• Childhood Kidney Diseases
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• v.9 no.2
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• pp.222-230
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• 2005

Purpose : ARC syndrome refers to an association of arthrogryposis, renal tubular dysfunction, and cholestasis. The VPS33B gene was recently identified as the causative gene. So far, 41 cases of ARC syndrome have been reported worldwide, and it has rarely been reported in Korea. This study was conducted to report the clinical findings of seven ARC syndrome cases in Korean children, focusing especially on renal tubular dysfunction. Methods : The hospital records of 7 cases diagnosed as ARC syndrome at Severance Hospital between Mar. 1995 and Aug. 2005 were reviewed and analyzed. Results : Of the 7 cases, 4 were boys and 3 were girls. Six patients(85$\%$) were born with normal birth weight at term, and one was born at preterm. All cases presented with cholestasis and severe jaundice. According to the type of arthrogryposis described by Brown et al, type 3 and 4 were found in 2 patients and type,6, 7, and the undistributed type in one patient respectively. Other associated clinical findings were as follows : failure to thrive in 6(85$\%$), lax skin in 5(71$\%$), and gray platelet syndrome in 4(57$\%$). Urine analysis revealed 6 cases(85$\%$) with proteinuria, 3(43$\%$) with hematuria, 5(71$\%$) with glycosuria, 2(29$\%$) with phosphaturia and 2(29$\%$) with calciuria. Serum electrolytes showed 4 cases(57$\%$) with hyponatremia, 3(43$\%$) with hypokalemia, and 1(14$\%$) with creatinine elevation. Renal tubular dysfunctions were diagnosed as renal tubular acidosis in 6 cases(85$\%$), nephrogenic diabetes insipidus in 2(29$\%$), and Fanconi syndrome in 2(29$\%$). During the follow-up period, 2(29$\%$) had no treatment, 5(85$\%$) had continuous supplementation to correct the electrolyte imbalance and acidosis, and 1(14$\%$) had dialysis. Only one patient had a family history of ARE syndrome in a sibling. Four cases(57$\%$) were diagnosed at the mean age of 8.2 months, and one case was lost during follow-up. Ages of the survived 2 cases were 13 and 25 months, respectively. Conclusion : The rare disease of ARC syndrome Is associated with severe renal dysfunction. However, this study revealed that the renal manifestation of ARC syndrome in Korean children is relatively mild and survival rate is higher than that of previous studies. Contrary to previous reports, this study showed that familial cases are rare and sporadic occurence is possible in Korea. Thus, the diagnosis of this syndrome requires a careful evaluation of the venal function in cases of congenital arthrogryposis, and a mandatory genetic counseling of affected family for prevention of familial occurance. (J Korean Soc Pediatr Nephrol 2005;9:222-230)

• Clinical and Experimental Pediatrics
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• v.51 no.10
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• pp.1065-1070
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• 2008

Purpose : This study aims to determine whether early closure (within 7 d) of significant patent ductus arteriosus (PDA) with indomethacin or ligation reduces neonatal morbidity when compared with delayed closure (after 7 d). Methods : Fifty-eight extremely-low-birth-weight infants admitted to the NICU of Seoul National University Hospital from April 2005 to May 2007 with PDA were studied retrospectively. Results : The mean gestational age (GA) was $26{\pm}2weeks$ (range, 23-32 wk), and the birth weight was $782{\pm}146g$ (range, 430-990 g). The delayed closure group was associated with early GA ($25.7{\pm}1.7wk$ vs $27.1{\pm}2.0wk$, P=0.013), in vitro fertilization (IVF) (55% vs 24%, P=0.017), and the absence of preeclampsia (5% vs. 34%, P=0.013). There was no difference in ductal size between the early closure and delayed closure groups. The incidence of bronchopulmonary dysplasia (95% vs 65%, P=0.012) and intraventricular hemorrhage (70% vs. 39%, P=0.027) increased in the delayed closure group. Using regression analysis adjusted for gestational age, delayed closure correlated positively with the duration of ventilator support (P=0.008), hospitalization (P=0.020), time to full enteral feeding (P<0.001), and total parenteral nutrition (P=0.010). Conclusion : Delayed closure of the hemodynamically significant patent ductus arteriosus in extremely-low-birth-weight infants is significantly related to the development of various morbidities. Thus, early closure of PDA is needed within the first week of life.

• Clinical and Experimental Pediatrics
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• v.50 no.2
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• pp.157-162
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• 2007

Purpose : The purpose of this study was to analyze the epidemiology, causative organism, clinical manifestation and prognosis of bacterial meningitis for children after the introduction of Haemophilus influenzae type b (Hib) vaccine in Daejeon and Chungcheong area. Methods : We analyzed retrospectively 53 medical records who had been diagnosed with bacterial meningitis at 10 general or university hospitals in Daejeon and Chungcheong area. All patients aged 1 month-14 years admitted between January 2001 through December 2005. Results : During the 5-year study period, 40 of all cases were positive for bacterial growth. Of the 40 cases that were CSF culture-proven bacterial meningitis, Streptococcus peumoniae was the most common bacteria for 17 (32.1%) of all cases, followed by H. influenzae for 10 (18.9%), Neisseria meningitidis for 3 (5.7%). In this study, the most common clinical manifestation is fever, accompanied by all cases. CSF leukocyte count was more than $100/mm^3$ in 45 (84.1%) cases. CSF glucose concentration was less than 50 mg/dL in 42 (79.2%) cases and protein concentration was more than 45 mg/dL in 49 (92.5%) cases. 45 of all cases made a recovery after treatment and were discharged. Most common complication after treatment is subdural effusion (19.0%) and hearing disturbance (9.4%). Conclusion : The most common organism of culture-proven bacterial meningitis in the children beyond neonatal period was S. pneumoniae. Continued surveillance studies were demanded to know the altered incidence of bacterial meningitis, because we expect the incidence of S. pneumoniae meninigitis will be on the decrease after more active innoculation of pneumococcal protein conjugate vaccine.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.5 no.1
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• pp.33-43
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• 2005

Purpose: X-linked adrenoleukodystrophy(ALD) is a rare disorder that shows a great deal of phenotypic variability. We subdivided chidhood X-linked ALD patients into several phenotypes by the age at onset, the sites of most severe clinical involvement and the rate of progression of neurologic symptoms. Methods: Thirteen patients who had been diagnosed as X-linked ALD and followed up for at least one year were enrolled from 1996 to 2003. Results: 1. Ten had childhood cerebral ALD, who showed first neurologic symptoms at 7.02 years and progressed rapidly: interval between first symptoms and vegetative state was 1.35 years, and interval from initial symptoms to death was 3.35 years. Treatment with Lorenzo's oil did not prevent neurologic progression. Two patients who underwent umbilical cord blood transplantation died. 2. Two had adolescent cerebral ALD. They had first symptoms at 11.5 years, and showed tendency to progress less rapidly than childhood cerebral form patients. 3. One "Addison only" patient who had adrenal insufficiency without nervous system involvement remained asymptomatic during Lorenzo's oil treatment. 4. All cerebral form patients except one showed the lesions in both parieto-ocipital white matter in brain magnetic resonance imaging. Conclusion: The cerebral ALD was the most common form in childhood and was asoociated with a serious prognosis.

• Journal of Genetic Medicine
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• v.8 no.2
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• pp.119-124
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• 2011

Purpose: Supernumerary marker chromosome (SMC) could be associated with various phenotypic abnormalities based on the chromosomal origin of SMCs. The present study aimed to determine the genomic contents of SMCs using chromosomal microarray and to analyze molecular cytogenetic characterizations and clinical phenotypes in patients with SMCs. Materials and Methods: Among patients with SMCs detected in routine chromosomal analysis, SMCs originating from chromosome 15 were excluded from the present study. CGH-based oligonucleotide chromosomal microarray was performed in 4 patients. Results: The chromosomal origins of SMCs were identified in 3 patients. Case 1 had a SMC of 16.1 Mb in 1q21.1-q23.3. Case 2 showed 21 Mb gain in 19p13.11-q13.12. Case 3 had a 4.5 Mb-sized SMC rearranged from 2 regions of 2.5 Mb in 22q11.1-q11.21 and 2.0 Mb in 22q11.22-q11.23. Conclusion: Case 1 presented a wide range of phenotypic abnormalities including the phenotype of 1q21.1 duplication syndrome. In case 2, Asperger-like symptoms are apparently related to 19p12-q13.11, hearing problems and strabismus to 19p13.11 and other features to 19q13.12. Compared with cat-eye syndrome type I and 22q11.2 microduplication syndrome, anal atresia in case 3 is likely related to 22q11.1-q11.21 while other features are related to 22q11.22-q11.23. Analyzing SMCs using high-resolution chromosomal microarray can help identify specific gene contents and to offer proper genetic counseling by determining genotype-phenotype correlations.

• The Journal of Korean Medicine
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• v.15 no.2 s.28
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• pp.9-27
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• 1994

This study is to analyze of senile disease status and the social problem according to increased old ages, and then to find distributions of old man's diseases and health status efficiency of oriental-occidental contemporary health examination. And it is the first oriental-occidental contemporary health examination of old man performed by JeonJu Woosuk University Oriental Medicine Hospital and Woosuk-Clinic in nation. Methods The objects in this research are 641's old man of KimJe Gun's over 60's years performed medical examination at JeonJu Woosuk University Oriental- Mmedicine-Hospital and Woosuk-Clinic by oriental-occidental medical contemporary exam., from 1994, 24th June till 1994. 13th July. The 1st occident medical examination methods were consisted of chest x-ray check. blood and urine exam., measurement of blood pressure, visual power and audiometry. The Oriental medical examination methods were consisted of four diagnostics (望,聞,問,切), present illness. chief complaint, past history, families history, social history by question and SA Sang constitution test index. The results and conclusions The results and conclusions are the next: 1. In order of distribution. the athletic disease (75.8%),the digestive disease(43.4%), the circulatory disease(41.5%), the respiratory disease(22.3%), EENT disease(8.1%), the endocrinopathy(5.6%), and the genito-urinary disease(5.3%) are the results of the object about 641's old man, by the oriental-occidental medicine's contemporay exam. 2. Distribution of disease distiction are lumbago. gastritis and peptic ulcer. knee joint pain. heart disease. hypertension. chronic bronchitis. asthma. anemia. DM. Tbc. visual disturbance. CVA. etc in order. 3. Disease distribution according to age is almost high incident in 60-75years. Disease incidence is decreased except E.E.N.T disease in over 76years. 4. The relationships of disease and family history are: the 25.0% of CVA pts. has family history and the 11.6% of hypertension pts has family history. so they showed high relative family history. In addition the 5.6% of TBC pts. and the 2.6% of DM pts. have family history. 5. The relationships of disease and drinking are: Drinking proportion is the 36.4% in respiratory disease pts. the 34.7% in hypertension pts. the 33.3% in heart disease pts.. the 28.4% in digestive disease pts.. but because of no surveying drinking amount we can't know the absolut relationships of disease and drinking. 6. The relationships of Disease and smoking are: Smoking proportion is the 44.1% in respiratory disease pts.. the 38.0% in Heart disease pts.. the 29.8% in Hypertension pts.. but because of no surveying of smoking amount. we can't know the absolut relationships of disease and smoking. 7. Distribution of Sasang constitution is : Tae-eum-in 44.8%. So-yang-in 30.7%. So-eum-in 24.6%. Tae-yang-in 0.0%. And disease distribution of Sasang constitution distinction is ; Tae-eum-in has high incidence of circulation disease(50.0%) and respiratory disease(23.1%).So-yang-in has high incidence of athletics disease(77.7%) and EENT disease(12.2%), So-eum-in has high incidence of digestive disease(65.8%). 8. Distribution of abnormal result in occidental medical examination and oriental-occidental contemporal exam result is considerably different. This is the reason of needing oriental medicine exam, for characteristics of Senile. I think that the oriental-occidental contemporary examination in old man is much more effecient than only occident medical examination. This oriental-occidental contemporary examination has many defects because it is the first practice. To participate in the public health program efficiently. I think that we must improve lots of problems and present the model of the oriental-occidental contemporary examination and the project of oriental medicine's for public health.