• Journal of Genetic Medicine
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• v.6 no.1
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• pp.81-86
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• 2009

Multiple epiphyseal dysplasia (MED) is a clinically and genetically heterogeneous chondroplasia, characterized by delayed development of the ossification centers and, deformities of the extremities that involve only the epiphysis and result in mild short stature. Mutations in the cartilage oligomeric matrix protein (COMP) gene are most commonly found, and most of the mutations are located in the calmodulin-like repeats and the C-terminal domain. We report a Korean kindred of 12 family members with MED in four generations who were found to have a novel mutation in the COMP gene. A pedigree showed early onset osteoarthritis requiring arthroplasty that was an autosomal dominant inherited trait. Radiological examinations demonstrated the presence of osteochondral defects in the medial femoral condyles, and the knee and hip joints showed variable degrees of precocious degenerative changes. Mutation analysis of the COMP gene in the proband and five other affected family members identified a novel missense mutation, c.1280G>C (p.Gly427Ala) in exon 12, which was not found in three unaffected family members. Direct sequencing of the COMP gene may yield pathogenic mutations in dominantly inherited MED cases, and may provide opportunities of carrier detection among high-risk family members, leading to genetic counseling for early diagnosis and intervention before the onset of complications.

• Childhood Kidney Diseases
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• v.11 no.2
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• pp.294-298
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• 2007

Moyamoya disease is a progressive cerebrovascular disorder with stenosis or occlusion of the bilateral internal carotid arteries with abnormal vascular networks at the base of the brain. Previous reports have shown that there are extracranial vascular involvements in Moyamoya disease, especially in the renal artery. We report a 7-year-old patient with Moyamoya disease associated with renovascular hyper tension, who presented in infancy with seizures and hemiparesis. Renal angiography showed multiple stenoses of the right renal artery. Although renal artery stenosis in Moyamoya disease has been effectively treated with balloon angioplasty, stent implantation, or surgery, bat-loon angioplasty could not be done in this patient due to multiple stenoses. His blood pressure was successfully controlled with medical treatment, and remained normotensive during the follow up period of 6 months.

• Clinical and Experimental Pediatrics
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• v.53 no.3
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• pp.428-431
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• 2010

Thrombotic thrombocytopenic purpura (TTP) is a thrombotic microangiopathy characterized by endothelial cell damage, resulting in microangiopathic hemolytic anemia, thrombocytopenia, and various degrees of neurological and renal impairment caused by microvascular thrombi. It is rare in children and frequently follows a fatal course. TTP is divided into 2 types: one is inherited and associated with ADAMTS-13 gene mutations and the other is acquired and associated with anti-ADAMTS-13 autoantibodies. The measurement of ADAMTS-13 activity in plasma, identification of ADAMTS-13 circulating inhibitor, anti-ADAMTS-13 IgG, and ADAMTS-13 gene sequencing are crucial to the diagnosis of TTP. Plasma exchanges are the first-line treatment for acquired TTP, combined with steroids and immunosuppressive drugs. Here, we describe the case of an adolescent patient with TTP, confirmed by decreased level of ADAMTS-13 activity and an increased level of ADAMTS-13 inhibitor, who was successfully treated by plasma exchanges.

• Childhood Kidney Diseases
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• v.4 no.1
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• pp.48-56
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• 2000

Purpose: Alport SD., the most common herectitary rephriris, is a renal disease with rapid progression. Deafness, ocular abnormalities and a specific EM finding may be associated in addition to a family history. We have aralyged retrospectively. Methods: We observed 12 children with Alport syndrome who were diagnosed at Dept. of pediatrics in Kyunghee Univ., College of Medicine, from Apr. 1991 until Jun. 1999. We used four criteria for diagnosis: renal disease, family history, deafness or eye abnormalities, and a specific finding in electron microscopy Results: 2 of 12 patients had all features of the four diagnostic criteria. We could not trace an exact family history in 3 patients, and 6 patients did not exhibit deafness or eye abnormality. One could not have renal biopsy because offer chronic renal failure. Other three criteria were observed in her. The ratio of male to female observed was 1:2 respectively and the mean age of initial renal symptom was 5.6 years. 9 of 12 patients had a family history of renal disease. In the audiogram and ocular examination for 11 of 12 cases, sensorineural hearing loss was observed in 6 and ocular abnormality in 2 cases. In electron microscopic finding, irregular thickness of the capillary basement membranes with lamination of lamina densa and foot process obliteration was noted in 9 of 11 and thin basement membrane with splitting and foot process obliteration was noted in the other 2. The mean period of follow-up was 3 6/12 years. And one patient developed the chronic renal failure until now and had kidney transplantation. Conclusion: For the diagnosis of Alport syndrome, the following four diagnostic criteria are very important : renal disease, family history, deafness or eye abnormalities, and a specific finding on electron microscopy. We expect that more patients can be detected through the analysis of these characteristics.

• The Journal of the Korean bone and joint tumor society
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• v.9 no.1
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• pp.1-11
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• 2003

Purpose: To analysis of the result of the treatment of metastatic diaphyseal fracture of the humerus with closed interlocking intrameduallry nailing. Materials and Methods: Among surgically treated 29 patients with pathologic or impending fracture of diaphysis of the humeurs, 13 patients (16 cases) treated with closed intramedullary interlocking nail were selected for the study. The final result of pain relief and functional recovery was evaluated by modified rating system of Perez et al. Results: Primary cancer was diagnosed after fracture was developed in 2 patients and pathologic or impending fracture was occurred average period of 28.9 months after primary cancer was diagnosed. The main primary malignancies were multiple myeloma, lung cancer and breast cancer. Mean survival after humeral metastasis was 11.7 months. The final result was superior to fair in 13 of 16 cases, and poor in 3 cases with progression of tumor spread or distant dissemination to the ipsilateral fingers. Except the latter 3 patients and other 3 patients, who died before 3 months postoperatively, bony union was achieved in 10 cases. There were no complications related to surgery. Conclusion: Closed interlocking intrameduallry nailing is accomplished with brief operative time, small amount of bleeding and provides immediate stability with resultant early return of function to the arm. Additionally it allows early postoperative irradiation. However, some of our cases shows that intramedullary nailing can accelerate tumor spread and metastases elsewhere, so that serious consideration must be given in planning this treatment. In conclusion, the functional status before fracture, life expectancy, type of tumor and extent of involvement should be carefully considered to decide operative treatment of metastatic disease.

• Clinical and Experimental Pediatrics
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• v.46 no.11
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• pp.1118-1123
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• 2003

Purpose : Henoch-$Sch{\ddot{o}}nlein$ purpura(HSP) is a systemic vasculitis, characterized by cutaneous purpura, abdominal pain, arthralgia and renal involvement. The clinical features of HSP have been reasonably well documented but there are still many gaps in our understanding of HSP. The aim of this study was to present the clinical features of 125 children with HSP and compare them with previous reports, placing particular emphasis on clinical information. Methods : We collected the clinical data of 125 patients with acute HSP who visited Chungbuk National University Hospital from March 1992 to April 2002. Data were expressed as the mean or $mean{\pm}SD$ and statistical analysis was performed using Chi-square approximation. P<0.05 was considered as significant. Results : The patient population consisted of 87 boys and 38 girls ranging in age from one to 14 years. HSP occurs throughout the year, but this study shows seasonal skewing, with most patients presenting from fall through spring and a paucity of cases in summer. All patients had non-thrombocytopenic purpura concentrated on the buttocks and lower extremities. Purpuric lesions were also scattered on the arms and occaisionally on the face and ears, but the trunk was largely spared. A recurrence of purpura was defined as the reappearance of a rash or other symptoms following resolution of disease for at least two weeks. The mean number of recurrences was 0.51. Eighty eight patients(70.4%), 18 patients(14.4%) and 67 patients(53.6%) complained of abdomianl pain, gastrointestinal bleeding and arthralgia, respectively. Nephritis occurred in 48(38.4%) patients. Fifteen boys (17.2%) developed epididymitis. Neurologic features occurred in 13(10.4%) and two(15%) of these were seizures. Conclusion : HSP all showing purpura as defined is characterized by various clinical features, including abdominal pain, arthralgia, epididymitis and nephritis which could occur before the appearance of purpura. Therefore, we suggest that the possibility of HSP should be considered in children before invasive procedures, even if the above symptoms and signs present without purpura.

• Childhood Kidney Diseases
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• v.7 no.2
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• pp.157-165
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• 2003

Purpose : $Henoch-Sch\"{o}nlein$ purpura(HSP) is a systemic vasculitis that involves multiple organs, especially the kidney, which is the most important organ in determining the prognosis of the disease. The morbidity of HSP nephritis in adults is low and there have been little research done on its clinical course so far. Therefore, we have compared the clinical course of HSP nephritis in children and adults in Korea. Methods : We retrospectively analyzed 81 cases of HSP nephritis in children younger than 15 years of age, and 25 cases of adults older than 15 years of age who were admitted to Yonsei University Medical College Severance Hospital from Jan. 1986 to May 2003. Results : The male to female ratio was 1.5 : 1 in children and 1.3 : 1 in adults. The incidence of HSP nephritis for both age groups was found to be increased during the autumn and winter. Infection was the predisposing factor in 39 cases(48.1%) of children, 16 cases(64.0%) of adults, and drugs were the predisposing factor in 8 cases(9.9%) of children and 4 cases (16.0%) of adults. All patients initially presented with microscopic hematuria. Thirteen cases (16.0%) of children and 7 cases(28.0%) of adults initially showed proteinuria of nephrotic range. Thirty four cases(42.0%) of children and 4 cases(16.0%) of adults showed normal urinalysis after treatment. Asymptomatic urinary abnormalities were found in 41 cases(50.6%) of children and 18 cases(72.0%) of adults. Complications such as nephrotic syndrome and hypertension were found in 3 cases(3.7%) of children and 2 cases(8.0%) of adults. Three children(3.7%) and 1(4.0%) adult required dialysis or renal transplantation. Follow-up renal biopsies were performed on 21 children, of whom 10 cases(47.6%) did not show any histologic change, 9 cases(42.9%) showed low grade changes, and 2 cases(9.5%) showed high grade changes. Prognosis was gloomy when proteinuria of nephrotic range and high grade of abnormal histology were present at diagnosis, and there was no significant difference between the two groups(P<0.05) Conclusion : This study showed that there was no difference in terms of the clinical features and courses between the children and adults with HSP nephritis. Proteinuria of nephrotic range and the severity of abnormal histologic changes at diagnosis were found to be associated with a bad prognosis, therefore we recommend that patients with these features require long term follow-up and management.

• Childhood Kidney Diseases
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• v.7 no.2
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• pp.166-173
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• 2003

Purpose : The cause and pathogenesis of $Henoch-Sch\"{o}nlein$ purpura has been studied for many years but the results are disappointing. Recently the hypothesis that abnormalities involving the glycosylation of the hinge region of immunoglobulin Al(IgAl) may have an important role in the pathogenesis of $Henoch-Sch\"{o}nlein$ purpura is being approved. $Henoch-Sch\"{o}nlein$ purpura is the most common vasculitis Ihat affects children and the prognosis is good. But if kidney invovement occurs, the course may be chronic and troublesome. So we evaluated children with $Henoch-Sch\"{o}nlein$ purpura especially from the point of epidemiology and clinical manifestations. Methods : Investigation of 124 children who were diagnosed with $Henoch-Sch\"{o}nlein$ purpura at Inje University Ilsan Paik Hospital from December 1999 to July 2003 was performed retrospectively through chart review. Efforts were made to get informations about the profile, epidemiology, clinical manifestations, progress of the disease and recurrence rate of patients. Results : The patients were 69 boys and 55 girls, with a mean age of $6.1{\pm}2.7$ years at the time of data collection. The male to female ratio was 1.25 : 1. The occurrence rate was much higher in autumn(from September to November, 31.5%) and winter(from December to February, 28.2%) than in spring and summer, with a peak in November. Joint involvement was shown in 66.9% of patients mostly on the foot/ankle(75.9%), knee(39.8%). Seventy(56.5%) out of 124 patients had abdominal pain and 10 patients(8.1%) showed bloody stools. Renal involvement was observed in 24 patients(19.4%) after 21.1 days on the average. IgA was elevated in 10 of 21 patients(47.6%). $C_3$ and $C_4$ levels were normal in 40 of 49 patients (81.7%) and 47 of 48 patients(97.9%), respectively Antistreptolysin-O(ASO) titer was elevated over 250 Todd units in 29 of 62 Patients(46.8%). Mycoplasma antibody titer was elevated in 21 of 49 patients(42.9%) equal or greater than 1:80. Radiologic studies were peformed in 23 patients. Seven patients(30.4%) showed bowel wall thickening and one of them received intestinal resection and anastomosis operation due to terminal ileum necrosis. Eighty four patients took steroid 1.4 mg/kg/day in average. Recurrence rate was 2.5 in 37 patients(29.8%). Conclusion : $Henoch-Sch\"{o}nlein$ purpura in childhood appears most in about 6 years of age. The occurrence rate is much higher in autumn and winter relatively. Diagnosis can be made through the perspective history taking and the inspection of clinical manifestations, but the laboratory findings are not of great help. A small portion of the patients might show abdominal pain or arthritis before purpura develops, therfore various diagnosis can be made. Radiologic evaluation should be performed to avoid surgical complications in cases accompanying abdominal pain, and long term follow up should be needed especially in patients suffering from kidney involvement. In about 30% of the patients $Henoch-Sch\"{o}nlein$ purpura would recur. Steroid can be used safely without side effects.

• The Journal of the Korean bone and joint tumor society
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• v.13 no.1
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• pp.48-54
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• 2007

Purpose: To evaluate clinical results of the tumor prosthetic replacement for pathologic fracture of the proximal femur with extensive bony destruction due to metastatic bone tumors. Materials and Methods: From 2005 October to 2006 October, resection of proximal femur and tumor prosthesis replacement was performed for metastatic bone tumors extensively involving trochanteric area in 6 patients. The mean age of overall patients was 61(range, 48~77). Mean clinical follow up was 10.5 months (range, 6~16). Primary tumor consisted with multiple myeloma in 2 patients, lung cancer in 1, breast cancer in 1, transitional cell carcinoma of the renal pelvis in 1, unknown origin in 1 patient. $MUTARS^{(R)}$ proximal femur (Implantcast, Munster, Germany) were used in all cases. The functional evaluation in the lower extremities was performed with Musculoskeletal Tumor Society 1993 scores. The degree of pain relief after surgical treatment was assessed with Visual Analogue Scale (VAS). Results: At the final follow up, all of the patients survived. The mean lower extremities functional score of Musculoskeletal Tumor Society 1993 was 17.8(59.3%)(range, 12~25). VAS was improved to 2.5 from 8.5 after the surgical treatment. Ambulation was encouraged as soon as possible and mean duration after surgery for ambulation was 7.3(range, 3~16) days. Post-operatively, there was no surgical infection, periprosthetic fracture or loosening. Dislocation occurred in one out of six cases. Conclusion: Resection of proximal femur and tumor prosthesis replacement for metastatic bone tumors around proximal femur extensively involving trochanteric area seems to be safe procedure in view of post-operative complication, and effective for functional restoration as well as pain relief. Thus, it is accordant to the treatment principle of the metastatic bone tumors.

• Pediatric Infection and Vaccine
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• v.5 no.2
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• pp.221-229
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• 1998

Purpose : The symptom of urinary tract infection in children is non-specific and systemic compared to that of adults. So the diagnosis of UTI in children can be delayed. If UTI in children is not appropriately managed, it may he resulted in renal failure, hypertension, growth failure in adolescence because there are already documented renal scar or urinary tract abnormality in infection period. Especially upper UTI that involve renal parenchyme may be result in fatal complication. The purpose of this study is analyzing the relationship between acute reactive marker and $^{99m}TC$-DMSA renal scan in upper urinary tract infection. Methods : This study included 56 children admitted at Dankook University Hospital Pediatric Department in Jan. 1995~May. 1998. We analyzed quantatively the results of acute reactive marker(CRP, ESR, WBC), pyuria, fever and compared to those of sonographically find ing and $^{99m}TC$-DMSA renal scan. Comparison between groups were performed by the chi-square (x2) test and a p value of less than 0.05 was considered statistically significant. Results : 1) The number of boys less than 1 year of age was larger than that of girls. But the number of boys more than 1 year of age was reversed. 2) The higher me level of reactive marker (CRP, WBC), the more the probability of upper UTI. 3) The higher fever, the more the probability of upper UTI. 4) The more pyuria, the more probability of upper UTI. 5) The more higher the grade of vesicoureteral reflux, the more probability of upper UTI. 6) $^{99m}TC$-DMSA renal scan is more sensitive and more specific diagnostic tool than renal sonogram. Conclusion : The appearance of an abnormal $^{99m}TC$-DMSA renal scan is correlated with acute reactive marker (CRP, ESR, WBC), fever, pyuria. $^{99m}TC$-DMSA renal scan can be a good valuable predictor tool in upper UTI. So we can start early treatment and decrease the incidence of complication of upper urinary tract by above indicators before knowing the result of urine culture. And we can follow up the patients in more good relationships with their parents by telling them the duration of treatment and follow-up plan.