Dae Kyun Koh

Polymorphisms of Human Leukocyte Antigen Genes in Korean Children with Kawasaki Disease

BackgroundKawasaki disease is a leading cause of acquired heart disease in children. The prevalence rate varies in different ethnic groups. Recently, with the clinical application of molecular genetic technology, human leukocyte antigen (HLA) polymorphisms associated with several diseases have been identified by DNA analysis. This study aimed to assess the association of HLA alleles with susceptibility and complications of Kawasaki disease in Korean children.MethodsIn this study, DNA was extracted from 74 children with a diagnosis of Kawasaki disease. The polymorphisms of the HLA-A, -B, -C, and -DRB1 alleles of patients with Kawasaki disease were determined by polymerase chain reaction (PCR)–amplification refractory mutation system (ARMS) and PCR–sequence-specific primer (SSP) analysis. The polymorphisms identified were compared with those of 159 normal healthy control subjects.ResultsThere was a significant increase in the frequencies of the HLA-B35, -B75, and -Cw09 alleles in patients with Kawasaki disease compared with the healthy control group. There was no increase in the frequency of HLA-DRB1 alleles among the Kawasaki disease patients compared with a healthy control group. When the patients with Kawasaki disease were divided into two subgroups, with or without coronary complications, the Kawasaki disease patients with coronary complications showed a significantly increased frequency of the HLA-DRB1*11 allele compared with the healthy control group and increased frequency of HLA-DRB1*09 in a comparison of the subgroups.ConclusionsThis study suggests that polymorphisms in some alleles of B and C in HLA class I genes are associated with Kawasaki disease in Korean children.

Recent incidence of congenital heart disease in neonatal care unit of secondary medical center: a single center study

Purpose With feasibility in the diagnoses of congenital heart disease (CHD) in the antenatal period, we suspect changes have occurred in its incidence. No data have been reported about the current incidence of simple forms of CHD in Korea. We have attempted to assess the recent incidence and characteristics of CHD in the neonatal care unit of a secondary referral medical center. Methods Medical records of 497 neonatal care unit patients who underwent echocardiography in the past 5 years were reviewed. Pre-term infants with patent ductus arteriosus and other transient, minimal lesions were excluded from this study. Results Although the number of inpatients remained stable, the incidence of simple forms of CHD showed a gradual decrease over the 5-year study period; a markedly low incidence of complex forms was seen as well. CHD was observed in 3.7% full-term and 6.8% pre-term infants. CHD was observed in 152 infants weighing >2,500 g (3.5% of corresponding birth weight infants); 65 weighing 1,000 to 2,500 g (9.3%); and 6 weighing <1,000 g (8.0%). The incidence of CHD was higher in the pre-term group and the low birth weight group than in each corresponding subgroup (P<0.001); however, the incidence of complex CHD in full-term neonates was high. The number of patients with extracardiac structural anomalies has also shown a gradual decrease every year for the past 5 years. Conclusion Findings from our study suggest that the recent incidence and disease pattern of CHD might have changed for both complex and simple forms of CHD in Korea.

Cancer in thyroid nodules with fine-needle aspiration in Korean pediatric populations

Purpose To determine the prevalence and clinical findings of benign thyroid nodules and cancer in Korean pediatric patients with thyroid nodules. Methods We investigated the medical records of 134 patients aged younger than 18 years who had a goiter, thyroid nodule, thyroid mass, or thyroid cancer who underwent fine needle aspiration biopsy (FNAB). Results The study population included 113 females (84.3%) and 21 males (13.7%); the mean patient age was 16.1±2.3 years (range, 8–18 years). Of the 134 patients, 24 (18.0%) were finally diagnosed with thyroid cancer, of which 20 (83.3%) were papillary cancer and 4 (16.7%) were follicular cancer. No patient was exposed to radiation. FNAB revealed malignant cancer in 21 of the patients; 3 were initially reported as having benign tumors by FNAB, but were later diagnosed with follicular cancer. An additional 13 patients were suspected to have malignant tumors by FNAB, with a final diagnosis of nodular hyperplasia. Cystic nodules were more common in the benign group. The percentages of cervical lymphadenopathy and irregular nodular margins were higher in the malignant group compared to the benign group. Cervical lymphadenopathy and FNAB malignant findings were highly suggestive of malignant nodules. Conclusions Thyroid cancer prevalence in a Korean pediatric population is comparable to reported estimates of worldwide thyroid cancer prevalence. In this population, cancer predominates on the right thyroid lobe. Papillary thyroid cancers are dominant in the Korean pediatric population but are less prevalent than in Korean adults. As expected, FNAB was highly accurate in predicting malignant nodules.

Giant Coronary Aneurysms in a one-month-old Infant with Kawasaki Disease.

To the Editor: The diagnosis of Kawasaki disease (KD) is now being made very early in the clinical course, while still may be missed in patients outside the characteristic age range for KD. Because coronary complications occur more frequently, patients with prolonged fever and some features consistent with KD should be managed with a presumptive diagnosis of KD until a definitive diagnosis is made. A 31-d-old infant was admitted and treated with antibiotics due to fever and high concentrations of acute-phase proteins and pyuria. Urine culture yielded Enterobacter cloacae. The infant developed target-shaped rash on the second day of antibiotics with marked eosinophilia (>30 %) which improved with prednisolone, which also masqueraded fever. On the seventh day after onset of fever, echocardiography revealed trivial mitral regurgitation but, short term follow-up was not performed because the infant was considered too young to have KD and discharged from the hospital. On the 16th day after onset of fever, the patient was brought back to the emergency room because of lethargy and mottling on the extremities. The serum pro-B-type natriuretic peptide concentration was 10,315 pg/ml. Echocardiography showed giant aneurysms in the right and left coronary arteries (Fig. 1). The patient was improved with after-load reducing agents, an intravenous immunoglobulin, prednisolone, and warfarin. Computed tomographic angiography revealed bilateral axillary aneurysms (Fig. 2). One year later, coronary angiography revealed dramatic resolution of the giant coronary and axillary aneurysms with no residual stenosis and is currently on 3 y follow-up with low-dose aspirin. With an increasing incidence of KD [1], several neonates have been diagnosed with KD in the recent years [2]. However, the means of diagnosis of the early phase of KD in neonates remains controversial. The advice to perform short-term echocardiographic follow-up was rejected in our case, as the diagnosis of sepsis was considered first and giant coronary and axillary aneurysms developed only 6 d after the initial echocardiographic check. Others have reported the significance of echocardiography during the course [3, 4]. A high index of suspected KD and short-term follow-up with echocardiography of very young febrile infants until the possibility of KD has been completely ruled out appears critical for the treatment.

665Polymorphism of cytokines and killer immunoglobulin-like receptor (KIR) gene in children with Bacille Calmette-Guérin lymphadenitis

(KIR) gene in children with Bacille Calmette-Guérin lymphadenitis Hyo Jin Kwon, MD; Seong Joon Kim, MD; Jong-Hyun Kim, MD, PhD; HeeBaeg Choi; Tai-Gyu Kim, MD, PhD; Dae Kyun Koh, MD, PhD; Jin Han Kang, MD, PhD; Department of Pediatrics, College of Medicine, The Catholic University of Korea, Seoul, South Korea; Department of Microbiology, College of Medicine, The Catholic University of Korea, Seoul, South Korea

Massive Cardiomegaly due to Dilated Cardiomyopathy Causing Bronchial Obstruction in an Infant

Dilated cardiomyopathy (DCMP) remains a life threatening disease in young patients and is often difficult to differentiate from myocarditis. Early recognition and treatment of DCMP are crucial for good prognoses in this patient population. The clinical course of patients with DCMP that result in cardiogenic shock varies according to the etiology as well as patient age. The volumetric expansion of the enlarged heart can compress adjacent structures causing a number of related symptoms, especially in infants with soft cartilaginous bronchi. Therapeutic strategies for treating these issues vary according to the type of complication encountered. We report a case of severe DCMP with sudden onset of massive cardiomegaly with heart failure complicated by bronchial obstruction in an infant.