소아 결핵 감염 진단에 있어서 결핵 특이항원 자극 Interferon-${\gamma}$ 분비능 측정의 진단적 유용성

순유진,임백근,김황민,남궁미경,차병호,어영,전진경,Soon, Eu-Gene,Lim, Baek-Keun,Kim, Hwang-Min,NamGoong, Mee-Kyung,Cha, Byung-Ho,Uh, Young,Chun, Jin-Kyong 대한결핵및호흡기학회 2010 Tuberculosis and Respiratory Diseases Vol.68 No.5

Background: $QuantiFERON^{(R)}$-TB Gold In Tube (QFT-G IT) has been used for diagnosing latent tuberculosis infection and active tuberculosis (TB) since 2007. However, there has not been enough data on QFT-G IT for universal use in children. In this study, we evaluated the clinical usefulness of the QFT-G IT in pediatric practice. Methods: We retrospectively reviewed the clinical records of 70 patients younger than 18 years of age who had taken QFT-G IT and had a tuberculin skin test (TST) between July 2007 and July 2009 at Wonju Christian Hospital. The subjects were divided into two groups, asymptomatic TB exposure group and disease group. Four patients who were taking immunosuppressants during the study period were excluded. Results: A total of 66 immunocompetent children were included in this study. Among 27 asymptomatic children who had contact histories of TB, 6 (22.2%) were found to be positive by QFT-G IT. Eleven (40.7%) and 5 (18.5%) children were found to be positive by TST with cutoff values of ${\geq}5mm$ and ${\geq}10mm$, respectively. Agreement was fair to good between QFT-G IT and TST (${\kappa}=0.59$: cutoff value ${\geq}5mm$, ${\kappa}=0.7$: cutoff value ${\geq}10mm$). In disease group, 14 patients (35.9%) were diagnosed with active tuberculosis, 8/14 (57.1%) were positive on TST and 9/14 (64.3%) on QFT-G IT. The positive rate of acid-fast bacilli smear, TB-polymerase chain reaction, and culture for tuberculosis was 11% (1/9), 27.3% (3/11) and 33.3% (3/9), respectively. Conclusion: Our data support that the QFT-G IT can be used as an additional diagnostic tool for latent and active tuberculosis infection in children.

소아 결핵 감염 진단에 있어서 결핵 특이항원 자극 Interferon-γ 분비능 측정의 진단적 유용성

순유진 ( Eu Gene Soon ),임백근 ( Baek Keun Lim ),김황민 ( Hwang Min Kim ),남궁미경 ( Mee Kyung Namgoong ),차병호 ( Byung Ho Cha ),어영 ( Young Uh ),전진경 ( Jin Kyong Chun ) 대한결핵 및 호흡기학회 2010 Tuberculosis and Respiratory Diseases Vol.68 No.5

Background: QuantiFERON(R)-TB Gold In Tube (QFT-G IT) has been used for diagnosing Latent tuberculosis infection and active tuberculosis (TB) since 2007. However, there has not been enough data on QFT-G IT for universal use in children. In this study, we evaluated the clinical usefulness of the QFT-G IT in pediatric practice. Methods: We retrospectively reviewed the clinical records of 70 patients younger than 18 years of age who had taken QFT-G IT and had a tuberculin skin test (TST) between July 2007 and July 2009 at Wonju Christian Hospital. The subjects were divided into two groups, asymptomatic TB exposure group and disease group. Four patients who were taking immunosuppressants during the study period were excluded. Results: A total of 66 immunocompetent children were included in this study. Among 27 asymptomatic children who had contact histories of TB, 6 (22.2%) were found to be positive by QFT-G IT. Eleven (40.7%) and 5 (18.5%) children were found to be positive by TST with cutoff values of ≥5 mm and ≥10 mm, respectively. Agreement was fair to good between QFT-G IT and TST (κ=0.59: cutoff value ≥5 mm, κ=0.7: cutoff value ≥10 mm). In disease group, 14 patients (35.9%) were diagnosed with active tuberculosis, 8/14 (57.1%) were positive on TST and 9/14 (64.3%) on QFT-G IT. The positive rate of acid-fast bacilli smear, TB-polymerase chain reaction, and culture for tuberculosis was 11% (1/9), 27.3% (3/11) and 33.3% (3/9), respectively. Conclusion: Our data support that the QFT-G IT can be used as an additional diagnostic tool for Latent and active tuberculosis infection in children.

Rifampin으로 폐결핵 치료 중 발생한 혈소판 감소증 1례

박석원,조희숙,김황민,임백근,김종수,Park, Seok Won,Cho, Hee Suk,Kim, Hwang Min,Lim, Baek Keun,Kim, Jong Soo 대한소아감염학회 2000 Pediatric Infection and Vaccine Vol.7 No.2

저자들은 흉막삼출액을 동반한 폐결핵으로 입원한 13세 여아가 isoniazid 및 rifampin으로 치료 중 혈소판 감소증을 보였으며, 혈소판이 정상으로 회복된 후 리팜핀의 재투여로 발생한 혈소판 감소증 1례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다. Rifampin is a bactericidal antibiotic used primarily in the treatment of tuberculosis. The adverse effects of rifampin, though few, include dermatologic, gastrointestinal, and hepatic manifestations. Occasionally it produces a flu-like syndrome, interstitial nephritis, hemolytic anemia, and thrombocytopenia. These manifestations usually appear in patients who take the drug intermittently. We experienced a 13 year-old girl who developed thrombocytopenia during rifampin administration of daily dosage, therefore we report a brief review with the related literatures.

Cyclosporine에 의한 중추신경계 독성 1례

이도윤,남궁미경,김황민,임백근,Lee Do-Yoon,NamGoong Mee-Kyung,Kim Hwang-Min,Lim Baek-Keun 대한소아신장학회 1997 Childhood kidney diseases Vol.1 No.2

Cyclosporine is an immunosuppressant usually used to prevent renal transplantation rejection. Nephrotoxicity and hypertension are considered as the most frequent side effects of cyclosporine treatment. The neurotoxic effects of cyclosporine such as agitation, anxiety, delirium, depression and psychosis have recently been found. Methylprednisolone may increase as well plasma concentration of cyclosporine, which leads to side effects. Here we report a $Henoch-Sch\"{o}nlein$ nephritis patient treated with cyclosporine and methylprednisolone who has experienced psychosis including visual and auditory hallucination and convulsion.

3-Ketothiolase 결핍을 동반한 Partial Trisomy 9P 증후군 1례

나형준(Hyoung Joon Na),임현철(Hyun Chul Lim),임백근(Baek Keun Lim),이해용(Hae Yong Lee),차병호(Byung Ho Cha) 대한소아신경학회 2006 대한소아신경학회지 Vol.14 No.2

저자들은 반복적 구토와 식욕부진을 주소로 내원한 3세 여아에서 염색체 핵형검사 및 소변 유기산 검사를 통해 3-ketothiolase 결핍증을 동반한 partial trisomy 9p를 보인 환아 1례를 경험하였기에 보고하는 바이다. Trisomy 9p syndrome was first described by Rethore et al in 1970 and about 150 cases have been reported. The characteristic features of the partial trisomy 9p syndrome is clearly recognizable faces, which include microcephaly, facial deformities, skeletal and dermatoglyphic anomalies with variable degrees of mental retardation. The 3-ketothiolase deficiency was first described in 1971 and about 30 cases have been reported. The 3-ketothiolase deficeiency is an inborn error of isoleucine and ketone body catabolism that shows autosomal recessive traits, caused by a deficiency of mitochondrial acetoacetyl-coenzyme A thiolase(T2). We report a case of partial trisomy 9p syndrome with 3-ketothiolase deficeiency in a 4-years-old female. The karyotype of the patient was confirmed as 46,XY, add(9)(p23) mat. In the urine organic acid test, 3-ketothiolase deficiency was reported.

Kinky Hair 질환 1례

이영섭(Young Sup Lee),박석원(Seok Won Park),차병호(Byung Ho Cha),임백근(Baek Keun Lim),김종수(Jong Soo Kim),이원수(Won Soo Lee),김동진(Dong Jin Kim),김명순(Myung Soon Kim),조규남(Kyou Nam Cho),한시훈(Si Houn Hahn ) 대한소아신경학회 2001 대한소아신경학회지 Vol.9 No.1

저자들은 전신성 강직경련 및 발육지경, 호흡곤란으로 입원하여 추적관찰 중이던 15개월 남아에서 낮은 혈청 구리농도와 ceruloplasmin 농도를 보이며 전형적인 임상증상과 ATP7A의 Exon 19에서 점돌연변이를 보인 특징적인 Kinky hair 질환 1례를 경험하였기에 보고하는 바이다. Kinky hair disease is X-lined recessive neurodegenerative disorder produced by defects in a gene(ATP7A) that encodes an intracellular copper-transporting ATPase. About 90-95% of the patients have a severe clinical course leading to death in early childhood. ATP7A mutations associated with Menkes disease show great variety from cytogenetic abnormalities to partial gene deletions to single base-pair changes. We experienced a 15 month old boy with loss of developmental milestones, hypotonia, seizures and failure to thrive. On laboratory findings, the levels of serum copper and ceruloplasmin were low. Electron microscopy of hair illustrated pathognomic pili torti and other abnormalities such as trichorrhexis nodosa and trichoptilosis(longitudinal splitting of the shaft). Brain magnetic resonance image showed diffuse cerebral and cerebellar atrophy with tortousity of cerebral blood vessels. Genetic defect was evaluated. Our sequencing data on the amplified exon 19 of ATP7ase genomic DNA confirmed point mutation, G1255A, resulting in a glycine-to-arginine conversion. So, we report a brief view with the related literatures.

Hunter 증후군

안석용 ( Seok Yong Ahn ),이윤희 ( Yoon Hee Lee ),전수영 ( Soo Young Jeon ),임백근 ( Baek Keun Lim ),이원수 ( Won Soo Lee ) 대한피부과학회 2008 대한피부과학회지 Vol.46 No.7

We report a case of Hunter syndrome in a 4 year old boy, who presented with firm skin colored papules and nodules that coalesce to form a reticular pattern (pebbling of the skin) with extensive Mongolian spots. The lesions are arranged bilaterally and symmetrically over the scapulae, upper arm and lateral aspects of the thighs. He also has low intelligence, coarse face, saddle nose and claw hand contracture of both hands. The result of qualitative analysis of urine was positive for dermatan sulfate and heparan sulfate. And enzyme activity of iduronate-2-sulfatase is decreased in plasma and leukocyte. A skin biopsy specimen section stained with hematoxylin-eosin showed widely separated collagen bundles in the dermis associated with mucin deposition. (Korean J Dermatol 2008;46(7):928~932)

급성 위장관염에 의한 열성경련과 양성 경련의 비교 연구

최환석(Hwan Seok Choi),예관유(Gwan Yu Ye),김황민(Hwang Min Kim),임백근(Baek Keun Lim),차병호(Byung Ho Cha) 대한소아신경학회 2006 대한소아신경학회지 Vol.14 No.2

목 적: 본 연구는 급성 위장관염에 의해 유발될 수 있는 양성 경련과 열성경련의 임상 양상 및 예후를 비교해 봄으로써 두 경련간의 어떤 차이점이 있는지를 알고자 하였다. 방 법 : 2000년 1월부터 2004년 12월까지 연세대학교 원주의과대학 원주기독병원 소아과에 경련을 주소로 입원한 환아 중 급성 위장관염에 의해 유발된 열성경련 환아 29명과 양성 경련 환아 36명을 대상으로 발생 연령, 성별, 경련의 형태와 빈도 및 지속 시간, 일반 혈액 검사, 혈중 전해질 검사, 뇌척수액 검사, 뇌파 검사, 로타바이러스 항원 검출 여부, 과거력과 가족력을 의무기록 검토를 통해 후향적으로 비교하였으며, 추적관찰 동안 경련성 질환의 재발이나 다른 신경학적 후유증이 있었는지를 의무 기록 및 전화 통화를 통하여 확인하였다. 결 과 : 1) 열성경련군의 평균 연령은 15.7±8.4개월, 양성 경련군은 18.4±4.9개월로 두 군 간의 평균 연령은 통계적으로 유의한 차이가 없었다(P=0.12). 남녀 비는 각 각 1:1.4, 1:1.4로 두 군 간의 성비에는 통계학적 유의성이 없었다(P=0.98). 2) 두 군 모두 전신 발작의 형태를 보였고, 열성경련군은 전신성 강직-간대 발작이 14례(48.3%), 양성 경련군은 전신성 강직 발작이 19례(52.8%)로 가장 많았으나 각 각의 경련 양상의 빈도에는 두 군간의 통계학적 차이는 없었다. 3) 경련의 빈도와 경련의 지속시간은 열성경련군이 평균 1.89±1.64회, 5.32±6.85분, 양성 경련군이 평균 1.97±1.29회, 2.96±2.28분으로 두 군 간의 유의한 차이는 없었다. 4) 검사 소견 상 말초혈액 백혈구 수와 혈중 나트륨 농도는 두 군 간의 유의한 차이가 없었으며, 뇌파검사와 뇌척수액 검사를 시행 받은 환아는 모두 정상 결과를 보였다. 5) 대변 내 로타바이러스 항원 양성은 열성경련군이 4명(13.8%), 양성 경련군이 12명(33.3%)으로 대변 내 로타바이러스 항원 양성률은 양성 경련군에서 통계학적으로 의미 있게 높았다(P=0.004). 6) 추적 관찰 기간 내에 양성 경련군에서 4명(11.1%)은 단순 열성경련으로, 2명(5.6%)은 양성경련의 형태로, 1명(2.8%)은 전신성 강직-간대 발작으로 재발 하였고, 열성경련군에서 3명(10.3%)은 모두 단순 열성경련의 형태로 재발 하였으며, 경련성 질환의 재발은 두 군 사이에 유의한 차이가 없었다(P=0.31). 결 론: 급성 위장관염에 의한 경련은 로타바이러스 양성율 외에 다른 임상 양상에서 차이를 보이지 않았다. 본 연구에서 경련의 빈도에 두 군 간의 차이가 없는 것은 급성 위장관염에 의한 열성경련이 복합 열성경련의 형태로 나타나는 경향이 있음을 시사할 수도 있으나 향후 더 연구가 필요할 것으로 사료된다. 추적 관찰 기간 내에 신경발달 이상을 보인 환아는 두 군 모두에서 관찰되지 않아 신경학적 예후는 양호 하였다. Purpose : Acute gastroenteritis is one of the causes of febrile seizures or benign seizures in children. This study was performed to find out the clinical characteristics and the prognosis of convulsions by acute gastroenteritis. Methods : From January 2000 to December 2004, sixty five pediatric patients who suffered from convulsions due to acute gastroenteritis were classified into benign seizures (n=36) or febrile seizures(n=29) in Wonju Christian Hospital, Wonju College of Medicine, Yonsei University. We compared the age of onset, sex, the frequency and the duration of convulsions, blood electrolytes and peripheral white blood cell counts, findings of the cerebrospinal fluid examination, and the electroencephalograms between the two groups. In addition, we retrospectively analyzed their recurrence of convulsive diseases for 7 to 59 months after the first attacks. Results : There was no difference of onset age, frequency and duration of convulsion between the two groups (P=0.12, P=0.83 and P=0.08). The types of convulsions were generalized seizures in both groups. There were 16 cases of positive responses to the antigen tests for stool rotavirus, and 12 of them(75%) belonged to the benign seizure group. And other laboratory findings were normal. During the follow-up period, 4 patients(11.1%) in the benign seizure group experienced febrile seizures, 2 patients(5.6%) benign seizures and 1 patient a generalized tonic-clonic seizure, whereas 3 patients(10.3%) in the febrile seizure group experienced simple febrile seizures. Concl usi on : The comparative analysis between the benign seizure and the febrile seizure groups revealed no significant differences on the clinical characteristics except the number of positive responses to the rotavirus antigen tests in stool. And the recurrence rates of convulsions in both groups were similar with previous studies which showed no significant differences between the two groups.

선천성 양측성 요부탈장을 동반한 요부늑골척추 증후군

최재원 ( Jae Won Choi ),조현준 ( Hyun Jun Cho ),나영현 ( Young Hyun Na ),김미현 ( Mi Hyun Kim ),임백근 ( Baek Keun Lim ) 대한주산의학회 2013 Perinatology Vol.24 No.4

Lumbocos to vertebral syndrome is a rare type of congenital lumbar hernia. Its features include lumbar hernia associated with genitourinary, vertebral, and rib anomalies. About 30 cases have been reported in the English literature, but in Korea, there has not been a case reported. We experienced a neonate with multiple cost overtebral anomalies and bilateral lumbar hernia with liver and small intestine herniation diagnosed by physical examination and computed tomography. We report a case of a congenital lumbocos to vertebral syndrome in neonate with literature review.

Kawasaki병 환자에서 Salicylate용량에 대한 고찰

이해용,류상우,남궁미경,임백근 연세대학교 원주의과대학 1993 원주의대논문집 Vol.6 No.1