Angiotensinogen M235T Polymorphism in Children with Henoch-Schonlein Purpura Nephritis

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.

A Case of Neonatal Atrial Flutter Treated by Propafenone after Fetal Echocardiographic Diagnosis

Perinatal atrial flutter is a potentially lethal arrhythmia. Management of this disorder is difficult and controversial. Fetal atrial flutter is a serious and life threatening rhythm disorder particulary when it causes hydrops; it may be associated with fetal death or neurological damage. Although the initial episode of flutter may be difficult to control, recurrence of atrial flutter after successful resolution of the arrhythmia seems highly unlikely and long-term prognosis is excellent. We experienced a case of a atrial flutter diagnosed in utero at 38+6 weeks' gestation by fetal cardiac echocardiography. He was treated with maternal digoxin, but he continued to have atrial flutter until delivery. Restoration of sinus rhythm occured with propafenone therapy in this patient after failure of initial digoxin therapy and direct current cardioversion.

The Effect of Angiotensin Converting Enzyme Gene Polymorphism in Children with Henoch-Schonlein Purpura Nephritis

PURPOSE: Henoch-Schonlein purpura(HSP) nephritis has been reported to vary 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 Insertion/Deletion(I/D) polymorphism of angiotensin converting enzyme(ACE) gene with clinical manifestations, particularly proteinuria in children with HSP nephritis, compared with that in HSP. METHODS: ACE gene polymorphism was determined in children with HSP nephritis(n=33) and HSP(n=28) who were diagnosed in Busan Paik hospital from January 1996 to June 2001. The I/D polymorphism of ACE gene was determined by PCR amplication of genomic DNA. RESULTS: The ACE I/D genotype frequency was DD : 25%, ID : 50%, II : 25% in HSP and DD : 24 %, ID : 46%, II : 30% in HSP nephritis, there was no significant difference in the genotype and allele frequencies between two groups. When statistical analysis was done according to the presence of D allele, the amount of 24-hour urinary protein excretion and the incidence of moderate to heavy proteinuria(>500 mg/m2/day) at onset and last follow-up were higher in DD/ID genotype than in those in II genotype, but these differences were not statistically significant. CONCLUSION: We suggest a lack of association between I/D polymorphism of ACE gene and clinical manifestations in children with HSP nephritis. However, further follow-up studies based on a sufficient number of patients and long term follow up periods are necessary to confirm the role of I/D polymorphism of ACE gene in children with HSP nephritis.

A Comparative Analysis of the Clinical and Pathological Features of IgA Nephropathy and Thin Glomerular Basement Membrane Disease

PURPOSE: IgA nephropathy(IgAN) and thin glomerular basement membrane disease(TGBMD) are common glomerular diseases that cause hematuria in childhood. IgAN has characteristics of IgA deposit as the sole or predominantly localized to the mesangium. Recently, it has been reported that thinning of glomerular basement membrane(GBM) is commonly accompanied with precipitation of electron dense deposits in IgAN. We performed this study to examine the frequency of thinning of GBM among children with IgAN and to analysis the correlation between urinary abnormalities and GBM thickness, and furthermore to conduct comparative analysis of the clinical and pathological features of IgAN and TGBMD. METHODS: This study summarizes data collected from Department of Pediatrics, Busan Paik Hospital, Inje Medical College. Data include 51 cases who were diagnosed as IgAN from 1995 to 2000, and 26 cases who were diagnosed as TGBMD from 1990 to 2000 by percutaneous renal biopsy. RESULTS: Males accounted for 29/51(56.9%) patients with IgAN and 8/26(30.8%) of those with TGBMD. The clinical and laboratory features between IgAN and TGBMD were significantly different regarding the incidence of proteinuria(IgAN vs TGBMD: 43.1% vs 3.8%, P=0.001), the incidence of co-appearance of proteinuria with hematuria (41.2% vs 3.8%, P=0.001), total amount of protein in 24 hours collected urine (808+/-188.5 mg vs 251+/-00.7 mg, P=0.001) and the incidence of proteinuria more than 1 gm in 24 hours collected urine (23.5% vs 3.8%, P=0.01). On the contrary, there were no significant differences in the levels of serum albumin, creatinine, BUN, and Ccr between two groups. The mean thickness of GBM in patients with IgAN was293.0+/-9.2 nm(139.7-461.9 nm) and 180.9+/-5.8 nm (110.5-229.5 nm) in patients with TGBMD. The mean GBM thickness revealed significantly thinner in TGBMD compared than those with IgAN (P=0.0001). The frequency of thickness being less than 250 nm was 37.4 +/-34.4% in IgAN and 93.0 +/-7.0% in TGBMD (P=0.0001). But there were no correlations between urinary abnormalities and GBM thickness in patients with IgAN. CONCLUSION: The thinning of GBM would be one of the common pathological findings in IgAN. Moreover, there is no significant correlations between urinary abnormalities and GBM thickness in patients with IgAN. However, patients with IgAN tend to have significantly higher possibilities of proteinuria, co-appearance of proteinuria with hematuria and higher total amount of protein in 24 hours collected urine compared those with TGBMD. These differences might be play an important role as progressive prognostic indicators in patients with IgAN.

The Case of Tuberous Sclerosis Occured in Mother and Two Daughters / 대한소아신경학회지

Tuberous sclerosis is an autosomal dominant disorder of cellular differentiation that affect the brain, skin, heart, kidney and other organs. We experienced three cases of tuberous sclerosis that affect multiple organs in mother and two daughters. We report these cases with brief review and related literatures.