Seo, Hyun Ji;Lee, Ji Hye;Lee, Heung Kyo;Jung, Seung Hee;Lee, Kun Soo
Clinical and Experimental Pediatrics
/
v.48
no.12
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pp.1317-1323
/
2005
Purpose : This study was performed to evaluate the recent frequency of karyotypes in different sex chromosome abnormalities and to evaluate the age and clinical manifestations at diagnosis. Methods : Peripheral blood leukocytes were obtained from subjects who were clinically suspected to have sex chromosome abnormalities and referred to the cytogenetic laboratory in the Department of Pediatrics, Kyungpook National University Hospital from February 1981 to August 2001. Results : The relative frequencies of different sex chromosome abnormalities were Klinefelter(52 percent), Turner(42 percent), XXX syndrome(3 percent) and mixed gonadal dysgenesis(3 percent). The populations of different karyotypes in Klinefelter syndrome were 47,XXY(97 percent) and 46,XY/47,XYY(3 percent). The populations of different karyotypes in Turner syndrome were 45,X(67 percent,), mosaicism(23 percent), and structural aberrations(10 percent). The populations of different karyotypes in XXX syndrome were 47,XXX(67 percent,) and 46,XX/47,XXX(33 percent). All mixed gonadal dysgenesis were 45,X/46,XY. Eighty one percent of sex chromosome abnormalities was diagnosed after puberty. Patients diagnosed with Klinefelter and Turner syndrome in infancy showed nearly normal phenotypes or had minor congenital malformations. Conclusion : Early diagnoses of sex chromosome abnormalities is required to prevent associated morbidities and to maximize growth and development. We have to pay careful attention in diagnoses of Turner syndrome because of the high proportion of mosaicism and structural aberrations.
Purpose : Since 1998, school urinary screening tests have been performed on Korean school children. We could detect and treat so many asymptomatic chronic renal disease in early stage. We investigated the efficacy of school urinary screening tests from children with membranoproliferative glomerulonephritis (MPGN) type I. Methods : We analyzed the characteristics and prognosis of 18 patients with MPGN type I who admitted after 1996 and received steroid therapy with or without cyclosporine. These patients were divided into two groups. Group A (asymptomatic patients detected by school urinary screening tests) consisted of 7 patients; Group S (symptomatic patients) consisted 11 patients. Results : Mean follow-up duration was 6.3 years (from 2 to 11 years). Urinary protein excretion was 1.1 g/day in group A and 6.6 g/day in group S. 24 hour creatinine clearance (mL/min/$1.73m^2$) was 134.3 in group A and 82.3 in group S. No patients in group A had renal insufficiency, but three patients in group S had renal insufficiency and one patient required peritoneal dialysis. Conclusion : Early detection by school urinary screening tests improves prognosis of MPGN type I.
Ko Myoung Jin;Yang Tae Jin;Kim Young Ju;Chung Woo Yeong
Childhood Kidney Diseases
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v.5
no.1
/
pp.1-8
/
2001
Purpose : Clinical manifestations and pathologic findings of thin glumerular basement membrane disease, recognized as a common underlying disease of benign, familaiar and asymptomatic hematuria has not been reported systemically in Korera. We analyzed clinical and pathologic findings of patients who were diagnosed as thin glomerular basement membrane disease Methods : We analyzed clinical and pathologic findings of twenty-six patients who were diagnosed as thin glomerular basement membrane disease by renal biopsy among who complained asymptomatic hematuria from 1990 to 2000. Results : The subjects were aged 9.4${\pm}$3.2 (3.0-15.8) years-old at onset of hematuria, and 11.1${\pm}$2.2 (4.7-16.3) years-old at renal biopsy. Sexual discrepancy was more common in girls (eight boys and eighteen girls). A family history of hematuria was found in 8 patients(30.7$\%$). Major clinical manifestation on admission was microscopic hematuria according to the findings of 3case(11.5$\%$) of gross hematuria, 23cases(88.5$\%$9) of microscopic hematuria, and 1 case(3.8$\%$) of proteinuria. Microscopic hematuria persisted in all cases. Kidney biopsy showed few changes by light microscopy, but IgM, C3 and fibrinogen deposit in mesangium was found by immunofluorescent microscopy in a few cases. Electron microscopic findings have revealed thinning of the glomerular basement membrane varied from 180.9${\pm}$35.8nm. Conclusion : Thin glomerular basement membrane disease might be a common cause of microscopic hematuria of children and family history was revealed in about 30$\%$. Clinical progression was good in majorities.(J. Korean Soc Pediatr Nephrol 5 : 1-8, 2001)
Hong In-Hee;Lee Jun-Hwa;Go Cheol-Woo;Kwak Jung-Sik;Koo Ja-Hoon
Childhood Kidney Diseases
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v.3
no.2
/
pp.153-160
/
1999
Purpose : Present study was undertaken to find out significance of clinical presentation, initial laboratory data and renal biopsy findings on subsequent clinical course of IgA nephropathy in children. Methods : Clinical and laboratory data were analysed retrospectively from 60 children who have been admitted to the Pediatric Department of Kyungpook National University Hospital for the past 11 years and diagnosed as IgA nephropathy. Renal biopsy findings were graded according to the pathologic subclass proposed by Haas. Results : Pathologic grading according to Haas subclassification showed 10 cases in subclass I, 36 in II, 12 in IV and 2 in V and none in subclass II. Sex distribution showed male predominance (male to female ratio = 3 : 1) and mean age at onset of disease was $10.4{\pm}2.8$ years. Episodes of gross hematuria was seen in 71.7% and IgA level increased in 28.3% of children and these were not associated with pathologic grading nor clinical outcomes. With increasing subclass grading, serum protein and albumin decreased and 24 hours urinary protein excretion increased. Normalization of urinalysis (disappearance of hematuria) was seen in 14% at 1-2 years and 37.1% at 3-4 years of follow up period. In 3 cases, renal function deteriorated progressively and they belonged one each to the Haas subclass III, IV and V. Conclusion : In children with IgA nephropathy, progression to chronic renal failure appears to be quite high and pathologic grading according to Haas' subclassification seems to predict patient's outcome faily well. However, firm conclusion cannot be drawn from present study due to the small numbers of patients and short follow-up period. Therefore further multicenter study involving larger numbers of patients and longer periods of follow-up over 10 years was to be undertaken.
Cho Hee-Yeon;Chung Dae-Lim;Kang Ju-Hyung;Ha Il-Soo;Choi Yong;Cheong Hae-Il
Childhood Kidney Diseases
/
v.8
no.2
/
pp.176-185
/
2004
Purpose: Rapidly progressive glomerulonephritis (RPGN) is a clinicopathologic entity characterized by extensive crescent formation and rapid deterioration of renal function within few months. For better understanding of its clinical course and designing better treatment strategies, a clinicopathological study of childhood RPGN was performed. Methods: The clinical manifestations and pathological findings were reviewed retrospectively in 12 children who were diagnosed as having RPGN by clinical manifestations and renal biopsy during a period from 1991 to 2003. Several clinicopathological parameters were analyzed as prognostic factors. Results: Among a total of 12 patients, 4 were male and 8 were female. The median onset age was 11.5 years(range 5.5-14.6 years), and the median period of follow-up was 25 months(range 7 months-6.6 years). According to the pathological classification, 10 patients (83%) were type II RPGN(immune-complex mediated glomerulonephritis), 2 patients were type III RPGN(pauci-immune glomerulonephritis), and none was type I RPGN(anti-glomerular basement membrane nephritis). All patients were treated with oral steroid in various combinations with methylprednisolone pulse therapy(10 patients, 83%), cyclophosphamide(8 patients, 67%), or plasmapheresis(4 patients, 33%). Clinical outcomes of 12 patients were complete remission in 1(8%), end-stage renal disease in 2(17%), chronic renal insufficiency with persistent proteinuria in 2(17%), and normal renal function with persistent proteinuria in 7(58%) at the last follow-up. Poor prognosis is associated with increased serum creatinine level, severe anemia and younger age at the time of diagnosis. Conclusion: Immune-complex mediated glomerulonephritis is the major cause RPGN in children and most cases showed improvement of renal function with aggressive management. For better understanding of this rare disease, a prospective multicenter study should be done.
Choi Hyun Jin;Cho Hee Yeon;Kim Eo Jin;Lee Byong Sop;Kang Hee Gyung;Ha Il Soo;Cheong Hae Il;Choi Yong
Childhood Kidney Diseases
/
v.9
no.2
/
pp.183-192
/
2005
Purpose : The long term disease course and prognostic factors were evaluated in childhood Henoch-$Sch{\ddot{o}}nlein$ puruura nephritis(HSPN). Methods : A total of 75 children(44 boys and 31 girls) with HSPN were included in this study. The onset age was $8.0{\pm}3.1$ years(2.3-l5.3 years), and the follow-up period was $4.3{\pm}3.6$ years(1.0-17.1 years). Kidney biopsy was done in 24 children(32$\%$). Initial clinical and laboratory findings were evaluated. In addition, polymorphisms of the renin angiotensin system(RAS) genes(insertion/deletion in intron 16 of ACE gene, M235T in AGT gene, and A1166C in AGTR gene) were analysed. The initial and last clinical states were classified into 4 groups as follows A, normal; B, minor urinary abnormalities; C, active renal disease (nephrotic-range proteinuria and/or hypertension with serum creatinine $\leq$1.5 mg/dL); D, renal insufficiency. Results : At the onset, the clinical states of the patients were B in 26(35$\%$), C in 46(61$\%$), and D, in 3(4$\%$). The distribution of the RAS gene polymorphism of HSPN were not different from that of 100 healthy control subjects. At the last follow-up, the clinical states of the patients were A in 23(31$\%$), B in 38(50$\%$), C in 9(12$\%$), and D in 5(7$\%$). A multiple logistic regression identified age at the onset and initial urine protein excretion as significant prognostic factors. Analysis of genotypes of the 3 RAS genes as prognostic values revealed no statistical significance. Conclusion : Older age at onset and severe proteinuria were identified as poor prognostic factors of childhood HSPN. Implication of the RAS gene polymorphism In HSPN could not be validated in this small-scale retrospective study. (J Korean Soc Pediatr Nephrol 2005;9:183-192)
Kim, Chang-Woo;Cho, Min-Hyun;Ko, Cheol-Woo;Koo, Ja-Hoon;Kwak, Jung-Sik
Childhood Kidney Diseases
/
v.6
no.1
/
pp.48-55
/
2002
Purpose: Thin glomerular basement membrane nephropathy (TGBMN) is recognized as the leading cause of microscopic hematuria in both children and adults. However thinning of glomerular basement membrane (TCBM) has been found in healthy adult and also is known to be associated with various renal diseases such as Alport syndronh, IgA nephropathy and mesangial proliferative glomerulonephritis. The association of TGBM with minimal change nephrotic syndrome (MCNS) has been very rare so that the present study was undertaken to determine the relationship between TGBM and MCNS. Methods: The study population consisted of 49 children with biopsy- proven MCNS who have been admitted to the pediatric department of Kyungpook University Hospital during the past 5 years from 1997 to 2001. Group I consisted of 8 children associated with TGBM and Group II 41 children without TCBM. Various parameters such as age of illness, duration from discovery of illness to the time of biopsy, family history of hematuria and other laboratory tests were compared between these two groups and the following results were obtained. Results: Age distribution showed slightly older age in Group I ($7.1{\pm}3.5$ years) compared to Group II ($4.8{\pm}2.9$ years). However this was not statistically different (P=0.056). Family history of hematuria was noted in 2 cases in Group II. Though statistically not significant, hematuria was seen in 2 out of 8 cases ($25\%$) in MCNS children with TGBM, compared to 7 out of 41 cases ($17\%$) with MCNS children without TGBM. Other parameters such as BUN, creatinine, 24 hours urine protein excretion, serum protein, albumin, cholesterol, and T4/T8 ratio, showed no difference. Also renal biopsy finding showed no significant difference and the thickness of glomerular basement membrane in Croup I was $188{\pm}30nm$. Conclusion: TGBM was found in 8 out of 49 children with MCNS ($16.3\%$). And this high frequency of occurrence indicates that these association is not an incidental findings. Typical clinical findings of TCBMN was not noted in all of the 8 children with MCNS associated with TGBM, suggesting that thinning of glomerular basement membrane (TCBN) is secondary to rather than the cause of MCNS. (J Korean Soc Pediatr Nephrol 2002;6: 48-55)
Purpose : This study was performed to report the diagnosis and treatment of nephrotic syndrome manifesting in the first year of life. Methods : We retrospectively reviewed the clinical data with chart review in 7 patients who were diagnosed as nephrotic syndrome manifesting in the first year of life from 1996 to 2007. Results : Three patients had congenital nephrotic syndrome, the other 4 patients had infantile nephrotic syndrome. Their ages ranged from birth to 11 months and male to female ratio was 1 to 6. Renal biopsies were done in 6 patients. One patient had Finnish type congenital nephrotic syndrome, 2 patients had diffuse mesangial sclerosis, 2 patients had focal segmental glomerulosclerosis and 1 patient had minimal change disease. Genetic analyses of NPHS2, PLCE1, and WT1 were done in 4 patients and 2 of them had WT1 mutation. Among 3 patients with congenital nephrotic syndrome, 1 patient was diagnosed as congenital nephrotic syndrome of Finnish type and the other 2 patients were diagnosed as Denys-Drash syndrome. All of the patients with congenital nephrotic syndrome died due to sepsis. Among 4 patients with infantile nephrotic syndrome, 2 patients died and 1 had remission, another patient progressed to end stage renal disease. Conclusion : Most of nephrotic syndrome manifesting in the first year was hereditary renal disease. Patients with nephrotic syndrome manifesting in the 3 month of life had poorer prognosis and needed more aggressive management including early dialysis and renal transplantation might be considered compared with infantile nephrotic syndrome. Further genotype-phenotype correlation studies are needed.
Purpose : The proliferative nuclear antigen Ki-67, present in all cell cycle phases except G0, is a useful marker for the detection of proliferative cells in vivo. MIB I has been found to recognize an antigen in formalin-fixed and wax-embedded material. The aim of this study was to assess the efficacy of MIB-1 expression as a marker of representing the status of mesangial cell proliferation in renal tissues. Methods : Immunohistochemical staining for Ki-67 Ag using monoclonal antibody MIB-1 (Immunotech,505) were performed in 41 renal tissuses which were obtained by percutaneous renal biopsy done between January 1994 and December 1996. Results : In both glomeruli and renal tubules, MIB-1 expression was observed only in 2 of 18 ($11.1\%$) cases of IgA nephropathy, in 2 of the 4 ($50\%$) cases of mebranoproliferative glomerulonephritis, in 4 of the 5 ($80\%$) cases of poststreptococcal glomerulonephritis. But MIB-1 expression was not detected in all cases of minimal lesion and membranous nephropathy. Renal tubules In another 7 cases of IgA nephropathy were MIB-1 positive. Conclusion : MIB-1 expression in renal tissues may relate to the cell proliferation in glomeruli and renal tubules. But the efficacy of MIB-1 expression as a marker of mesangial cell proliferation may reveal a limited value because of it's lower positive rate in IgA nephropathy.
Park Jae-Hyun;Kim Pyung-Kil;Jeong Hyeon-Joo;Choi In-Joon
Childhood Kidney Diseases
/
v.1
no.1
/
pp.17-23
/
1997
After the first description of IgA nephropathy by Berger in 1968, the prognosis of this disease was considered favourable. However recent studies have revealed that IgA nephropathy result in end stage renal desease in 25-30% by 20 years. Heavy proteinuria, hypertension, histological high class are regarded as poor prognostic factors. In 1996, Yagame et al reported the new histopathologic grading with a strong correlation between the grading, heavy proteinuria, high s-Cr level and renal survival. The aims of this study are to determine whether the pathological grading and other clinical parameters could contribute to predicting the outcome of this disease eventhough pediatric patients. Seventy nine patients (59 males, 20 females) with IgA nephropathy were examined. Patients were 2.08-15.17 years of age ($9.85{\pm}2.83$). The mean follow-up duration were $27{\pm}28$ months. Six of seventy nine patients progressed to chronic renal failure during the follow-up periods. High 24h urinary protein excretion at diagnosis were significantly higher in chronic renal failure patients (p<0.05). Hypertension at diagnosis were the significant associated factors in progression of chronic renal failure (p<0.05). Histological changes of IgA nephropathy in light microscopy were classified into five classes by WHO classification, four grades in Yagame's gradings. Among the seventy nine patients, 24 were as class 1, 30 as class 2, 23 as class 3; 4 as class 4, 0 as class 5 by WHO classification. 23 were classified grade 1, 31 as grade 2, 24 as grade 3, 1 as grade 4 by Yagame's grading. Among six patients who progressed to chronic renal failure, 1 clssified as class 1, 1 as class 2, 3 as class 3, 1 as class 4, 0 as class 5 by WHO Classification. 1 patients were classified as grade 1, 1 as grade 2, 3 as grade 3, 1 as grade 4 by Yagame's grading. (p>0.05) In conclusion, hypertension and heavy proteinuria at initial presentation were significantly associated with progression of chronic renal failure. The classification of WHO & Yagame's grading has no significant association with the progression of chronic renal failure in pediatric patients.
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