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무증상 신생아에서 진단된 중쇄 acyl-CoA 탈수소효소 결핍증 1례
경예찬,허림,권영희,이지은,조성윤,진동규,이정호,이동환,Kyung, Yechan,Huh, Rimm,Kwun, Younghee,Lee, Jieun,Cho, Sung Yoon,Jin, Dong-Kyu,Lee, Jeongho,Lee, Dong Hwan 대한유전성대사질환학회 2015 대한유전성대사질환학회지 Vol.15 No.1
중쇄 acyl-CoA 탈수소효소 결핍증은 미토콘드리아에 존재하는 효소 중 하나인 MCAD의 부족으로 인하여 적절한 지방산 산화가 이루어지지 못하는 대사질환으로 지방산 산화와 관련된 대사 질환 중 가장 흔한 형태이다. 다양한 임상증상으로 저혈당, 발달지연, 발작, 돌연사 등이 나타날 수 있다. 저자들은 신생아 선별검사상 C6, C8, C10:1 acylcarnitine, C8/C2 ratio 혹은 C8/C10 ratio의 증가를 보이는 무증상의 신생아에서 유전자 분석검사를 통해 MCAD 결핍증을 진단하였다. 생후 10개월 경, 고열을 동반한 전신 강직성간대경련 발생하였으나 혈액검사 상 저혈당은 관찰되지 않았고 발열 호전된 후 추가적인 경련은 없었다. 이후 생후 25개월까지 추적관찰 하였을 때 경련을 포함한 증상 없었고, 정상적인 성장과 발달을 보였다. 무증상의 신생아에서 신생아 선별검사를 통해 우연히 MCAD 결핍증으로 진단된 후 1회의 열성경련 발생하였으나 대사성 위기없이 정상적인 성장 및 발달을 보이고 있는 환아가 있어 이에 증례를 보고하는 바이다. Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common mitochondrial fatty acid oxidation disorder which is inherited as an autosomal recessive pattern. MCAD deficiency is caused by mutations in the ACADM gene; medium-chain acyl-CoA dehydrogenase gene (ACADM; OMIM 607008) on chromosome 1p31 which encodes MCAD, the mitochondrial enzyme which catalyzes the first reaction in beta-oxidation of fatty acids with medium-chain length. Here, we describe one Korean pediatric case of MCAD deficiency, which was diagnosed during newborn screening by tandem mass spectrometry and confirmed by molecular analysis. The level of hexanoyl (C6), octanoyl (C8), decenoyl (C10:1) carnitine, and C8/C2 ratio was elevated. Homogenous c.1189T>A (p.Tyr397Asn) mutation of ACADM gene was identified by direct sequencing. He has been asymptomatic and has shown normal growth and development by 25 months of age without any intervention. There was no episode of metabolic acidosis during follow-up period.
경예찬,최영배,이나희,이수현,성기웅,구홍회,유건희 대한소아혈액종양학회 2014 Clinical Pediatric Hematology-Oncology Vol.21 No.2
Background: Although acute myeloid leukemia occurring in patients with Down syndrome (AML-DS) is generally chemosensitive, these patients are more susceptible to regimen-related toxicities, and the optimal post-remission therapy for AML-DS is unknown. This study aimed to evaluate the outcome of post-remission chemotherapy using low dose cytarabine for AML-DS. Methods: We reviewed the medical records of 142 patients who were newly diagnosed as de novo AML between 1996 and 2011. Among them, 8 patients (5.6%) had Down syndrome. Seven patients received standard induction therapy composed of cytarabine (or behenoyl cytarabine) and anthracycline. Once complete remission (CR) was achieved, repetitive courses of low dose cytarabine were given. Results: Patients’ median age at diagnosis was 1.3 years (range, 0.4-1.9). All but one showed French-American-British (FAB) M7 morphology. Six patients achieved CR (75%) after induction therapy and then received 9 to 20 courses (median, 14) of low dose cytarabine. One patient had 2 episodes of neutropenic fever, whereas the other 5 patients did not suffer from any complication. All six patients are alive event-free with a median follow-up of 118 months (range, 33-208). The estimated 5-year overall survival of all 8 AML-DS patients was 87.5%, while that of non-DS de novo AML patients was 58.6% (P=0.18). Conclusion: Low dose cytarabine was safe and effective as a post-remission therapy for AML-DS. Due to the rarity of AML-DS, a multicenter cooperative study is essential to identify the optimal duration of treatment and to further determine the feasibility of low dose cytarabine for these patients.
경예찬 ( Ye Chan Kyung ),김지현 ( Ji Hyun Kim ),김홍관 ( Hong Kwan Kim ),한정호 ( Joung Ho Han ),안강모 ( Kang Mo Ahn ) 대한천식알레르기학회 2015 Allergy Asthma & Respiratory Disease Vol.3 No.1
Pulmonary alveolar proteinosis (PAP) is a diffuse lung disease characterized by the accumulation of lipoproteins derived from surfactants in the distal air space. The lack of granulocyte macrophage colony-stimulating factor is believed to contribute to macrophage dysfunction and the impaired processing of surfactants. Because the prevalence of PAP in the general population is less than 1 in 200,000, and the typical age at presentation is 35 to 50 years, PAP is a very rare disease in children. To the best of our knowledge, there has been no Korean report on PAP in children. We describe here a patient who was diagnosed with PAP at the aged 15 years.
A pediatric case of Brugada syndrome diagnosed by fever-provoked ventricular tachycardia
김지나,경예찬,강이석,송진영,허준,온영근 대한소아청소년과학회 2014 Clinical and Experimental Pediatrics (CEP) Vol.57 No.8
Brugada syndrome is a rare channelopathy associated with the SCN5A gene that causes fatalventricular arrhythmias. This case of Brugada syndrome, in which ventricular tachycardia (VT) wasprovoked by high fever, is the first report in a Korean child. The boy had retinoblastoma of his left eyediagnosed at 16 months of age. After chemotherapy, he contracted a catheter-related infection with ahigh fever up to 41°C leading to monomorphic VT. This was characterized as having right bundle branchblock morphology, superior axis deviation, and a heart rate of 212/min. Direct current cardioversionrecovered the VT to sinus rhythm after a lack of response to amiodarone and lidocaine. A secondattack of VT that was not controlled by cardioversion, however, responded to lidocaine. The baselineelectrocardiogram showed a long PR interval and QRS duration, and the patient’s grandfather had ahistory of Brugada syndrome. A mutation in SCN5A was identified in this patient, his father, and hisgrandfather. The patient was treated with quinidine and followed up for 1 year.
면역글로불린 E 매개 계란 알레르기 환자에 대한 경구 면역치료 3예
김인성,이보라,경예찬,정민영,양혜경,김민지,이지영,김지현,안강모,정혜인 대한 소아알레르기 호흡기학회 2020 Allergy Asthma & Respiratory Disease Vol.8 No.3
Food allergy is an immune-mediated adverse reaction that occurs mainly by food ingestion. Some children with food allergies manifest fatal symptoms like anaphylaxis. Oral immunotherapy (OIT) may offer an effective therapeutic modality for persistent and severe forms of food allergies. We report our experience with OIT in 3 patients with IgE-mediated hen’s egg allergy. Our treatment strategy consists of 1–3 days of initial escalation, 47 to 65 weeks of build-up phase, and 1 year of maintenance phase. Lactobacillus plantarum CJLP133, 1×1010 colony-forming unit/day was taken during OIT. As a result, 1 patient achieved successful desensitization, and 1 patient reached maintenance therapy, but did not obtain desensitization. In addition, 1 patient withdrew from treatment due to anxiety symptoms. Despite the limited number of patients, we experienced and herein presented 3 cases of OIT in egg allergy. More trials of OIT need to be performed as a treatment option in Korean children with food allergies.
기관지확장증이 있는 16세 여자 환자의 비결핵 항산균 폐질환
송유선,정혜인,이보라,허희재,고원중,김지현,안강모,경예찬 대한 소아알레르기 호흡기학회 2020 Allergy Asthma & Respiratory Disease Vol.8 No.4
Nontuberculous mycobacterial (NTM) pulmonary disease generally occurs in old people with underlying lung disease. However, unlike adults, NTM infections in children with normal immunity are rare, and they occasionally manifest as lymphadenitis. We herein present a rare case of NTM pulmonary disease in a girl who is the youngest patient reported in Korea. A 16-year-old female was brought to the hospital because of dyspnea on exertion, fever, and productive cough. The patient had bronchiectasis. She underwent Fontan operation for right isomerism, double outlet right ventricle, pulmonary stenosis, and had been taking prophylactic antibiotics for asplenia. NTM were found in the sputum and bronchoalveolar lavage fluid by acid fast bacillus (AFB) staining and culture, which were identified as Mycobacterium avium. The treatment started with azithromycin, ethambutol and rifampicin. After 6 months of treatment, respiratory symptoms improved and the sputum AFB culture became negative. She is currently on medication with above-mentioned drugs for 10 months without any adverse effects. This case suggests that NTM pulmonary disease should be suspected and properly treated especially in children and adolescents with underlying lung disease.