Hepatocellular carcinoma in a case of adult-onset type II citrullinemia.
A 40-year-old woman was admitted with altered consciousness and hyperammonemia after she had delivered her first baby. DNA analysis of the citrin gene and enzymatic assay of argininosuccinate synthetase in the liver led to a diagnosis of adult-onset type II citrullinemia (CTLN2). She was also found to have hepatocellular carcinoma (HCC) and underwent palliative surgery consisting of partial liver section of the HCC. Delivery may be a trigger for the development of CTLN2, while certain pathologic conditions associated with citrin gene abnormality are likely to induce hepatocellular carcinoma in patients with this disorder.
Hagiwara
Naoki
N
Third Department of Medicine, Shinshu University School of Medicine, Matsumoto.
Sekijima
Yoshiki
Y
Takei
Yo-ichi
Y
Ikeda
Shu-ichi
S
Kawasaki
Seiji
S
Kobayashi
Keiko
K
Saheki
Takeyori
T
D000328:Adult; D002135:Calcium-Binding Proteins / Q000235:genetics; D006528:Carcinoma, Hepatocellular / Q000150:complications / Q000601:surgery*; D020159:Citrullinemia / Q000150:complications* / Q000235:genetics; D005260:Female; D006498:Hepatectomy / Q000379:methods; D006801:Humans; D008113:Liver Neoplasms / Q000150:complications / Q000601:surgery*; D027361:Organic Anion Transporters / Q000235:genetics; D011644:Puerperal Disorders / Q000150:complications* / Q000235:genetics
D002135:Calcium-Binding Proteins; D027361:Organic Anion Transporters; C008822:citrin