α-galactosidase A 유전자 분석으로 확인된 Fabry 병

진범식 ( Bum Sik Chin ),김지인 ( Jee In Kim ),이진성 ( Jin Sung Lee ),홍순원 ( Soon Won Hong ),정현주 ( Hyun Joo Chung ),김희만 ( Hee Man Kim ),김동기 ( Dong Ki Kim ),구영석 ( Young Suck Goo ),이호영 ( Ho Yung Lee ) 대한신장학회 2002 Kidney Research and Clinical Practice Vol.21 No.6

Fabry disease is a X-linked lysosomal storage disorder caused by deficiency of α-galactosidase A. This abnormality in enzyme results intracellular accumulation of globotriaosylceramide and leads to severe painful neuropathy with progressive renal cardiovascular, and cerebrovascular dysfunction and early death. We report a 35 year-old man who had been suffered from acroparesthesia aggravated by body temperature elevation and with asymptomatic renal function impairment, which were proven to be due to Fabry disease. We performed gene analysis by PCR direct sequencing and confirmed missense mutation of GLA gene. Recently enzyme replacement of α-galactosidase was introduced and we think that the importance of early diagnosis and treatment should be emphasized.

항레트로바이러스 치료를 받는 한국인 HIV 감염자에서 당뇨병 발생 양상

최희경 ( Hee Kyoung Choi ),정수진 ( Su Jin Jeong ),이한성 ( Han Sung Lee ),진범식 ( Bum Sik Chin ),최석훈 ( Suk Hoon Choi ),한상훈 ( Sang Hoon Han ),김명수 ( Myung Soo Kim ),김창오 ( Chang Oh Kim ),최준용 ( Jun Yong Choi ),송영구 대한내과학회 2008 대한내과학회지 Vol.74 No.5

Background/Aims: The introduction of highly active antiretroviral therapy (HAART) has significantly modified the course of HIV infection. However, the HAART regimens, and especially those including protease inhibitors (PIs), have been shown to cause diabetes mellitus. We evaluated the incidence and clinical manifestations of HIV-infected Koreans who received HAART and the risk factors for diabetes mellitus in those patients. Methods: We conducted a retrospective cohort study and a case-control study to evaluate the clinical manifestations, the incidence and the risk factors for diabetes mellitus in 215 HIV-infected patients who were on HAART at Yonsei University College of Medicine from 1991 to 2006. Results: 215 patients were analyzed and the total duration of follow up was 1079 person-years. The incidences of diabetes mellitus and impaired fasting glucose were 1.39 case/100person-years and 6.02 case/100person-years. Most of the cases were non-obese type II diabetes and these patients showed insulin resistance and impaired β cell function. On the risk factor analysis, the factors contributing to the development of diabetes were age, a decrease of the viral load and indinavir use. Conclusions: In our study, the incidence of diabetes among Korean HIV-positive patients on HAART was 1.39case/100person-years. Age, a decrease of the viral load and indinavir use were the risk factors for development of diabetes mellitus.(Korean J Med 74:506-514, 2008)

HIV 감염인에서 발생한 순차적 림프종

정유나 ( Yu Na Jung ),이재령 ( Jae Ryeong Lee ),이희숙 ( Hee Sook Lee ),진범식 ( Bum Sik Jin ),서창인 ( Chang In Seo ),신형식 ( Hyoung Shik Shin ),정은정 ( Eun Jung Jung ) 대한내과학회 2015 대한내과학회지 Vol.88 No.4

Rarely, two different histological types of lymphoma develop in the same person. Sequential lymphoma is defined as two different types of lymphoma occurring in the same person sequentially. A 47-year-old patient with human immunodeficiency virus (HIV) infection who had been diagnosed with mixed cellularity Hodgkin`s lymphoma was treated with adriamycin, bleomycin, vinblastine, and dacarbazine combination chemotherapy. After six cycles of chemotherapy, abdominal computed tomography showed multiple liver masses. A percutaneous needle biopsy of the liver and polymerase chain reaction single-strand conformation polymorphism revealed hepatosplenic T-cell lymphoma. The patient died 3 months after the diagnosis of hepatosplenic T-cell lymphoma. To our knowledge, this is the first case of the sequential development of hepatosplenic T-cell lymphoma after Hodgkin`s lymphoma in a Korean HIV-infected patient.

Utility of QuantiFERON-TB In-Tube Test for Differentiating Active Tuberculosis from Latent Tuberculosis Infection in an Intermediate Burden Country

Choi, Suk Hoon,Chin, Bum Sik,Han, Sang Hoon,Lee, Han Sung,Kim, Chang Oh,Jeong, Su Jin,Choi, Hee Kyung,Kim, Myung Soo,Choi, Jun Yong,Song, Young Goo,Kim, June Myung 대한감염학회 2008 감염과 화학요법 Vol.40 No.6

Background : The aim of the present study was to assess the contribution of a QuantiFERON-TB Gold In-Tube test (QFT-IT) in differentiating active tuberculosis (TB) from latent tuberculosis infection (LTBI) by quantifying interferon-r levels. Materials and Methods : We retrospectively reviewed clinical records of 314 patients older than 15 years who had performed QFT-IT between July 2006 and August 2007 at a tertiary care teaching hospital. Results : Subjects with active TB (n=81, culture confirmed active TB in 40 subjects) and LTBI (n=76) were included. Mean±SD IFN-r levels were 4.961±3.98 lU/mL (range -0.08-10) for all subjects with active TB, 4.54±4.05 lU/mL (range -0.08-10) for culture confirmed active TB, and 4.11±3.57 lU/mL (range 0.35-10) for subjects with LTBI. The quantitative results of QFT-IT on IFN-7 levels between all the subjects with active TB and those with LTBI were not statistically significant (P=0.16). The result was similar when compared between those with culture confirmed active TB and those with LTBI, showing little statistical significance (P=0.554). Conclusion : The production of IFN-7 measured by QFT-IT showed no correlation between its level and the activity of Mycobacterium tuberculosis infection. These results suggest that measuring IFN-r using QFT-IT might not be useful for distinguishing active TB from LTBI.

구강암 환자에서 수술 후 발생한 Agrobacterium radiobacter 패혈증 1예

정수진,최희경,이혜원,신상훈,김창기,이한성,진범식,최석훈,한상훈,김명수,김창오,최준용,송영구,김준명 대한감염학회 2007 감염과 화학요법 Vol.39 No.5

저자들은 체내 이물질 삽입 병력이 없는 구강암 환자에서 종물 제거 수술 후 발생한 Agrobacterium radiobacter 패혈증을 fluoroquinolone계 항생제로 치료한 1예를 경험하였기에 문헌고찰과 함께 보고하는 바이다. Agrobacterium is an aerobic, motile, oxidase-positive, and non-spore-forming gram-negative bacillus. Under laboratory conditions, Agrobacterium can genetically transform a wide range of other eukaryotic species. A plant-pathogenic soil inhabitant, Agrobacterium radiobacter is not characterized as a true human pathogen. It is an opportunistic pathogen of minor clinical significance and has been substantiated as a rare cause of bacteremia, endocarditis, urinary tract infection and peritonitis mostly in catheterized immunocompromised patients. The authors report a case of a 41-year-old female patient with sepsis caused by A. radiobacter bacteremia following wide excisional biopsy of adenoid-cystic carcinoma involving oral cavity. She was suffering from fever and chilling that developed on second post-operation day. Blood cultures yielded a gram-negative bacillus identified as A. radiobacter. She completely recovered with appropriate antibiotics treatment; levofloxacin and isepamicin. We experienced a case of sepsis due to A. radiobacter bacteremia without indwelling foreign body, which was treated successfully with antibiotics therapy.

베체트병 환자에서 발생한 주폐포자충 폐렴 1예

정지영,최석훈,박윤선,진범식,한상훈,허규연,심완섭,이재혁,정상윤,최한석,최준용,박윤수,조정호,장경희,송영구,이광훈,김준명 대한감염학회 2003 감염과 화학요법 Vol.35 No.5

저자들은 면역 억제 치료를 받은 베체트 증후군 환자에서 발생된 주폐포자층 폐렴을 기관지 폐포 세축술 및 경기관지 폐생검을 통해 진단하고 치료한 1예를 경험하였기에 문헌 고찰과 함께 보고하는 바이다. Pneumocystis carinii pneumonia (PCP) is one of the most common causes of infection in patients with HIV infection. With the development of effective prophylactic agent, the incidence of PCP in patients with HIV infection has been declining. On the other hand, however, the incidence of PCP has been increasing in immunocompromised hosts without HIV infection, such as rheumatoid arthritis, bone marrow transplantaion and Behcet syndrome. The increased occurrence of PCP in non-HIV-infected subjects has been attributed to several factors, such as use of stronger immunosuppressive regimens, higher awareness of PCP, advanced diagnostic technology and nosocomial spread of P. carinii. The occurrence of PCP in patients who receive immunosuppressive drugs for autoimmune disease has not been well known in Korea. We report a patient with Behcet syndrome who suffered from PCP after immunosuppressive drugs.

Efficacy of the Arbekacin and Teicoplanin Combination on Glycopeptide Intermediate Staphylococcus aureus in a Rabbit Model of Endocarditis

Cho, Cheong Ho,Choi, Jun Yong,Han, Sang Hoon,Lee, Han Sung,Choi, Suk Hoon,Chin, Bum Sik,Choi, Hee Kyoung,Jeoung, Su Jin,Kim, Myung Soo,Kim, Chang Oh,Kim, Chang Ki,Yong, Dongeun,Song, Young Goo,Lee, Ky 대한감염학회 2008 감염과 화학요법 Vol.40 No.2

목적 : 동물 모델을 이용하여 GISA에 의한 심내막염에서 teicoplain과 arbekacin 병용 요법의 치료 효과를 알아보고자 하였다. 재료 및 방법 : 토끼 심내막염 모델을 이용하여 GISA 에 의한 심내막염에서 teicoplanin과 arbekacin 병용 요법의 효과를 단독 요법의 효과와 비교하였다. GISA 균주는 Mu50 균주를 사용하였고, 기존 문헌과 동일한 방법으로 토끼를 이용하여 동맥판 심내막염 모델을 사용하였다. 항생제 치료는 균을 주사한지 20시간 이후에 시작하였다. Teicoplanin은 40 mg/kg를 1회 근육 주사한 후에 20 mg/kg의 용량을 12시간 마다 4일간 투여하였다. Arbekadn은 5 mg/kg를 12시간 마다 4일간 근육 주사하였다. 마지막 항균제 투여 20시간 이후에 토끼 대동맥판의 증식(vegetation)을 채취하였다. 항균제를 투여하지 않은 대조군, teicoplanin 단독 치료군, arbekacin 단독 치료군, teicoplanin과 arbekacin 병용치료 군간의 증식의 무게(gram) 당 log_10)CFU의 차이를 비교하였다. 결과 : Teicoulanin과 arbekacin 병용 치료군에서 teicoplanin단독 치료군, 혹은 arbekacin 단독 치료군에 비해 증식의 무게(gram)당 log_10)CFU 값이 유의하게 낮았다(P<0.05). 결론 : 동물 모델에서 GISA에 의한 심내막염에 대한 teicoplanin과 arbekacin 병용 치료의 효과가 teicoplanin이나 arbekacin 단독 치료에 비해 우월하였다. Background : There have been no reports to evaluate the usefulness of combination therapy with glycopeptide and arbekacin in endocarditis by in vivo model. Materials and Methods : We investigated the efficacy of the arbekacin and teicoplanin combination on glycopeptide intermediate Staphylococcus aureus (GISA) in rabbit model of endocardits. GISA Mu50 strain was used for the experiment. The rabbit model of aortic valve endocarditis as described previously was used. Treatment was started 20h later inoculation with teicoplanin alone (at 20 mg/kg of body weight intramuscularly every 12 hours for 4 days after loading dose of 40 mg/kg of body weight intramuscularly), arbekacin alone (5 mg/kg of body weight intramuscularly every 12h for 4 days), or teicoplanin plus arbekacin. Results : The results of therapy for experimental endocarditis due to Mu50 showed that teicoplanin and arbekacin combination was more effective than the administration of both drugs alone in reducing the log_10)CFU/g of aortic vegetation (P<0.05). Conclusion : The combination of teicoplanin and arbekacin was more effective against GISA (Mu50) than both drugs alone in vivo endocarditis model.

골수염으로 발현된 재발성 콕시디오이데스 진균증 1예

백지현,박은영,정윤숙,홍재원,채윤태,진성준,최희경,신소연,한상훈,진범식,김창오,최준용,송영구,조남훈,김준명 대한감염학회 2009 감염과 화학요법 Vol.41 No.4

Coccidioidomycosis is a fungal infection that results from inhaling the airborne arthroconidia of the Coccidioides species. It is an endemic disease in the southwest part of North America and rarely diagnosed in Korea. As tourism to endemic areas and the number of immunocompromised patients have been increasing, the incidence of this infection has increased in non-endemic areas. Treatment is usually successful with antifungal agents; however, recurrence is common. It is difficult to decide when to discontinue the antifungal treatment especially in non-endemic areas where doctors are not familiar with the disease. We report a case of recurrent coccidioidomycosis manifesting as osteomyelitis after the treatment of the patient for disseminated coccidioidal infection. The complement fixation test was a useful tool for the assessment of patient response and to evaluate suspected recurrence.