https://scholars.lib.ntu.edu.tw/handle/123456789/475174
標題: | Homozygous SLC25A13 mutation in a Taiwanese patient with adult-onset citrullinemia complicated with steatosis and hepatocellular carcinoma | 作者: | Tsai C.-W. Chih-Chao Yang HUEY-LING CHEN WUH-LIANG HWU MU-ZON WU KAO-LANG LIU MING-SHIANG WU |
公開日期: | 2006 | 出版社: | Scientific Communications International Ltd | 卷: | 105 | 期: | 10 | 起(迄)頁: | 852-856 | 來源出版物: | Journal of the Formosan Medical Association | 摘要: | Citrullinemia is a metabolic disorder characterized by elevated plasma concentrations of citrulline and ammonia. Adult-onset citrullinemia (type II, CTLN2) has been attributed to citrin deficiency caused by mutations in the SLC25A13 gene. CTLN2 is associated with a high incidence of hepatocellular carcinoma (HCC) in Japanese. We report a 48-year-old Taiwanese man with citrullinemia, who was in good health until the age of 34 when he had repeated episodes of consciousness disturbance. Hyperammonia (201 μmol/L) was found during an episode of coma. Liver function and electrolyte levels were normal at that time. Serologic markers of viral hepatitis B and C were negative. Analysis of genomic DNA extracted from peripheral blood leukocytes showed homozygous 851de14 mutation in exon 9 of the SLC25A13 gene on chromosome 7q21.3. Fourteen years after disease onset, at the age of 48, he was admitted due to an episode of coma. Abdominal sonography and computed tomography showed a 2.5 cm tumor in the left lobe of the liver, without evidence of liver cirrhosis. Wedge resection of the tumor was performed and grade 2 HCC was diagnosed. The nontumor part of the resected. specimen showed chronic persistent hepatitis with moderate steatosis. The results in this case support that both citrin deficiency and steatohepatitis may contribute to hepatocarcinogenesis. ?2006 Elsevier & Formosan Medical Association. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-33750846867&doi=10.1016%2fS0929-6646%2809%2960274-6&partnerID=40&md5=4c734f0120338d9d0f4eaf61a9b189d3 https://scholars.lib.ntu.edu.tw/handle/123456789/475174 |
ISSN: | 0929-6646 | DOI: | 10.1016/S0929-6646(09)60274-6 | SDG/關鍵字: | gene product; genomic DNA; protein slc25a13; unclassified drug; abdominal radiography; adult; article; aspiration biopsy; cancer grading; case report; chromosome 7q; citrullinemia; clinical feature; coma; computer assisted tomography; DNA extraction; echography; electrolyte balance; exon; gene location; gene mutation; hemodialysis; hepatitis; homozygosity; human; human tissue; hyperammonemia; liver cell carcinoma; liver function; male; onset age; pathophysiology; postoperative period; steatosis; surgical technique; treatment response |
顯示於: | 醫學教育暨生醫倫理學科所 |
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