• Childhood Kidney Diseases
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• v.7 no.1
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• pp.67-72
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• 2003

Alport syndrome is the most common type of hereditary nephritis, and acute poststreptococcal glomerulonephritis(APSGN) is a common disease in children. We experienced the clinical and pathologic findings of Alport syndrome and APSGN in brothers of one family. Both patients presented with heavy gross hematuria and proteinuria. ASO titer was elevated in both cases, and the C3 level was reduced in one of the cases. In renal pathology, both showed characteristics of Alport syndrome as well as the glomerular changes of APSGN with hump-like subepithelial deposits by electron microscopy. These clinical observation indicated that the patients had APSGN superimposed on Alport syndrome, and that the episode of APSGN might exacerbate the clinical course of Alport syndrome.

• Childhood Kidney Diseases
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• v.5 no.2
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• pp.164-175
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• 2001

Purpose : Alport syndrome is a hereditary nephrotic disease characterized by progressive nephrotic symptom, sensorineural hearing loss, ophthalmic abnormality, typical microscopic findings, and familial occurrence. In this study, we tried to find the risk factors related with its prognosis by taking a close observation on clinical symptoms of children with Alport syndrome reviewing retrospectively. Materials & methods : We chose children diagnosed as Alport syndrome in renal biopsy during 20 years(from 1980, Jan. until 1999, Dec.) who could receive follow up studies in tile department of pediatrics. They were divided into two groups by comparing renal function at the time of diagnosis and at current status. We compared several clinical aspects in them, and applied nonparametric test for statistical analysis. Results : The sex ratio(male:female) of 24 children was 3:1. The most common clinical symptom presented at their first visit was gross hematuria. Among those 24 children, 11 cases($46\%$) of progressing into chronic renal failure(Group II) were observed. Hypertension, proteinuria and edema were seen much frequently in group II. The level of serum protein, albumin, and creatinine clearance were decreased while BUN, creatinine were relatively increased. All the results were statistically significant. Conclusion Clinically significant risk factors related to prognosis in Alport syndrome were the presence of hypertension, edema, and proteinuria at the time of diagnosis. Also, the level of serum protein, albumin, BUN, creatinine, and glomerular filtration rate were proved to be important factors in predicting prognosis. We believe that studies on these possible risk factors would be of great help in treating and predicting prognosis of children suffering with Alport syndrome. (J Korean Soc Pediatr Nephrol 2001;5 : 164-75)

• 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.

• Clinical and Experimental Pediatrics
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• v.45 no.9
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• pp.1160-1164
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• 2002

We report a case of Alport syndrome associated with esophageal leiomyomatosis, presenting as recurrent pneumonia. A 5-year old girl who had a history of cataract visited the out patient clinic with a complaint of recurrent wheezing and respiratory difficulty which had started five months previously. Chest magnetic resonance image(MRI) and esophagography, checked on the suspicion of achalasia, revealed esophageal leiomyomatosis and renal biopsy revealed Alport syndrome. In the pediatric population, this tumor is a rare cause of dysphagia and is often misdiagnosed as an esophageal motility disorder. Although a number of Alport syndrome associated with leiomyomatosis were reported in the literature, this is a second case report presented with recurrent pneumonia in Korea.

• Childhood Kidney Diseases
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• v.8 no.1
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• pp.18-25
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• 2004

Purpose : Alport syndrome is clinically characterized by hereditary progressive nephritis causing ESRD with irregular thickening of the GBM and sensory neural hearing loss. The mutations of type IV collagen gene(COL4A5) located on the long arm of X chromosome is considered responsible for most of the structural abnormalities in the GBM of Alport patients. Since no definite clinical prognostic predictor has been reported in the disease yet, we designed this study to evaluate the significance of genetic polymorphism of the angiotensin converting enzyme in children with Alport syndrome as a prognostic factor for disease progression. Methods : ACE I/D genotype were examined by PCR amplification of the genomic DNA in 12 patients with Alport syndrome and 12 of their family members. Alport patients were divided into two groups; the conservative group, those who had preserved renal function for more than 10 years of age, the early CRF group, those who had progressed to CRF within 10 years of age. Results : The mean age of onset was $3.45{\pm}2.4$ years in the conservative group, $4.4{\pm}1.2$ years in the early CRF group. Sex ratios were 5:3 and 2:1 in each group. Among 12 cases of patients, 4 cases were in early CRF group and their mean duration of onset to CRF was 4.5 yews(8.9 years of age). Eight patients(67%) were in the conservative group and they had normal renal function for more than 10 years of age(mean duration of renal preservation was 10.6 years). The incidence of II type ACE gene were in 25.0%(3 cases), ID type in 41.7%(5 cases), DD type in 33.3%(4 cases). There was no significant difference between Alport patient and normal control(II type 44.3%, ID type 40.9%, DD type 14.8%). The incidence of DD type of early CRF group were higher than that of the conservative group(75% vs 12.5%)(p<0.05). There was no difference in ACE gene polymorphism between normal Alport family members and control group. Conclusion : Even though there was no significant difference of ACE polymorphism between Alport patients and the normal control group, the incidence of DD type is significantly increased in early CRF group which means DD type of ACE polymorphism has a possibility of being a predictor for early progression to CRF in Alport patients.

• Childhood Kidney Diseases
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• v.14 no.1
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• pp.22-31
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• 2010

Purpose : This study was performed to evaluate the relationship between glomerular basement membrane (GBM) alterations to epithelial cell (EpC) structure and renal function in Alport Syndrome (AS) patients. Methods : Fifteen patients diagnosed with AS (4-26yrs) were examined. The GBM in AS was categorized as : C1) normal, C2) minor alterations (widening of lamina rara interna or externa without lamina densa change), C3) nonspecific splitting of lamina densa, C4) basket-weaving pattern of lamina densa splitting. The length of each GBM portion along the epithelial side was measured on the systematically obtained electron microscopic photographs. Furthermore to obtain an objective assessment of the degree of glomerular EpC foot process change, the number of slit pores along $10\;{\mu}m$ of peripheral GBM in each category was obtained. Results : The percentage of normal GBM portion (C1) correlated inversely with daily protein excretion (g/day/$m^2$, P<0.05) and sum of the percentage of abnormal GBM portion (C2+C3+C4) had direct correlation with daily protein excretion (g/day/$m^2$, P<0.05). There were no significant relationships between the percentages of other categories of GBM alterations and creatinine clearance or protein excretion. There were no significant relationships between of creatinine clearance in relation to normal GBM(C1) portion as well as that in relation to sum of the percentage of abnormal GBM portion (C2+C3+C4). GBM abnormality did not correlate with age at biopsy. Conclusion : The extent of GBM structural abnormality is related to proteinuria in AS but the epithelial response is uniform even though the GBM ultrastructural lesions are not.

• Childhood Kidney Diseases
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• v.4 no.1
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• pp.25-32
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• 2000

Purpose: This retrospective study of 126 children with symptomless primary hematuria was undertaken to determine the distribution of various histologic types by renal biopsy, clinical outcome according to the biopsy findings and also to find out feasibility of performing renal biopsy in these children. Patients and Methods : Study population consisted of 126 children with symptom-less primary hematuria who have been admitted to the pediatric department of Kyung-poot National University Hospital for the past 11 years from 1987 to 1998 and renal biopsy was performed percutaneously. Hematuric children with duration of less than 6 months, evidences of systemic illness such as SLE or Henoch-Schonlein purpura, urinary tract infection, and idiopathic hypercalciuria were excluded from the study. Results : Mean age of presentation was 9.2${\pm}$3.3 years (range ; 1.5-15.3 years) and male preponderance was noted with male to female ratio of 2:1. IgA nephropathy was the most common biopsy finding occuring in 60 children ($47.6\%$), followed by MsPGN in 13 ($10.3\%$), MPGN in 5 ($3.9\%$), TGBM in 6 ($4.7\%$), Alport syndrome in 2 ($1.6\%$), FSGS in 1 ($0.8\%$), and in 39 children ($30.9\%$), 'normal' glomeruli were noted. Recurrent gross hematuria was more common than persistent microscopic hematuria (84 versus 42), and especially in IgA nephropathy, recurrent gross hematuria was the most prevalent pattern of hematuria. In 58 out of 126 cases ($46.0\%$), hematuria was isolated without accompa-nying proteinuria and this was especially true In cases of MsPGN and 'normal' glomer-uli by biopsy finding. Normalization of urinalysis (disappearance of hematuria) in IgA nephropathy, MsPGN and 'normal' glomuli group were similar and it was $14\%,\;27\%\;and\;21\%$ respectively during 1-2 years of follow-up period, and $37.1\%,\;40\%\;and\;35\%$ respectively during 3-4 years of follow-up periods. However, abnormal urinalysis persi-sted in the majority of children with MPGN, TGBM. Alport syndrome and FSGS. Renal function deteriorated progressively in 6 cases (3 with IgA nephropathy, 2 with Alport syndrome and 1 with TGBM). Conclusion : In summary, present study demonstrates that in 126 children with symptomless primary hematuria, IgA nephropathy was the most common biopsy findings followed by MsPGN, MPGN, TGBM, Alport syndrome and FSGS, and 'normal glomeruli' was also seen in 39 cases ($30.9\%$). Renal histology could not be predictable on the clinical findings, so that to establish appropriate long-term planning for these children, we would recommend to obtain precise histologic diagnosis by renal biopsy.

• Childhood Kidney Diseases
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• v.1 no.2
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• pp.136-143
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• 1997

Purpose : To evaluate the prevalence and clinical manifestations of various glomerulonephritis(GN) in children with asymptomatic urinary abnormalities, a clinicopathological analysis of 134 biopsied cases which were subdivided into 3 groups of proteinuria with hematuria, isolated hematuria and isolated proteinuria was done. Methods : We conducted retrospective study with review of histopathologic findings and clinical manifestations of the 134 cases with asymptomatic urinary abnormalities diagnosed by percutaneous renal biopsy which were done between January 1986 and December 1996 at department of pediatrics, Pusan Paik hospital. Results : 1) The proportion of children with asymptomatic urinary abnormalities was 43.2% of all biosied cases. 2) Among these, primary GN were 95 cases and secondary GN were 39 cases, it's ratio was 2.44:1. As a whole, the most common pathologic diagnosis was IgA nephropathy(IgAN, 26.9%), which was followed by $Henoch-Sch\"{o}nlein$ purpura nephritis(HSPN, 17.9%), minimal change lesion(MC, 17.2%), thin GBM disease(12.7%), Hepatitis B associated glomerulonephritis(HBGN, 6.0%), poststreptococcal glomerulonephritis(PSAGN, 3.0%), mesangial proliferative glomerulonephritis(MesPGN, 2.2%), membranoproliferative glomerulonephritis (MPGN, 2.2%), Alport syndrome (1.5%) and Fibrillary nephritis(0.7%). 3) In proteinuria with hematuria, the most common pathologic diagnosis was IgAN(34.6%), which was followed by HSPN(19%), MC(17.7%), thin GBM disease(8.9%), HBGN(6.3%), PSAGN(3.6%), MesPGN(1.2%), MPGN(1.2%) and Alport syndrome(1.2%). 4) Major causes of isolated hematuria were thin GBM disease(19.6%), IgAN(17.6%), HSPN(17.6%), MC(11.8%). 5) Isolated proteinuria was due to of 3 cases of MC and 1 case of HBGN. Conclusion : The prevalence of glomerulonephritis with asymptomatic urinary abnormalities in children were 43.2% of all biopsed cases. When these children were subdivided into 3 groups, proteinuria with hematuria was accounted 58.9%(79 cases) and then isolated hematuria was 38.1%(51 cases), isolated proteinuria was only 3%(4 cases) respectively. The most common pathologic diagnosis was IgA nephropathy in patient with proteinuria and hematuria, and thin GBM disease in patient with isolated hematuria.

• Childhood Kidney Diseases
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• v.2 no.1
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• pp.26-33
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• 1998

This retrospective study was designed to evaluate the prognostic value and histologic correlation of sonography in childhood nephrotic syndrome. Sixty-nine patients with proteinuria over 2g per day at the time of presentation who were treated at the Korea University Hospital were included in this review. They were 1 to 15 years old(mean age, 7.8 years) with 49 males and 20 females. In each patient an ultrasound examination was done using SPA 1000(Diasonics, C.A., U.S.A.) on admission. Tissue specimens were obtained from 46 patients. The paraffin-embedded specimens were reviewed with special reference to interstitial edema, interstitial fibrosis, tubular atrophy, global sclerosis or inflammatory cell infiltrates. Biopsy proven renal disease were minimal change disease(n=20), focal segmental glomerulosclerosis(n=7), membranous glomerulonephritis(n=2), membranoproliferative glomerulonephritis(n=1), $Henoch-Sch\"{o}nlein$ purpura nephritis(n=6), IgA nephropathy(n=5), poststreptococcal glomerulonephritis(n=2), systemic lupus erythematosus(n=1) and Alport syndrome(n=2). There was a significant relationship between increased cortical echogenicity and global sclerosis or tubular atrophy(P<0.05). But no significant relationship was found between increased cortical echogenicity and interstitial fibrosis, interstitial edema, or inflammatory cell infiltration. In biopsy-proven primary nephrotic syndrome(n=30), no significant relationship was found between the increased conical echogenicity and the interstitial edema, interstitial fibrosis, global sclerosis, tubular atrophy or inflammatory cell infiltration. But there was a significant relationship between increased cortical echogenicity and resistance to corticosteroid (P<0.05). These results suggest that increased cortical echogenicity may be due to tubular atrophy or global sclerosis in patients with proteinuria and may be an effective indicator of resistance to corticosteroid in primary nephrotic syndrome.(J Korean Soc of Pediatr Nephrol 2:26-33, 1998)

• Journal of the Korean Arthroscopy Society
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• v.6 no.2
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• pp.195-199
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• 2002

This article is to report a new technique for reconstruction of the anteromedial and posterolateral bundles of anterior cruciate ligament by separate tensioning and fixation of the each bundle. Method : Tibial and femoral tunnels were made with conventional technique of anterior cruciate ligament reconstruction. Tibial tunnel was enlarged $5\~7$ mm in anterior-posterior direction to make oval it in cross section. When preparing the Achilles tendon allograft, bone plug portion was trimmed as the conventional technique. The tendinous portion was trimmed as two separate bundles by dividing the tendinous portion longitudinally, so the graft is shaped like 'Y'. The bone plug portion of allograft was inserted into the femoral tunnel and fixed with absorbable cross pins. Two ligamentous portionss of the distal part of the grafts were tensioned separately at the external orifice. Anteromedial bundle was fastened under maximum tension with the knee flexed 90 degrees by post-tie method. The posterolateral bundle was fixed by the same technique with the knee in full extension. Then, an absorbable interference screw was inserted between the two bundles upto the upper end of the tibial tunnel, to get more initial rigidity of the reconstructed graft as well as to locate the two bundles in more anatomic position.