We report the case of a neonate with PFIC type 2 presenting as a liver failure.
进行性家族性肝内胆汁淤积症（PFIC）是一组常染色体隐性遗传性胆汁淤积性疾病，始于新生儿期或生命的最初几年。根据负责肝内胆小管转运系统胆汁流动的基因中不同的突变，可将PFIC分为三种类型。这些疾病通常在儿童或年轻人中出现，主要临床表现为胆汁淤积、黄疸和瘙痒，在成年期会缓慢发展为肝纤维化。PFIC的诊断基于临床怀疑、生化检查结果（1型和2型中γ-谷氨酰转肽酶正常，但3型水平升高）、排除其他疾病的影像技术以及组织学确诊。初始治疗包括使用利胆剂（熊去氧胆酸）对症缓解胆汁淤积症状。部分胆汁转流和回肠旁路是中间治疗选择。如果对这些治疗无反应，则需进行肝移植。我们报告了一例表现为肝衰竭的2型PFIC新生儿病例。
