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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.
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한국에서의 15년간 신생아 선별검사 실적 및 환아 발생률
최태윤,이동환,Choi, Tae Youn,Lee, Dong Hwan 대한유전성대사질환학회 2006 대한유전성대사질환학회지 Vol.6 No.1
Purpose : The Ministry of Health and Social Affairs adopted newborn screening for the low-income families in 1991 and expanded in 1997 to cover all newborns. At the beginning of the program 6 diseases were selected for screening but the number of screening items had been reduced to two (congenital hypothyroidism and phenylketonuria) from the year 1995. Now, the government program has a fifteen year history. The purpose of this study was to analyze results of neonatal screening tests and prevalence at birth of phenylketonuria and congenital hypothyroidism in Korea. Methods : The results of neonatal screening tests were collected from public health centers during 15 years from 1991 to 2005. These data were analyzed for number of tested newborns and prevalence at birth of the inborn errors of metabolism. Results : Neonatal screening test for inborn error of metabolism was performed for 3,707,773 newborns for 15 years. Among newborns who were screened 718 congenital hypothyroidisms and 86 phenylketonurias were detected, and these presented an prevalence at bith of congenital hypothyroidism 1/5,164 and that of phenylketonuria 1/43,114. The total prevalence of two diseases was 1/4,612. Conclusion : National screening program should be expanded to include all items of screening tests for whole newborns and established correct prevalence of other inherited metabolic diseases in Korea.
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최태윤,윤혜란 덕성여자대학교 약학연구소 2009 藥學論文誌 Vol.20 No.-
Hepatitis A occurs in 60-90% of people, mainly in children, adolescence, and adult, if exposed to the contagion hepatitis A virus (HAV) because it is highly susceptible. In the first half of the year 2009, symptomatic hepatitis A causing severe clinical manifestations has increased dramatically. Therefore we tried to evaluate the seroprevalence of hepatitis A virus and hepatitis A patients according to age and month. From July 2008 to August 2009, anti-HAV IgG and IgM antibody tests were conducted using the MEIA method by Abbott AXSYM equipment at the department of laboratory medicine, Soonchunhyang University Hospital. We retrospectively evaluated seropositivity of anti-HAY IgG antibody according to age. Also we retrospectively evaluated the characteristics of hepatitis A positive patient according to month. The positive rate of anti - HAV IgG test was 66% of total 1,316 peoples. Antibody positive rate was 67 % in aged 0-9 years, 30% in aged 10-19 years, 36% in aged 20-29 years, 54% in aged 30-39 years, 91% in aged 40-49 years, 99% in aged 50-59 years, 99% in aged 60-69 years, and 100% in aged more than 70 years. Patients diagnosed with hepatitis A was 217 (23%) in total of 962 peoples whose anti-HAY IgM antibody tests requested. The prevalence of the patient by age was 0.5% in aged 0-9 years, 3.7% in aged 10-19 years, 38.7% in aged 20-29 years, 43.8% in aged 30-39 years, 12.4% in aged 40-49 years, 0.5% in aged 50-59 years, 0.0% in aged 60-69 years, and 0.5% in aged more than 70 years. The number of patient by month was 4-7 from July 2008 to February 2009, then started to increase 17 from March 2009 and the highest number increase from April to June. After then the number of patients gradually began to reduce. The spread of hepatitis A has started spring of this year in July the occurrence of it has been reduced owing to the promotion of hand washing for preventing swine flu. Since patients with hepatitis A in their twenties and thirties accounted for more than 80% of the total patients with hepatitis A, for convenience, vaccination is performed without antibody test in their twenties and thirties showing low antibody retention rate. If they are older age than in their thirties. in case of absence of antibody vaccination is necessary with antibody test.
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선천성 부신과형성증에 대한 17-hydroxyprogesterone 신생아 선별검사의 검사 시약에 따른 참고치 설정
최태윤 순천향의학연구소 2004 Journal of Soonchunhyang Medical Science Vol.10 No.1
Background & object : Congenital adrenal hyperplasia (CAH) is difficult to detect in early stages. Failure to diagnose it in the initial state may lead to life-threatening adrenal crisis, inappropriate male sex assignment in the genetic female, acceleration of skeletal maturation and subsequent short stature. The importance of the neonatal screening test is being emphasized, but the reference values different according to laboratories and test reagents. The object of this study is to set appropriate reference ranges of 17-hydroxyprogesterone (17-OHP) neonatal screening test for congenital adrenal hyperplasia according to the test reagents and analyze reference range applied in each laboratory. Methods : Neonatal screening test was performed by enzyme immunoassay for 17-OHP using the collected dry bloods drawn out the capillaries of 500 neonate heels from 48 hours after birth to 1 week, for which the mass screening tests on inborn errors of metabolism were requested from January 2003 to August 2003 at the Soonchunhyang University Hospital. The measurement of 17-OHP was performed by ICN Neoscreen ELISA 17a-hydroxyprogesterone kit (ICN Pharmaceuticals. Inc., USA), Enzaplate 17-OHP kit (Bayer Diagnostic Ltd., Japan) and Microplate Neonatal 17-OHP kit (Bio-Rad Laboratories, USA). Reference values of 17-OHP neonatal screening test according to the test reagents were analyzed in the 500 newborns. Results : The mean value ± standard deviation (SD) of 17-OHP using ICN, Bayer and Bio-Rad reagents were 8.14±5.33 ng/mL, 4.74±2.00 ng/mL and 1.80±1.82 ng/mL, respectively. The mean value of 17-OHP was significantly different between test reagents (P<0.05). The 99% & mean±3SD reference ranges of 17-OHP using ICN, Bayer and Bio-Rad reagents were 0-22.99 & 0-24.13 ng/mL, 0-12.30 & 0-10.74 ng/mL and 0-7.85 & 7.22 ng/mL, respectively. Although same test reagents were used in laboratories, the applied reference ranges were various. Conclusions : The reference ranges of 17-OHP neonatal screening test for congenital adrenal hyperplasia were various according to laboratories and test reagents. It is better to establish an appropriate reference range of each reagent under the intensive quality control.
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