• Pediatric Infection and Vaccine
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• v.24 no.3
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• pp.152-159
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• 2017

Purpose: X-linked agammaglobulinemia (XLA) is a primary immunodeficiency caused by mutations in the Bruton's tyrosine kinase (Btk) gene. The aim of this study was to investigate the clinical manifestations, molecular features, and treatment status of XLA in Korean patients at Seoul National University Children's Hospital. Methods: Fourteen Korean boys with XLA showing serum agammaglobulinemia, non-detectable to less than 2% of peripheral B-cells, and mutation of the Btk gene were enrolled. We observed the clinical features, laboratory findings, status of treatment, and complications in these XLA patients. Results: All XLA patients had a history of recurrent bacterial infections before diagnosis, and 20% of them had a neutropenia. Of the XLA patients 35.7% had a family history of XLA and 75% of their mothers were carriers. Btk gene analysis showed variable gene mutations in Xq22 including 9 amino acid substitutions, 3 frameshifts, 1 premature stop codon, and 1 splice defect. After intravenous immunoglobulin replacement therapy, infection episodes decreased, but complications such as bronchiectasis and chronic sinusitis remained. Conclusions: In patients less than 4 years of age with recurrent infection, analysis of serum gamma globulin levels and the Btk gene are recommended for the early diagnosis of XLA and for the appropriate prevention of recurrent infection.

• Clinical and Experimental Pediatrics
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• v.49 no.10
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• pp.1093-1099
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• 2006

Purpose : Homocysteine is a strong and independent risk factor for cardiovascular disease. The deleterious effects of homocysteine included endothelial dysfunction, arterial intimal-medial thickening, wall stiffness and procoagulant activity. However, the precise mechanism responsible for homocysteine release in children with coronary artery disease is still unknown. The purpose of this study was to investigate serum homocysteine and tumor necrosis $factor(TNF)-{\alpha}$ levels and identify whether these levels had any association with the development of coronary artery lesions in Kawasaki disease(KD). Methods : Serum homocysteine and $TNF-{\alpha}$ levels were measured in 24 KD patients(group 1, eight patients with normal coronary artery; group 2, 16 patients with coronary artery lesions) and 21 controls(group 3, 10 afebrile controls; group 4, 11 febrile controls). Blood samples were drawn from each study group before and after intravenous immunoglobulin(IVIG) therapy and in the convalescent stage. Results : The homocysteine levels before IVIG therapy were significantly higher in group 1 than in group 3, and in group 2 than in group 3 and 4. The $TNF-{\alpha}$ levels before IVIG therapy were significantly higher in group 2 than group 3 and 4. Serum homocysteine and $TNF-{\alpha}$ levels were highest in group 2 before IVIG therapy. In the acute KD patients, serum homocysteine levels correlated significantly with $TNF-{\alpha}$ levels. Conclusion : The increased serum homocysteine levels in the acute stage increase the susceptibility to coronary arterial lesions in KD. $TNF-{\alpha}$ may also play an important role in the formation of coronary arterial lesions in KD.

• Clinical and Experimental Pediatrics
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• v.48 no.7
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• pp.772-778
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• 2005

Purpose : Kawasaki disease(KD) is a systemic panvasculitis that causes coronary artery lesions. KD is accompanied by immunoregulatory abnormalities. Nitric oxide(NO) can induce relaxation of blood vessels by activating guanylate cyclase in smooth muscle cells and high levels of NO may result in coronary artery lesions. We investigated tumor necrosis factor$(TNF)-{\alpha}$ and NO production before and after intravenous immunoglobulin(IVIG) therapy to study the roles of NO and $TNF-{\alpha}$ in KD with coronary artery lesions. Methods : Serum levels of NO and $TNF-{\alpha}$ were measured in 24 patients with KD(group I, eight patients with normal coronary artery; group II, 16 patients with coronary artery lesions) and 23 controls(group III, 13 afebrile controls; group IV, 10 febrile controls). Blood samples from each subject were drawn before and after IVIG therapy and in the convalescent stage. Serum concentrations of NO and $TNF-{\alpha}$ were measured by enzyme linked immuno sorbent assay. Results : The NO levels before IVIG therapy were significantly higher in group II than in group I, group III and group IV. After IVIG therapy the levels of NO were significantly higher in group I and group II than in group III. The $TNF-{\alpha}$ levels before IVIG therapy were significantly higher in group I and group II than in group III. The serum $TNF-{\alpha}$ and NO levels were higher before IVIG therapy and decreased through the convalescent stage in KD patients. In the acute stage of KD patients with coronary artery lesions, serum NO levels significantly correlated with white blood cells (r=0.43, P<0.05). Conclusion : The serum concentration levels of $TNF-{\alpha}$ and NO were abnormally high in KD patients and NO concentrations were statistically higher in the KD patients with coronary artery abnormalities than those without coronary abnormality during the early stage of the KD. These results suggest NO may be involved in the development of coronary artery lesions.

• Clinical and Experimental Pediatrics
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• v.45 no.6
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• pp.783-789
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• 2002

Purpose : We evaluated the epidemiologic characteristics and incidence of coronary artery sequele of children with KD according to treatment. Methods : We retrospectively analyzed 506 medical records of children with KD, who were admitted at Daejeon St. Mary's Hospital from Jan. 1987 to Dec. 2000. Results : The mean annual incidence was $36.1{\pm}11.1$ cases per year. There was a slightly higher occurrence in summer with no significant difference in monthly incidence. The mean age was $2.4{\pm}1.7$ years and 450 children(88.9%) were below four years of age. The male to female ratio was 1.7 : 1. When the 345 cases between 1987 and 1994 were divided into three groups according to treatment, incidences of the coronary abnormality(above grade II) of aspirin-treated(54 cases; 15.6%), divided-intravenous immunoglobulin(IVIG) treated($400-500mg/day{\times}4-5days$, 224 cases; 64.9%), and one-dose IVIG treated(2.0 g/day, 67 cases; 19.5%) groups were 8.3%, 6.0%, and 7.5%, respectively. Between 1995 and 2000, 143 cases were treated with only one-dose IVIG and 21 cases(14.7%) showed coronary artery abnormalities(grade I, 15 cases; grade II, two cases; and grade III, four cases). Among the 143 cases, 22 cases(15.1%) were retreated with IVIG and/or steroid pulse therapy. The incidence of coronary artery abnormality in this group was 50.0%. Incidences of cases in recurrence and among siblings were 0.6% and 0.4% respectively. There was no fatal case. Conclusion : In Daejeon, Korea, the epidemiologic feature of KD showed slight annual variations without monthly differences. The incidence of coronary abnormality with one-dose IVIG therapy was 14.7%. The nonresponse of this therapy was 15.1% with a coronary abnormality of 50.0%.

• Clinical and Experimental Pediatrics
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• v.49 no.7
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• pp.790-795
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• 2006

Purpose : This study was performed to compare the therapeutic effects according to duration of medium-dose aspirin(50-60 mg/kg/day) therapy at the acute stage of Kawasaki disease(KD). Methods : Total 87 patients with KD were enrolled in this study. We performed retrospective analysis of clinical characteristics and echocardiographic findings based on medical records. Patient were randomly divided into 2 groups according to the duration of aspirin therapy at the acute stage of KD. Long-term group(LG, n=55) was administered medium-dose aspirin for 2 weeks after diagnosis of KD, and short-term group(SG, n=32) for 48 hours after intravenous immunoglobulin(IVIG) administration. The parameters of therapeutic effects were duration of fever after IVIG administration, incidence of unresponsive patients to single administration of IVIG, and development of transient dilatation or aneurysm of coronary arteries. Results : There was no significant difference in the duration of fever after IVIG between the both group(LG $1.7{\pm}1.1$ days, SG $1.8{\pm}1.1$ days; P=0.588). The incidences of unresponsive patient to the single administration of IVIG were 5.5 percent, 6.3 percent in the each group. Transient dilatation of coronary arteries occurred at 18.2 percent(10/55) in the LG, and 15.6 percent(5/32) in the SG(P=0.761). Prevalence of coronary aneurysm after subacute stage were 7.3 percent(4/55) in the LG, and 9.4 percent(3/32) in the SG(P=0.728). Conclusion : There was no significant difference in the therapeutic effects between long-term(2 weeks) and short-term(48 hours) administration of medium-dose aspirin at the acute stage of KD.

• Journal of Yeungnam Medical Science
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• v.22 no.1
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• pp.52-61
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• 2005

Background: Guillain-Barre syndrome is defined as a recognizable clinical entity that is characterized by rapidly evolving symmetric limb weakness, the loss of tendon reflexes, absent or mild sensory signs, and variable autonomic dysfunctions. This study evaluated the clinical and electrophysiological findings retrospectively. Materials and Methods: Forty-five patients with Guillain-Barre syndrome, who were admitted to the Yeungnam University Hospital for six years from Jan. 1994 to Dec. 1999 were investigated. The correlation between the clinical manifestation and the electrophysiological study was evaluated. Results: The male to female ratio was 1.8:1 and there was a peak seasonal incidence in the winter. A preceding illness was noted in 66.7 % of cases, and an upper respiratory tract infection was the most common one. The most common clinical manifestations were a loss of tendon reflex and ascending muscle weakness and paralysis. The cerebrospinal fluid examinations revealed, albuminocytologic dissociation in 33 cases (73.3 %). Intravenous immunoglobulin therapy was performed in 29 cases (64.4 %). The sequential electrophysiological abnormalities were most marked at 2 to 4 weeks after onset. At that time the most significant change was a decrease in the compound muscle action potential amplitude. These 45 patients with Guillain-Barre syndrome were subclassified using the clinical and electrophysiological data. Conclusion: The result in this study, concured with other research on the clinical and electrophysiological data of Guillain-Barre syndrome. However, an extensive and dynamic investigation is necessary to determine the reason for the peak seasonal incidence in winter.

• Clinical and Experimental Pediatrics
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• v.45 no.4
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• pp.505-511
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• 2002

Purpose : Mean platelet volume(MPV) and platelet distribution width(PDW) are useful parameters in evaluating disorders of platelets. In cases with idiopathic thrombocytopenic purpura(ITP), they change as platelet count increases. In this study, we compared the values of MPV and PDW in ITP patients at diagnosis with those of normal children. We also studied whether the early changes in MPV may predict the clinical course. Methods : From December 1995 to May 2001, 71 patients with ITP were admitted to Ajou University Hospital. They were treated with IVIg 400 mg/kg for five days and MPV, PDW, platelet count were analysed. Normal control group(n=38) was compared. The study group was divided into acute and chronic forms, and also divided into group A, good early responders whose platelets increased more than $100,000/{\mu}L$ within 5 days and group B who did not. Results : Mean value of MPV at diagnosis in ITP patients was lower than the normal control group(P<0.05). In group A, MPV was abruptly increased on the first day after IVIg and then started to decrease. But in group B, MPV was steadily increased until the fourth day after IVIg. In the normal control group, there were inverse correlations between platelet count and MPV(r=-0.415, P<0.05), but in ITP patients, there were positive relationships between platelet count and MPV(r=0.646, P<0.05) at diagnosis. Conclusions : MPV at diagnosis of ITP was lower than the normal control. MPV and PDW could not predict the course of ITP patients, but MPV could distinguish good early responders. More research is needed to find out the reasons of decreased MPV at diagnosis of ITP.