Renal involvement in children and adolescents with inflammatory bowel disease / 소아과

PURPOSE: The incidence of inflammatory bowel disease (IBD) is rapidly increasing, and several reports have described the renal complications of IBD. We sought to evaluate the clinical manifestations of renal complications in children with IBD in order to enable early detection and prompt treatment of the complications. METHODS: We retrospectively reviewed the medical records of 456 children and adolescents aged < 20 years who had been diagnosed with IBD since 2000. We analyzed patient age, sex, medication use, IBD disease activity, and clinical manifestations of renal symptoms. RESULTS: Our study comprising 456 children with IBD included 299 boys (65.6%) and 157 girls (34.4%). The study included 346 children with Crohn disease and 110 children with ulcerative colitis. The incidence of kidney-related symptoms was 14.7%, which was significantly higher than that in normal children. We observed 26 children (38.8%) with isolated hematuria, 30 children (44.8%) with isolated proteinuria, and 11 children (16.4%) with hematuria and concomitant proteinuria. A renal biopsy was performed in 7 children. Histopathological examination revealed immunoglobulin A nephropathy in 5 children (71.4%). All children presented with mild disease and well-controlled disease activity of IBD. CONCLUSION: Children with IBD are more likely to show kidney-related symptoms than healthy children and adolescents are. Therefore, regular screening of urine and evaluation of renal function in such children are necessary for early detection of renal complications.

p-Cresyl sulfate and indoxyl sulfate in pediatric patients on chronic dialysis / 소아과

PURPOSE: Indoxyl sulfate and p-cresyl sulfate are important protein-bound uremic retention solutes whose levels can be partially reduced by renal replacement therapy. These solutes originate from intestinal bacterial protein fermentation and are associated with cardiovascular outcomes and chronic kidney disease progression. The aims of this study were to investigate the levels of indoxyl sulfate and p-cresyl sulfate as well as the effect of probiotics on reducing the levels of uremic toxins in pediatric patients on dialysis. METHODS: We enrolled 20 pediatric patients undergoing chronic dialysis; 16 patients completed the study. The patients underwent a 12-week regimen of VSL#3, a high-concentration probiotic preparation, and the serum levels of indoxyl sulfate and p-cresyl sulfate were measured before treatment and at 4, 8, and 12 weeks after the regimen by using fluorescence liquid chromatography. To assess the normal range of indoxyl sulfate and p-cresyl sulfate we enrolled the 16 children with normal glomerular filtration rate who had visited an outpatient clinic for asymptomatic microscopic hematuria that had been detected by a school screening in August 2011. RESULTS: The baseline serum levels of indoxyl sulfate and p-cresyl sulfate in the patients on chronic dialysis were significantly higher than those in the children with microscopic hematuria. The baseline serum levels of p-cresyl sulfate in the peritoneal dialysis group were significantly higher than those in the hemodialysis group. There were no significant changes in the levels of these uremic solutes after 12-week VSL#3 treatment in the patients on chronic dialysis. CONCLUSION: The levels of the uremic toxins p-cresyl sulfate and indoxyl sulfate are highly elevated in pediatric patients on dialysis, but there was no significant effect by probiotics on the reduction of uremic toxins in pediatric dialysis patients. Therefore, studies for other medical intervention to reduce uremic toxins are also necessary in pediatric patients on dialysis.

Translational Read-Through of a Nonsense Mutation Causing Bartter Syndrome

Bartter syndrome (BS) is classified into 5 genotypes according to underlying mutant genes and BS III is caused by loss-of-function mutations in the CLCNKB gene encoding for basolateral ClC-Kb. BS III is the most common genotype in Korean patients with BS and W610X is the most common CLCNKB mutation in Korean BS III. In this study, we tested the hypothesis that the CLCNKB W610X mutation can be rescued in vitro using aminoglycoside antibiotics, which are known to induce translational read-through of a nonsense mutation. The CLCNKB cDNA was cloned into a eukaryotic expression vector and the W610X nonsense mutation was generated by site-directed mutagenesis. Cultured polarized MDCK cells were transfected with the vectors, and the read-through was induced using an aminoglycoside derivative, G418. Cellular expression of the target protein was monitored via immunohistochemistry. While cells transfected with the mutant CLCNKB failed to express ClC-Kb, G418 treatment of the cells induced the full-length protein expression, which was localized to the basolateral plasma membranes. It is demonstrated that the W610X mutation in CLCNKB can be a good candidate for trial of translational read-through induction as a therapeutic modality.

Continuous renal replacement therapy in neonates weighing less than 3 kg / 소아과

PURPOSE: Continuous renal replacement therapy (CRRT) is becoming the treatment of choice for supporting critically ill pediatric patients. However, a few studies present have reported CRRT use and outcome in neonates weighing less than 3 kg. The aim of this study is to describe the clinical application, outcome, and complications of CRRT in small neonates. METHODS: A retrospective review was performed in 8 neonatal patients who underwent at least 24 hours of pumped venovenous CRRT at the Samsung Medical Center in Seoul, Korea, between March 2007 and July 2010. Data, including demographic characteristics, diagnosis, vital signs, medications, laboratory, and CRRT parameters were recorded. RESULTS: The data of 8 patients were analyzed. At the initiation of CRRT, the median age was 5 days (corrected age, 38(+2) weeks to 23 days), and the median body weight was 2.73 kg (range, 2.60 to 2.98 kg). Sixty-two patient-days of therapy were reviewed; the median time for CRRT in each patient was 7.8 days (range, 1 to 37 days). Adverse events included electrolyte disturbances, catheter-related complications, and CRRT-related hypotension. The mean circuit functional survival was 13.9+/-8.6 hours. Overall, 4 patients (50%) survived; the other 4 patients, who developed multiorgan dysfunction syndrome, died. CONCLUSION: The complications of CRRT in newborns are relatively high. However, the results of this study suggest that venovenous CRRT is feasible and effective in neonates weighing less than 3 kg under elaborate supportive care. Furthermore, for using potential benefit of CRRT in neonates, efforts are required for prolonging filter survival.

An overview of the national immunization policy making process: the role of the Korea expert committee on immunization practices / 소아과

The need for evidence-based decision making in immunization programs has increased due to the presence of multiple health priorities, limited human resources, expensive vaccines, and limited funds. Countries should establish a group of national experts to advise their Ministries of Health. So far, many nations have formed their own National Immunization Technical Advisory Groups (NITAGs). In the Republic of Korea, the Korea Expert Committee on Immunization Practices (KECIP), established by law in the early 1990s, has made many important technical recommendations to contribute to the decline in vaccine preventable diseases and currently functions as a NITAG. It includes 13 core members and 2 non-core members, including a chairperson. Core members usually come from affiliated organizations in internal medicine, pediatrics, obstetrics, microbiology, preventive medicine, nursing and a representative from a consumer group, all of whom serve two year terms. Non-core members comprise two government officials belonging to the Korea Centers for Disease Control and Prevention (KCDC) and the Korea Food and Drug Administration. Meetings are held as needed, but at least twice a year, and sub-committees are formed as a resource for gathering, analyzing, and preparing information for the KECIP meetings. Once the sub-committees or the KCDC review the available data, the KECIP members discuss each issue in depth and develop recommendations, usually by a consensus in the meeting. The KECIP publishes national guidelines and immunization schedules that are updated regularly. KECIP's role is essentially consultative and the implementation of their recommendations may depend on the budget or current laws.

Influence of VEGF Genetic Polymorphism on Peritoneal Solute Transport in Pediatric Dialysis Patients

PURPOSE: Genetic and clinical factors can influence the permeability of the peritoneal membrane. The peritoneal equilibration test (PET) is helpful in measuring peritoneal permeability in peritoneal dialysis (PD). We investigated the influence of genetic polymorphism of vascular endothelial growth factor (VEGF) on the PET parameters. METHODS: Pediatric patients who underwent PET within 12 months of initiating PD at Seoul National University Children's Hospital and Samsung Medical Center were selected. The patients with positive history of peritonitis before PET were excluded. The VEGF -2578C/A, -14978T/C, -1154G/A, -634G/C, and +936C/T single-nucleotide polymorphisms were genotyped. RESULTS: The mean 4-hour dialysate-to-plasma ratio for creatinine (D/P creatinine) and the mean 4-hour dialysate glucose to baseline dialysate glucose ratio (D/D0 glucose) were 0.56+/-0.13 and 0.43+/-0.11, respectively. The patients with haplotype CTGGC showed higher 4-hour D/P creatinine (0.67+/-0.12 vs 0.50+/-0.09, P=0.007) and lower 4-hour D/D0 glucose (0.35+/-0.12 vs 0.47+/-0.08, P=0.037) than those without haplotype CTGGC. CONCLUSION: The VEGF genetic polymorphism may influence the peritoneal solute transport.

Intravenous Iron Supplementation in Korean Children on Chronic Dialysis

PURPOSE: Limited information is available on experiences of intravenous iron treatment in children. In this study, iron sucrose was administered intravenously to determine its effect, the factors predicting outcome, and safety in children on chronic dialysis. METHODS: Twenty-one children whose serum ferritin levels were less than 100 ng/mL or transferrin saturations (TSAT) were less than 20% were enrolled. In 12 children on peritoneal dialysis (PD), the drug was infused intravenously as 200 mg/m2 (< or =200 mg) at week 0, 2, 4, and 6. In 9 children on hemodialysis (HD), it was given intravenously as 8 weekly doses of 3 mg/kg (< or =100 mg) through week 0-7. RESULTS: After treatment, serum ferritin levels increased significantly in both groups, and TSAT rose significantly in PD group. However, hemoglobin level did not rise significantly in both groups. Children with baseline hemoglobin less than 10 g/dL or baseline TSAT less than 20% showed significantly higher rise of hemoglobin after intravenous iron treatment. To the contrary, those with higher baseline hemoglobin and TSAT levels displayed higher rise in serum ferritin after the treatment. Although no serious adverse event occurred, TSAT levels exceeding 50% were noted in 6 patients in PD group. CONCLUSION: This suggests that 3 mg/kg/week of intravenous iron sucrose can be used safely in children on chronic HD, but 200 mg/m2 every other week may incur excessive TSAT level in some patients on chronic PD.

Polymorphisms of the NR3C1 gene in Korean children with nephrotic syndrome / 소아과

PURPOSE: Idiopathic nephrotic syndrome (NS) can be clinically classified as steroid-sensitive and steroid-resistant. The detailed mechanism of glucocorticoid action in NS is currently unknown. METHODS: In this study, we investigated 3 known single nucleotide polymorphisms (SNPs) (ER22/23EK, N363S, and BclI) of the glucocorticoid receptor gene (the NR3C1 gene) in 190 children with NS using polymerase chain reaction-restriction fragment length polymorphism and analyzed the correlation between the genotypes and clinicopathologic features of the patients. RESULTS: Eighty patients (42.1%) were initial steroid nonresponders, of which 31 (16.3% of the total) developed end-stage renal disease during follow-up. Renal biopsy findings of 133 patients were available, of which 36 (31.9%) showed minimal changes in NS and 77 (68.1%) had focal segmental glomerulosclerosis. The distribution of the BclI genotypes was comparable between the patient and control groups, and the G allele frequencies in both the groups were almost the same. The ER22/23EK and N363S genotypes were homogenous as ER/ER and NN, respectively, in all the patients and in 100 control subjects. The BclI genotype showed no correlation with the NS onset age, initial steroid responsiveness, renal pathologic findings, or progression to end-stage renal disease. CONCLUSION: These data suggested that the ER22/23EK, N363S, and BclI SNPs in the NR3C1 gene do not affect the development of NS, initial steroid responsiveness, renal pathologic lesion, and progression to end-stage renal disease in Korean children with NS.

Polymorphisms of the NR3C1 gene in Korean children with nephrotic syndrome / 소아과

PURPOSE: Idiopathic nephrotic syndrome (NS) can be clinically classified as steroid-sensitive and steroid-resistant. The detailed mechanism of glucocorticoid action in NS is currently unknown. METHODS: In this study, we investigated 3 known single nucleotide polymorphisms (SNPs) (ER22/23EK, N363S, and BclI) of the glucocorticoid receptor gene (the NR3C1 gene) in 190 children with NS using polymerase chain reaction-restriction fragment length polymorphism and analyzed the correlation between the genotypes and clinicopathologic features of the patients. RESULTS: Eighty patients (42.1%) were initial steroid nonresponders, of which 31 (16.3% of the total) developed end-stage renal disease during follow-up. Renal biopsy findings of 133 patients were available, of which 36 (31.9%) showed minimal changes in NS and 77 (68.1%) had focal segmental glomerulosclerosis. The distribution of the BclI genotypes was comparable between the patient and control groups, and the G allele frequencies in both the groups were almost the same. The ER22/23EK and N363S genotypes were homogenous as ER/ER and NN, respectively, in all the patients and in 100 control subjects. The BclI genotype showed no correlation with the NS onset age, initial steroid responsiveness, renal pathologic findings, or progression to end-stage renal disease. CONCLUSION: These data suggested that the ER22/23EK, N363S, and BclI SNPs in the NR3C1 gene do not affect the development of NS, initial steroid responsiveness, renal pathologic lesion, and progression to end-stage renal disease in Korean children with NS.

Pred iction of High Grade Vesicoureteral Reflux in Infants Less than 3 Months with Urinary Tract Infection

PURPOSE: Our aim was to investigate the predictive factors for detecting grade III-V vesicoureteral reflux(VUR) in young infants less than 3 months with urinary tract infections (UTI). METHODS: Data of infants who underwent ultrasonography and VCUG between January 2004 and September 2007 were reviewed. Age, gender, incidence of bacteremia, C-reactive protein(CRP) and imaging studies were compared between group I(grade III-V VUR) and group II (normal or grade I and II VUR) retrospectively. Sensitivity, specificity, positive and negative predictive values, odds ratio, and likelihood ratio of ultrasonography for high grade VUR were evaluated. RESULTS: Among 54 enrolled infants(41 males, 13 females), 14 infants were group I and 40 infants were group II. In the group I, CRP level was significantly higher(6.11+/-5.18 vs. 3.27+/-3.45, P=0.025), and there were more ultrasonographic abnormal findings(71.4%, vs. 22.5%, P=0.002) compared with group II. However, ultrasonography was the only significant factor after adjusting with logistic regression(P=0.002). Incidence of bacteremia and abnormal DMSA findings were not significantly different in two groups. Sensitivity, specificity, and odds ratio of ultrasonography was 71.4%, 77.5%, 6.9 respectively. Negative predictive value was 88.6% and negative likelihood ratio was 0.37. Ultrasonography had significant negative likelihood ratio for grade III-V VUR, but missed 4 infants with grade III VUR. CONCLUSION: We could not find any alternative predictive factors to reduce VCUG in detecting high grade VUR. Therefore, VCUG must be considered in young infants less than 3 months with UTI.

A Case of Wegener's Granulomatosis with Multi-organ Involvement in Childhood

Wegener's granulomatosis(WG) is a necrotizing granulomatous small vessel vasculitis with a clinical predilection for involvement of the upper airways, lungs and kidneys. The disease usually manifests in adults between 25 and 50 years of age, but it can also rarely occur-in childhood with some features different from those of adults. WG may be easily overlooked in young patients by misinterpretion of the symptoms as caused by an infectious disease of the respiratory tract. Delayed diagnosis and treatment of the disease may cause more rapid progression of the glomerulonephritis to end stage renal disease. We report a boy who was diagnosed with WG with involvement of multiple organs at 13 years of age.

Risk Factors for the Progression of Pediatric Chronic Kidney Disease-A Single Center Study

PURPOSE: The progressive deterioration of renal function in children can impose a serious and lifelong impact on their lives. The ultimate goal in the management of children with chronic kidney disease(CKD) is to prolong survival, to prevent complications, and to promote growth and neurodevelopment. The aim of this study is to investigate the risk factors for the decline of renal function in pediatric CKD patients. METHODS: Data from patients who met the criteria for the Kidney Disease Outcomes Quality Initiative(K/DOQI) CKD stage 2 to 4 between August 1999 and March 2007 were retrospectively analyzed. The estimated glomerular filtration rate(eGFR) was calculated by the Schwartz formula, using serum creatinine levels and height. We calculated the annual eGFR change from the difference between the baseline eGFR and the last eGFR divided by the duration(years) of the follow-up period. We analyzed the association between the annual eGFR change and factors such as age, gender, K/DOQI stage, underlying renal disease, serum calcium, and inorganic phosphorous during the follow-up period. RESULTS: Sixty one children(44 boys & 17 girls) were enrolled. The age at entry was 7.1+/-4.7 years. The annual eGFR change was -1.2+/-11.9 mL/min/1.73m2/year. Our study showed that older age(P=0.005), hypocalcemia(P=0.012), and hyperphosphatemia(P=0.002) were significantly related to more rapid decline in renal function. CONCLUSION: In pediatric CKD, older age, hypocalcemia and hyperphosphatemia are related to more rapid deterioration of renal function.

Outcomes of Chronic Peritoneal Dialysis by Various Modalities in Korean Children: A Single Center Study

PURPOSE: A single center cross sectional retrospective study was performed to compare the outcomes of different peritoneal dialysis(PD) modalities in Korean children. METHODS: Among children dialyzed with PD between the year 2004 and 2007, 35 children had reliable data on PD adequacy after 3 to 15 months of dialysis. Subjects were grouped by their modalities; 17, 13 and 5 children were on continuous ambulatory PD(CAPD), continuous cyclic PD(CCPD) and nightly intermittent PD(NIPD), respectively. Body weight and height, number of patients taking anti-hypertensives and laboratory data including biochemical and hemoglobin levels were compared. Dialysis adequacy including weekly Kt/Vurea, creatinine clearance (Ccr) and daily water removal were also compared. Patients were sub-grouped by their peritoneal permeability characteristics. RESULTS: The percentage of patients taking anti-hypertensives, monthly change in Z-scores of body weight and height and laboratory data did not differ among the groups. Patients on CAPD and CCPD showed similar dialysis adequacies. Weekly dialytic Ccr was significantly lower in the NIPD group compared to the others. But total Ccr was not different when residual renal function was added. Weekly dialytic Ccr by CAPD was significantly higher than that of CCPD in low and low-average transporters. CONCLUSION: We propose that modality can be selected flexibly according to the patients' preferences. And peritoneal permeability characteristics provide valuable information for adjusting PD prescriptions in ultrafiltration failure or in inadequate dialysis. Further study of other clinical performance measures should be performed to clarify the comparable outcomes in different PD modalities.

Intrafamilial Spread of Diarrhea-associated Hemolytic Uremic Syndrome

Diarrhea-associated hemolytic uremic syndrome(D+ HUS) is induced by enterohemorrhagic Escherichia coli(EHEC) and is characterized by the triad of microangiopathic hemolytic anemia, thrombocytopenia, and acute renal failure. The disease is usually transmitted by meat and water contaminated by excreta of domestic animals. We report a son and his mother with diarrhea-associated hemolytic uremic syndrome that spread within the family.

Two Novel Mutations in the Aquaporin 2 Gene in a Girl with Congenital Nephrogenic Diabetes Insipidus

Congenital nephrogenic diabetes insipidus (CNDI) is a rare inherited disorder characterized by insensitivity of the kidney to the antidiuretic effect of vasopressin. There are three inheritance patterns of CNDI: the X-linked recessive form associated with vasopressin V2 receptor gene mutations, and the autosomal recessive and dominant forms associated with aquaporin-2 gene (AQP2) mutations. The evaluation for polyuria and polydipsia in a one-month-old Korean girl revealed no response to vasopressin and confirmed the diagnosis of CNDI. Because the child was female without family history of CNDI, her disease was thought to be an autosomal recessive form. We analyzed the AQP2 gene and detected a compound heterozygous missense point mutation: (70)Ala (GCC) to Asp (GAC) in exon 1 inherited from her father and (187)Arg (CGC) to His (CAC) in exon 3 inherited from her mother. The first mutation is located within the first NPA motif of the AQP2 molecule and the second one right after the second NPA motif. This is the first report to characterize AQP2 mutations in Korean patients with autosomal recessive CNDI, and expands the spectrum of AQP2 mutations by reporting two novel mutation, (70)Ala (GCC) to Asp (GAC) and (187)Arg (CGC) to His (CAC).

Prognostic Factors in Children with Henoch-Schonlein Purpura Nephritis

PURPOSE: The long term disease course and prognostic factors were evaluated in childhood Henoch-Schonlein purpura 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+/-3.1 years(2.3-15.3 years), and the follow-up period was 4.3+/-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 < or =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.

Second Trial of Cyclosporin A-Induced Remission in Other Immunosuppressant Therapy-Resistant FSGS Patient

Focal segmental glomerulosclerosis(FSGS) has been detected in approximately 10% of cases of idiopathic nephrotic syndrome in children, and exhibits a poor response to initial steroid therapy, as well as a higher rate of progression to chronic renal failure and relapse after kidney transplantation. We describe a case of an eleven year-old boy with steroid-resistant FSGS who exhibited a response to a second trial of cyclosporin A(CsA) therapy. At the age of 26 months, this patient was diagnosed with steroid-resistant FSGS. For 9 years, he had undergone a gauntlet of therapies to induce remission; oral steroids, cyclophosphamide, methylprednisolone(mehylPd) pulse therapy, CsA, and ibuprofen therapy. Although these therapies failed to induce remission, the patient's renal function remained in the normal range during the nine years of treatment. At the age of ten years, the patient's proteinuria decreased, and complete remission was attained with a second administration of CsA, coupled with a low dose of oral steroids. This patient continues to receive CsA without relapse. Therefore, our major concern involves the possibility of relapse after the discontinuation of CsA therapy. Our findings in this case suggest that, in cases of refractory FSGS, if renal insufficiency does not emerge, aggressive therapy for the amelioration of proteinuria should be continuously pursued.

A Case of Membranoproliferative Glomerulonephritis Superimposed on Type 1 Diabetes Mellitus

Renal diseases other than diabetic nephropathy can occur in diabetic patients. Urinary abnormalities or clinical courses inconsistent with the natural progression of diabetic nephropathy are suggestive of non-diabetic renal diseases and should lead to more extensive investigations. Presence of non-diabetic renal diseases in diabetic patients can alter the treatment plan and the prognosis. We report a 9-year-old girl who had type 1 membranoproliferative glomerulonephritis as well as type 1 diabetes mellitus.

A Clinicopathological Study of Rapidly Progressive Glomerulonephritis in Children

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 retro spectively 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-glome rular 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.

Clinical Study of Hypophosphatemic Rickets

PURPOSE: Hypophosphatemic rickets is a hereditary disease, characterized by hypophosphatemia due to renal phosphate wasting, impaired renal production of 1,25-dihydroxyvitamin D3, rachitic bone deformities and impaired growth. The purpose of this study is to provide clinical profiles of patients with hypophosphatemic rickets in our hospital. METHODS: Between July 1983 and February 2004, 56 patients were diagnosed as having hypophosphatemic rickets. The medical records of these patients were reviewed retrospectively. Clinical manifestations, family histories, laboratory data, treatment outcomes were described. RESULTS: Fifty six patients were enrolled in this study. The average age at symptom onset and diagnosis were 20 months and 5 years respectively. Fourteen patients had family histories. The main clinical manifestations were bow legs and short stature. There was a significant negative correlation between the ages and the height z-scores at the time of diagnosis(r=-0.47, P=0.005). Initial laboratory data showed normocalcemia, hypophosphatemia, elevated serum alkaline phosphatase, decreased tubular reabsorption of phosphate and a normal range of 1,25-dihydroxyvitamin D3. Radiographic examinations of bone revealed fraying, widening and cupping of the metaphyseal ends. Treatment consisted of Joulie solution and vitamin D metabolites, and resulted in improved biochemical and radiographic findings. However, height z-scores remained essentially unchanged(P=0.224). Complications of treatment were frequently observed, including hyperparathyroidism, nephrocalcinosis, and hypercalciuria. Sixteen patients had corrective osteotomy and 4 of them underwent leg lengthening together. CONCLUSION: There was a gap of several years between the onset of symptoms and the diagnosis. Early treatment seems to be essential to growth. For the earlier treatment, the offsprings of affected parents should be followed up closely.