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정숙향,안수민,최종기 연세대학교의과대학 2023 Yonsei medical journal Vol.64 No.12
Progressive familial intrahepatic cholestasis (PFIC) is a group of rare genetic disorders caused by defects in biliary epithelial trans porters. It mostly presents as low γ-glutamyltransferase cholestasis. Recently, USP53 has been identified as one of the novel genes associated with PFIC. Herein, we report a 21-year-old Korean male patient with a late-onset PFIC. Initial work-up, including whole genome sequencing, did not find any associated gene. However, reviewing sequencing data identified novel compound heterozy gous variants in splicing site of USP53 (NM_001371395.1:c.972+3_972+6del, and c.973-1G>A). The patient’s bilirubin level fluctuat ed during the disease course. At 4.5 years after the initial presentation, the patient’s symptom and high bilirubin level were normal ized after administration of high-dose ursodeoxycholic acid. Recognition of this disease entity is important for prompt diagnosis and management. USP53 is recommended for the work-up of low γ-glutamyltransferase cholestasis.
정숙향 대한의사협회 2015 대한의사협회지 Vol.58 No.12
The successful development of direct-acting antivirals (DAA) represents a breakthrough in the treatment of hepatitis C virus (HCV) infection. Pegylated interferon alpha and ribavirin combination therapy for 24-48 weeks was a longstanding standard therapy despite high rate of adverse events and relatively low efficacy, with a sustained virological response (SVR) rate of 60% in genotype 1 and 80% in genotype 2 HCV infected patients in South Korea. However, the treatment paradigm is rapidly shifting from interferon-based therapy to interferon-free, all-oral DAA combination therapy, which leads to SVR rates of 90% with minimal adverse events and a shorter duration of treatment (12-24 weeks). Quantitation of serum HCV RNA and genotyping of HCV are essential tests for treatment with DAA agents, and genotype 1b and genotype 2 are the two most common genotypes in Korea. The first DAA treatment approved in 2015 was daclatasvir and asunaprevir combination therapy for 24 weeks, which carries an expected SVR rate of 80-90%. It is indicated for genotype 1b patients in whom resistance-associated mutation is not detected in the NS5A region of the HCV genome (L31 or Y93 codon). The next treatment approved was the ledipasvir/sofosbuvir fixed dose combination for genotype 1 patients, with an expected SVR rate of 90%–99% using the 12–24 week regimen. For genotype 2 infection, sofosbuvir and ribavirin combination for 12–16 weeks is recommended, with an expected SVR rate of 95%. However, the high cost of DAA therapy, drug-drug interactions, and the development of resistance-associated mutants remain as problems to overcome.
Current Status of Hepatitis E Virus Infection in Korea
정숙향 거트앤리버 소화기연관학회협의회 2011 Gut and Liver Vol.5 No.4
Hepatitis E virus (HEV) is an emerging pathogen associated with acute viral hepatitis, and HEV is becoming increasingly recognized. Approximately 2% of acute viral hepatitis is caused by HEV, and 18 cases of hepatitis E have been reported in Korea. Of these cases, only two have involved a history of travel from India, which suggests that they were imported cases. The remaining reported cases include a sporadic case of acute hepatitis E with genotype 4 HEV isolates and identifi cation of the full genome sequence, as well as another case of genotype 4 HEV hepatitis that developed after ingestion of the raw bile juice of a wild bear living on a mountain in southern Korea. Moreover, genotype 3 HEV,which shows close genetic homology with swine HEV in Korea,has been detected in collected human serum samples. Therefore, genotypes 3 and 4 HEV are currently circulating in the Korean community and may be related to zoonotic transmission and food-borne infection. The reported anti-HEV seroprevalence of 17% to 27% in the Korean population suggests that HEV infection has been autochthonously circulating, thereby resulting in subclinical infection in Korea. Given the discrepancies among anti-HEV assays, the diagnosis of hepatitis E should be made with caution using adequate antibody assays, and HEV RNA should be preferably detected from the stool. Further virological characterization and epidemiological study of the virus are warranted.