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Min Jee JEOUNG ; Hyung Eun YIM ; Kee Hwan YOO ; Young Sook HONG ; Joo Won LEE ; Soon Kyum KIM

Journal of the Korean Society of Pediatric Nephrology.2004;8(1):57-62.

Schinzel-Giedion syndrome is a rare, distinct dysmorphic syndrome characterized by congenital hydronephrosis, skeletal dysplasia, and severe developmental retardation, likely to be inherited as an autosomal recessive trait, but not yet confirmed. This syndrome is characterized by coarse facial features such as midfacial retraction, bulging forehead, short nose with anteverted nostrils, low-set malformed ears, protruding large tongue, and hypertelorism. Skeletal and limb defects, choanal stenosis, simian creases, hypospadias, microphallus, hypertrichosis, and intractable seizures are the frequently associated clinical findings. Urogenital involvement is a major component of the syndrome, and this problem sometimes is associated with nephrocalcinosis and urinary tract infection in the clinical course of the disease. We report a 22 month-old girl with Schinzel-Giedion syndrome complicated by medullary nephrocalcinosis and urinary tract infection due to Klebsiella pneumoniae. This patient had also been suffering from postnatal growth deficiency, intractable seizure, spastic tetraplegia, delayed development and severe mental retardation.
Constriction, Pathologic ; Ear ; Extremities ; Female ; Forehead ; Humans ; Hydronephrosis ; Hypertelorism ; Hypertrichosis ; Hypospadias ; Infant ; Intellectual Disability ; Klebsiella pneumoniae ; Male ; Nephrocalcinosis ; Nose ; Quadriplegia ; Seizures ; Tongue ; Urinary Tract Infections

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Hypertensive Encephalopathy in a 10-year-old Boy with Ureteral Stone.

Yong Joo KIM ; Hoon Chul KANG ; Ja Wook KOO

Journal of the Korean Society of Pediatric Nephrology.2004;8(1):51-56.

Hypertensive encephalopathy is an acute neurologic syndrome that occurs in association with abrupt and marked elevation of blood pressure and is characterized by headache, vomiting, seizure, visual disturbances and altered mental status. Hypertensive encephalopathy is most commonly associated with renal disease in children, including acute glomerulonephritis, renovascular hypertension, and end-stage renal disease. Hypertensive encephalopathy associated with nephrolithiasis has not been reported. We have experienced a 10-year-old boy with hypertensive encephalopathy associated with ureteral stone.
Blood Pressure ; Child* ; Glomerulonephritis ; Headache ; Humans ; Hypertension, Renovascular ; Hypertensive Encephalopathy* ; Kidney Failure, Chronic ; Male* ; Nephrolithiasis ; Seizures ; Ureter* ; Vomiting

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Efficacy of Pamidronate in Nephropathic Children with Ongoing Long Term Corticosteroid Therapy.

Hyun Kee HONG ; Eun Seong KIM ; Sung Do KIM ; Byoung Soo CHO

Journal of the Korean Society of Pediatric Nephrology.2004;8(1):43-50.

BACKGROUND: Steroid-induced osteoporosis(SIO) is one of the serious complications of long- term steroid therapy, especially in growing children. Recently bisphosphonates have been used to treat or prevent SIO in adult, which is rare in children with glomerular diseases. We studied the effect of pamidronate on SIO using dual energy X-ray absorptiometry and biochemical markers of bone turnover. METHODS: Forty four children receiving moderate-to-high doses of steroids were enrolled. They had no history of bone, liver, or endocrine disease. Patients were stratified by their baseline bone mineral density(BMD) findings. All patients received corticosteroids for 3 month and oral calcium supplementation(500 mg/day) daily. Among them, 28 patients were treated with placebo and 16 were treated with pamidronate(125 mg) for 3 months. Blood chemistry and bone mineral density(BMD) were measured at baseline, and 3months. In addition, parathyroid hormone(PTH), serum osteocalcin, and urinary dipyridinoline levels were evaluated. RESULTS:In overall population, the mean lumbar spine BMD decreased from 0.754+/-0.211 (g/cm2) to 0.728+/-0.208(g/cm2) in the placebo group(P<0.05) and increased from 0.652+/-0.194 (g/cm2) to 0.658+/-0.226(g/cm2) in the pamidronate group(P>0.05). CONCLUSION:Pamidronate appears to be effective in preventing SIO in children with glomerular diseases requiring long-term steroids therapy. Further careful observation and follow-up might be needed for children receiving bisphosphonates such as pamidronate.
Absorptiometry, Photon ; Adrenal Cortex Hormones ; Adult ; Biomarkers ; Calcium ; Chemistry ; Child* ; Diphosphonates ; Endocrine System Diseases ; Follow-Up Studies ; Humans ; Liver ; Osteocalcin ; Spine ; Steroids

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Therapeutic Efficacy of Alendronate for Glucocorticoid Induced Metabolic Bone Disease in Children with Nephrotic Syndrome.

Ji Eun LEE ; Hyun Ok LEE ; Kyung Hoon PAIK ; Suk Hyang LEE ; Dong Kyu JIN

Journal of the Korean Society of Pediatric Nephrology.2004;8(1):33-42.

PURPOSE: Children with nephrotic syndrome(NS) are under high risk for metabolic bone disease(MBD) as a complication of long-term glucocorticoid therapy. We prospectively evaluated the effect of oral bisphosphonate(alendronate) therapy in children with NS, which has proven efficacy in adult patients with glucocorticoid induced MBD. METHODS: Among 58 children with NS, aged 5 to 8 years and having a disease duration of more than 2 years, 30(51.7%) were enrolled to meet the selection criteria, less than -1.0 Z- scores of lumbar spine bone mineral density(BMD) by dual energy X-ray absorptiometry (DEXA). These 30 children were divided into three groups and each were assigned to receive alendronate, calcitriol, and no-medication, respectively for one year. Lumbar spine BMD was followed up every 6 months and the biochemical indexes were measured before and 1 year after the treatment. There were no significant difference among groups with respect to the average age, the initial BMD, and the cumulative steroid doses. Analysis of the treatment efficacy was done by the % change of BMD and by the changes in Z-scores of lumbar spine BMD. RESULTS: Mean age and disease duration of patients at the initial lumbar spine BMD evaluation was 7.4+/-1.7 years and 2.2+/-1.2 years, respectively. Twenty-three of 30 children(76%) had osteopenia, and seven(23%) had osteoporosis. There was no difference in the biochemical values among the groups, before and 1 year after the treatment(P<0.05). Twenty two children(73.3%) with frequent relapsing or steroid dependant NS had more frequent MBD, compared to the 8 children(26.6%) with infrequent relapsing NS. The one year % changes of BMD were 8.56 in alendronate group, 5.79 in calcitriol group, and 1.9 in no-medication group. The changes in Z-score of lumbar spine BMD increased in the alendronate group and the calcitriol group, but not in the no-medication group. One year % changes of BMD were different among groups(P=0.0002). Significant differences were found between the alendronate and the no-medication group, and between the calcitriol and the no-medication group(P< 0.05). There was no difference between the alendronate and the calcitriol group. No serious adverse effect was observed in the alendronate group. CONCLUSION: Children with NS receiving high dose steroids are under the high risk of BMD and should undergo regular BMD evaluation. Z-score of lumbar spine BMD was a useful parameter in diagnosing low bone mass in children. Alendronate weekly oral therapy was effective and relatively safe in increasing the lumbar spine BMD in children with NS having steroid induced MBD.
Absorptiometry, Photon ; Adult ; Alendronate* ; Bone Density ; Bone Diseases, Metabolic* ; Calcitriol ; Child* ; Humans ; Nephrotic Syndrome* ; Osteoporosis ; Patient Selection ; Prospective Studies ; Spine ; Steroids ; Treatment Outcome

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Plasminogen Activator Inhibitor Type 1 Gene Polymorphism in Patients with Minimal Change Nephrotic Syndrome.

Young Min KIM ; Hyun Kee HONG ; Sung Do KIM ; Byoung Soo CHO

Journal of the Korean Society of Pediatric Nephrology.2004;8(1):26-32.

PURPOSE: Hypercoagulability is present in patients with nephrotic syndrome. Plasminogen activator inhibitor type 1(PAI-1) is a major inhibitor of plasminogen activators. PAI-1 inactivates both tissue plasminogen activator(tPA) and urokinase plasminogen activator(uPA) by rapid formation of inactive 1:1 stoichiometric complexes. Recently some studies showed that the enhanced PAI-1 expression may be involved in the intraglomerular fibrinogen/fibrin- related antigen deposition seen in nephrotic syndrome. METHODS: PAI-1 gene promoter -844(G/A) polymorphism was evaluated in 146 children with minimal change nephrotic syndrome(MCNS) and 230 control subjects. The patients with MCNS were subdivided into 85 infrequent-relapser(IR) group and 61 frequent relapser(FR) group. PCR of PAI-1 gene promoter region including -844(G/A) and RFLP using the restriction enzyme Xho1 were performed for each DNA samples extracted from the groups. RESULTS: The distribution of PAI-1 genotype in the control group was G/G 81(32.5%), A/A 42(16.9%), and G/A 126(50.6%). The distribution of PAI-1 genotypes in the IR group of MCNS was G/G 29(34.1%), A/A 15(17.7%), and G/A 41(48.2%). The distribution of PAI-1 genotype in the FR group of MCNS was G/G 17(27.9%), A/A 18(29.5%), and G/A 26(42.6 %). There was a significantly increased frequency of A/A genotype(P=0.0251) in the FR group of MCNS. CONCLUSION: Our results indicate that the PAI-1 gene promoter A/A genotype may be associated with the FR in MCNS.
Child ; DNA ; Genotype ; Humans ; Nephrosis, Lipoid* ; Nephrotic Syndrome ; Plasminogen Activator Inhibitor 1 ; Plasminogen Activators* ; Plasminogen* ; Polymerase Chain Reaction ; Polymorphism, Restriction Fragment Length ; Promoter Regions, Genetic ; Thrombophilia ; Urokinase-Type Plasminogen Activator

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Angiotensin Converting Enzyme Gene Polymorphism in Alport Syndrome.

Ji Hong KIM ; Jae Seung LEE ; Pyung Kil KIM

Journal of the Korean Society of Pediatric Nephrology.2004;8(1):18-25.

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+/-2.4 years in the conservative group, 4.4+/-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 years(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.
Age of Onset ; Angiotensins* ; Arm ; Child ; Collagen Type IV ; Disease Progression ; DNA ; Genotype ; Hearing Loss ; Humans ; Incidence ; Kidney Failure, Chronic ; Nephritis ; Nephritis, Hereditary* ; Peptidyl-Dipeptidase A* ; Polymerase Chain Reaction ; Polymorphism, Genetic ; Sex Ratio ; X Chromosome

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Angiotensinogen M235T Polymorphism in Children with Henoch-Schonlein Purpura Nephritis.

Chang Woo HA ; Hee Jung JOO ; Ji Kyoung PARK ; Woo Yeong CHUNG

Journal of the Korean Society of Pediatric Nephrology.2004;8(1):10-17.

PURPOSE: Henoch-Schonlein purpura(HSP) nephritis has a variable range of prevalence from 25 to 50% among HSP patients and is a common cause of chronic glomerulonephritis in children. In our study, we evaluated the distribution and the association of the angiotensinogen(AGT) M235T polymorphism with the clinical manifestations, particularly proteinuria in children with HSP with or without nephritis. METHODS: The AGT M235T polymorphism was determined in children with HSP nephritis (n=33) or HSP without nephritis(n=28) who had been diagnosed at Busan Paik hospital from January 1996 to June 2001. The M235T polymorphism of the AGT gene was determined by PCR amplification of the genomic DNA. RESULTS: The M235T polymorphism of AGT gene frequency was MM:75%, MT:25%, TT:0% in HSP and MM:64%, MT:36%, TT:0% in HSP nephritis, there was no significant differences in the genotype and allele frequencies between the two groups. No significant differences in clinical manifestations at onset and last follow-up were seen between the two genotypes. When statistical analysis was done according to the presence of the M allele, the amount of 24-hour urinary protein excretion and the incidence of moderate to heavy proteinuria(>500 mg/m2/day) at onset and at last follow-up were higher in the MT genotype than in those of in the MM genotype but these difference were not statistically significant. CONCLUSION: We suggest a lack of association between M235T polymorphism of the AGT gene and clinical manifestations in children with HSP nephritis. However, further follow-up studies based on sufficient number of patients and long term follow up periods are necessary to confirm the role of M235T polymorphism of AGT gene in children with HSP nephritis.
Alleles ; Angiotensinogen* ; Busan ; Child* ; DNA ; Follow-Up Studies ; Gene Frequency ; Genotype ; Glomerulonephritis ; Humans ; Incidence ; Nephritis* ; Polymerase Chain Reaction ; Prevalence ; Proteinuria ; Purpura, Schoenlein-Henoch*

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Effect of Tumor Necrosis Factor-Alpha on Glomerular Epithelial Cells in Glomerular Permeability.

Min Hyun CHO ; Ji Hye LEE ; Cheol Woo KO ; Ja Hoon KOO

Journal of the Korean Society of Pediatric Nephrology.2004;8(1):1-9.

PURPOSE: Minimal Change Disease (MCD) is the most common primary nephrotic syndrome in children. Some suggested that tumor necrosis factor-alpha (TNF-alpha) are involved in the pathogenesis of MCD. METHODS: This study was done to see the changes of plasma and urinary TNF-alpha, and its effect on the determination of permeability of the glomerular basement membrane (BM) contributed by heparan sulfate proteoglycan (HSPG). Study patients consisted of 19 biopsy-proven MCD children aged 2-15 years old. Both plasma and urinary TNF-alpha were measured. Employing the Millicell system, TNF-alpha was screened for the permeability factors. We examined whether TNF-alpha regulated BM HSPG gene expression and HS synthesis in the glomerular epithelial cells (GECs). RESULTS: Urinary TNF-alpha during relapse was significantly increased when compared with that of during remission or controls (364.4+/-51.2 vs 155.3+/-20.8, 36.0+/-4.5 ng/mg cr) (P< 0.05). However, negative results were obtained in the permeability assay using the Millicell system. No difference was seen in the BM HSPG gene expression and HS synthesis in the GECs. CONCLUSION: It seems that TNF-alpha may not play a disease-specific role in the pathogenesis of MCD.
Child ; Epithelial Cells* ; Gene Expression ; Glomerular Basement Membrane ; Heparan Sulfate Proteoglycans ; Humans ; Nephrosis, Lipoid ; Nephrotic Syndrome ; Permeability* ; Plasma ; Recurrence ; Tumor Necrosis Factor-alpha*

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A Case of Type I Vitamin D-dependent Rickets with Unilateral Aplasia of Kidney.

Dong Hee LIM ; Ji In JUNG ; Hyung Eun YIM ; Baik Lin EUN ; Kee Hwan YOO ; Young Sook HONG ; Joo Won LEE

Journal of the Korean Society of Pediatric Nephrology.2008;12(1):111-115.

Vitamin D-dependent rickets(VDDR) is a rare autosomal disorder, characterized by hypocalcemia, hypophosphatemia, increased alkaline phosphatase, secondary hyperparathyroidism and many other clinical features. Type I VDDR is due to congenital defects of renal 1alpha-hydroxylase, the enzyme responsible for the conversion of 25-(OH)D3 to 1,25-(OH)2D3. Type II VDDR arise from target organ resistance to 1,25-(OH)2D3. Unilateral renal aplasia is generally thought to result from a lack of induction of the metanephric blastema from the ureteral bud, which may be secondary to ureteral bud maldevelopment and/or to a problem with the formation of the mesonephric duct. The incidence of unilateral renal aplasia is approximately 1/500-3,200. Type 1 VDDR associated with unilateral renal aplasia has not been reported yet. Thus we report a case of a 3 month old female infant diagnosed as type 1 VDDR with unilateral aplasia of kidney.
Alkaline Phosphatase ; Congenital Abnormalities ; Female ; Humans ; Hyperparathyroidism, Secondary ; Hypocalcemia ; Hypophosphatemia ; Incidence ; Infant ; Kidney ; Rickets ; Ureter ; Urogenital Abnormalities ; Vitamins ; Wolffian Ducts

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A Case of Renovascular Hypertension Controlled by Percutaneous Transluminal Renal Angioplasty with Balloon Dilatatio.

Sung Woo PARK ; Su Ho JEONG ; Young Sun JEON ; Yong Hoon JUN ; Young Jin HONG ; Ji Eun LEE

Journal of the Korean Society of Pediatric Nephrology.2008;12(1):105-110.

Renovascular hypertension results from a lesion that impairs blood flow to a part of or all, of one or both kidneys. Renal artery stenosis is the major cause of renovascular hypertension and the most common cause of treatable secondary hypertension. Recently, percutaneous transluminal renal angioplasty(PTRA) with or without stent placement, has become the preferred choice for correcting symptomatic renal artery stenosis since it is less invasive than surgical reconstruction. PTRA with balloons designed for the dilatation of the coronary artery can be tried in small sized renal artery stenosis. We report a case of renovascular hypertension in a 13-year-old male who had small sized renal artery stenosis. Hypertension was controlled by PTRA with balloon dilatation.
Adolescent ; Angioplasty ; Coronary Vessels ; Dilatation ; Humans ; Hypertension ; Hypertension, Renovascular ; Kidney ; Male ; Renal Artery Obstruction ; Stents

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