갈락토오스혈증 선별검사 양성인 신생아에 대한 정밀검사 결과 분석

최태윤,윤혜란 덕성여자대학교 약학연구소 2010 藥學論文誌 Vol.21 No.-

Background & object : Generally, blood spots of newborn have been sent to the 2n d institution for differential confirmatory test, who showed positive through newborn screening for galactosemia. So far no report on the investigative analyses on confirmatory test results of positive Galactosemia results of newborn blood spots, who have been born in General Hospital. We have investigated the proportion of blood spotsamples that gave positive screen results of newborn blood spots born in Soonchynhyang University Hospital. Methods: We investigated and analyzed through examining medical records of newborns who were born or transferred in Soonchunhyang University Hospital in 2009. Newborn born blood spots obtained were from what was transferred to our Hospital for confirmatory tests or from what was visited to our Hospital for the total galactose, free galactose, galactose-1-phosphate, and Beutler tests. Results : Out of 252 newborns who received secondary confirmatory tests, the newborn blood spots who showed abnormal was as follows; 66 (26.2%) for total galactose, 10 (4.0%) for free galactose, 32 (12.7%) for galactose-1-phosphate and, 0 for Beutler tests. Among 96 newborns who have seen attending physician 18 (19.1 %) showed abnormal, and finally 5 (2.0%) was diagnosed as Galactosemia and 15 was transient Galactosemia. Out of 18 newborns who have been transferred to secondary confirmatory test 3 have been diagnosed as Galactosemia. Finally five (2.0%) was diagnosed as Galac tosemia out of 252 born at Soonchunhyang University Hospital in 2009. From these results we expect there might be more than 7 newborns with Galactosemia, though 7 Galactosemia newborn patients have already been registered at community health center. Conclusions : For the prevention of mental retardation and effective therapy over Galactosemia, secondary confirmatory test ought to be performed right away if the result of newborn screening for Galactosemia is positive. 갈락토오스혈증은 갈락토오스 분해효소의 결핍으로 인하여 섭취한 갈락토오스를 우리 몸에서 에너지 원으로 이용되는 포도당으로 바꾸지 못하여 체내에 갈락토오스가 축적되는 유전성 질환으로 신생아 시기에 치료하지 않으면 발육부전 및 정신지체가 발생 하고 심한 경우 사망하기도 한다. 신생아 때 발견하여 치료하면 정신지체를 예방할 수 있는 유전성 대사질환에 대한 신생아 선별검사가 1985년 국내에 처음 도입된 이후 갈락토오스혈증에 대한 신생아 선별검사가 2006년부터 정부 지원사업으로 채택되어 모든 신생아를 대상으로 무료로 실시되고 있다. 갈락토오스혈증에 대한 선생아 선별검사가 시작된 이후 양성자들에 대한 확인검사를 통하여 갈락토오스혈증 환자가 진단되고 있지만 아직까지 우리나라에서의 발생빈도는 정확히 알 수 없다. 신생아 선별검사에서 갈락토오스혈중 양성인 신생아들은 확인검사 기관에서 정밀검사를 받지만 검밀검사에서 진단된 환아가 얼마나 되는지 정확히 알 수 없고, 진단된 환아 중 몇 명이 보건소에 동록되는지 알 수 없다. 확인검사를 통하여 진단된 환아 중 보건소에 사후관리자로 등록된 환자를 근거로 산출한 2006부터 2009년까지 4년간 갈락토오스혈증의 발생빈도는 51,419명당 1 명이다. 최태윤 등은 2005년도 신생아 선별검사결과를 근거로 산출한 갈락토오스혈증 발생 빈도가 39,314명당 1명으로 보고하였다. 저자들은 갈락토오스혈증에 대한 신생아 선별검사에서 양성인 신생아 중 확인검사를 받기 위하여 정밀검사 기관으로 내원한 신생아들 대상으로 확인검사 결과를 실시하고 그 결과를 분석하여 보고하는 바이다.

중증근무력증 환자에서의 혈장교환 요법 경험 2예

최태윤,김원배,이동화,강득용 대한임상병리학회 1987 대한임상병리학회지 Vol.7 No.2

김밥에 의한 Salmonella enteritidis 집단 식중독

최태윤 대한감염학회 1995 감염 Vol.27 No.3

목적:1994년 9월 구미 공단내의 한 회사에서 야간 근로자들이 야식을 먹고 집단 식중독이 발생하여 역학조사와 함께 원인을 규명하였다. 방법:식중독의 원인균과 감염원을 규명하기 위하여 환자의 대변과 음식물을 수거하여 배양검사를 실시하였으며, 환자의 의무기록지를 분석하였다. 결과 1) 발병 환자는 총 79명으로 남자 14명, 여자 65명이었다. 2) 발병기간은 음식을 먹은 후 12시간 이내가 19명(24%), 12-24시간이 52명(66%), 24-48시간이 8명(10%)이었다. 3) 수반된 증상은 복통(91%), 물설사(86%), 발열 및 오한(75%), 구역 및 구토(68%), 두통(51%) 등이었다. 4) 평균 백혈구수는 10,770/㎕(4,600-18,700/㎕)으로 5,000/㎕ 미만이 2%, 5,000-10,000/㎕가 45%, 10,000-15,000/㎕가 43%, 15,000/㎕ 이상이 10%이었으며, 환자의 86%에서 중성구가 80% 이상이었다. 5) 대변배양검사를 실시한 35명중 34명에서 S. enteritidis가 분리되었다. 6) 음식물에 대한 배양검사에서 김밥에서 S. enteritidis가 분리되었다. 7) 대부분의 환자는 수액요법과 약처방으로 당일 퇴원하였고, 12명(15%)은 입원치료후 퇴원하였다. 결론:한 회사내에서 발생한 집단 식중독의 원인을 규명한 결과 S. enteritidis에 오염된 김밥으로 인하여 79명의 환자가 발생하였다 산업장에서 집단 식중독이 발생하면 노동력이 저하되므로 집단급식을 하는 곳에서는 식품 위생을 철저히 지켜야 하며, 비장티푸스성 Salmonella 감염증도 법정 전염병으로 정하여 국가에서 관리해야 할 것으로 사료되는 바이다. Background: On September 1994, an outbreak of food poisoning occurred among employees of a factory in Kumi. Patients were visited in Soonchunhyang Kumi hospital. This report contains results of an epidemiological investigation of the outbreak. Methods: Stool culture was performed in 35 of 79 patients with food poisoning and the foods, which patients had eaten, were cultured. The medical records of 79 patients with food poisoning were reviewed retrospectively. Results: 1) 79 patients(male 14, female 65) were visited in the hospital. 2) The incubation period was less than 12 hours in 24%, 12-24 hours in 66%, and 24-48 hours in 10%. 3) Predominant symptoms were abdominal pain(91%), watery diarrhea(86%), fever/chilling(75%), nausea/vomiting(68%) and headache(51%). 4) Mean leukocyte count was 10,770/㎕(4,600-18,700/㎕). 5) Salmonella enteritidis was isolated from stool in 34 of 35 patients who submitted specimens. 6) Salmonella enteritidis was isolated from the seaweed roll which patients had eaten. 7) On the visited day, 67 ill patients were discharged after intravenous rehydration and oral medication; twelve were hospitalized. Conclusion: An outbreak of Salmonella enteritidis infection associated with food occurred among employees of a factory in Kumi on September 1994. 79 patients were affected. Good hygiene of the cooking personnel and adequate cooking of foods are necessary in controlling such outbreaks of nontyphoidal salmonellosis among factory workers.

ACD저장 적혈구의 보존상태 지표로서 Morphology Score의 유용성에 관한 연구

최태윤,김원배,강득용,오영철,조명준 大韓血液學會 1988 大韓血液學會誌 Vol.23 No.1

HIV 감염의 신속 선별검사로서 OraQuick Advance Rapid HIV-1/2 항체검사의 평가

최태윤,김태형,신정원,박노진,서영익 대한임상미생물학회 2009 Annals of clinical microbiology Vol.12 No.3

Background: For the diagnosis of HIV infection, enzyme immunoassay (EIA) or chemiluminescence immunoassay (CLIA) is commonly used as a screening test. Although these methods have a high sensitivity and low cost, their high false positive rate can cause confusion in the patients and clinicians until a more specific test is done. OraQuick Advance Rapid HIV-1/2 Antibody Test (OraQuick) (OraSure Technologies, USA) is a rapid test that can detect HIV-1/2 antibodies in 20 minutes. It uses oral fluid, whole blood or serum sample. In this study, we evaluated the usefulness of the OraQuick as a screening and point-of-care test for HIV infection. Methods: From Jan 2007 to Dec 2008, 45,276 samples referred to our laboratory were tested by CLIA method using the ADVIA Centaur (Bayer Healthcare LTD., USA) for HIV-1/2 antibody detection. Among them, 74 positive and 50 negative samples were tested by the Western immunoblot assay (WIB) and OraQuick test as a case-control study. Also, oral fluids from 30 HIV patients and 48 healthy persons were tested by OraQuick test. Results: The sensitivity and specificity of OraQuick test (using serum samples) were 100% and 98.8% (95% confidence interval 96.9∼100%), respectively. OraQuick tests (using oral fluid samples) were all positive for HIV patients but all negative for healthy persons. Conclusion: This study suggests that OraQuick can be used successfully as a rapid test for the early detection of HIV-1/2 antibody in patients visiting emergency departments and for the prevention of HIV infection in the health care providers.

동양 안충증 1예

최태윤,김원배,이동화,강득용,김동건,유기숙 대한임상병리학회 1992 대한임상병리학회지 Vol.12 No.1

갈락토오스혈증에 대한 신생아 선별검사의 사용 시약 및 검체 보관에 따른 영향

최태윤,윤혜란 德成女子大學校 藥學硏究所 2007 藥學論文誌 Vol.18 No.-

Classic galactosemia is caused by impaired galactose-1-phosphate uridyltransferase (GALT EC 2.7.712). If discovered and treated within the first days of life, the acute problems of hepatocellular damage, sepsis, and death are prevented. However, chronic problems such as ataxia, tremor, dyspraxic speech, and ovarian failure may occur. The study was devised to determine whether galactosemia assay method, period of specimen storage, and reagent from different commercial company used affect result of the assay for screening newborns After different concentration level of in-house made galactose was spotted onto control blood specimen it was distributed to the 15 clinical testing laboratories, galactose assay results were received by mail. Correlation coefficient of inter-laboratory and between-laboratory was analyzed depending on period of specimen storage. 6 laboratories was used reagent from ICN, 8 from BioRad, and 1 from Perkin Elmer for galactose testing. For normal reference range from ICN was less than 8, 10, or 12 mg/dL, from BioRad was less than 8, 11, 12 or 13 mg/dL, from Perkin Elmer was less than 10 mg/dL. In case of enzyme colourimetric method, inter-laboratories correlation coefficient was 14 % on the concentration of 1.7 mg/dL, 9 % on the concentration of 2.7 mg/dL, 12 % on the concentration of 4.1 mg/dL, 9 % on the concentration of 7.7 mg/dL, 3 % on the concentration of 14.1 mg/dL, 9 % on the concentration of 34.0 mg/dL for normal negative control specimen, and 10-16% for positive control specimen. After 1 year of storage in refregerator, repeating testing showed within 20 % difference of correlation coefficient, however, results did not show significant difference in both statistics and diagnosis. As a result of our study, each laboratory using different reagent and different assay method ought to determine it's own reference range, is necessary to store newborn screening specimen for 2 years in the refregerator.

골수내 비만세포의 증가를 동반한 급성 골수성 백혈병 1예

최태윤,김원배,이동화,강득용 大韓血液學會 1986 大韓血液學會誌 Vol.21 No.2

원내 및 원외감염성 향군병 3예

최태윤,김원배,이동화,강득용 대한임상병리학회 1993 대한임상병리학회지 Vol.13 No.3

관동맥 심질환 환자에서 Paraoxonase 유전자 2형의 유전자형 빈도에 대한 연구

최태윤,이유경,김원배,이동화,현민수,서세웅,김성구,권영주 대한임상병리학회 1999 대한임상병리학회지 Vol.19 No.4