title: Congenital absence of the portal vein and role of liver transplantation in children.
abstract: OBJECTIVE
  Congenital absence of the portal vein (CAPV) is a subtype of congenital portosystemic shunt, which can cause a broad spectrum of clinical manifestations. The authors report on 4 patients with CAPV including a boy with CAPV-associated encephalopathy, which was resolved effectively by liver transplantation (LT).
  
  
  METHODS
  The case records of 4 pediatric patients with CAPV who were referred to the author's institution between 1984 and 1999 were reviewed.
  
  
  RESULTS
  The patients (3 boys and 1 girl) ranged in age at diagnosis from 0.8 to 14 years. Two patients had growth retardation or disturbed consciousness, and the other 2 had no specific manifestations. Not only high serum levels of bile acids, ammonia, and transaminases but also low plasma levels of branched-chain amino acids were common laboratory findings. The absent portal vein was replaced by a large portosystemic shunt, which connected the splanchnic vein to the inferior vena cava or the left renal vein. Two patients survived without any symptoms, but 1 with growth retardation died of hepatic failure. The other with encephalopathy did not respond to medical therapy and underwent LT, which resolved symptoms and metabolic disorders effectively.
  
  
  CONCLUSIONS
  Patients with CAPV do not always have a good prognosis. They should be followed up with careful observation of their symptoms, hepatic function, and metabolic abnormalities. LT might be indicated for patients with symptomatic CAPV unresponsive to medical therapy.
authors: Department of Surgery, Kanagawa Children's Medical Center, Yokohama, Japan.
authors: M
authors: M
authors: Shinkai
authors: Y
authors: Y
authors: Ohhama
authors: T
authors: T
authors: Nishi
authors: H
authors: H
authors: Yamamoto
authors: S
authors: S
authors: Fujita
authors: H
authors: H
authors: Take
authors: M
authors: M
authors: Adachi
authors: K
authors: K
authors: Tachibana
authors: N
authors: N
authors: Aida
authors: K
authors: K
authors: Kato
authors: Y
authors: Y
authors: Tanaka
authors: S
authors: S
authors: Takemiya
mesh_terms: D000293:Adolescent; D000641:Ammonia / Q000097:blood; D001928:Brain Diseases, Metabolic / Q000175:diagnosis / Q000209:etiology; D005260:Female; D005690:Galactose / Q000097:blood; D006801:Humans; D007223:Infant; D016031:Liver Transplantation; D008297:Male; D011169:Portal Vein / Q000002:abnormalities*; D013152:Splanchnic Circulation
chemical_list: D000641:Ammonia; D005690:Galactose