00422090

open access

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ACE Gene Polymorphism in Children with Nephrotic Syndrome in the Indonesian Population

English (英語)

The Kobe journal of the medical sciences

51(3/4)

41-47

Kobe University School of Medicine

2005-11

2006-07-15

Background: The angiotensin converting enzyme (ACE) gene carries insertion (I)and deletion (D) polymorphism within its intron 16. The presence of D-allele in theACE gene has been reported as a probable genetic risk factor for idiopathic nephroticsyndrome (INS), especially the subtype of focal segmental glomerulosclerosis (FSGS).The D-allele may be related to poor responsiveness to steroid therapy. To clarify therelationship between the D-allele and INS, we studied the prevalence of the D-allele inthe Javanese-Indonesian patients. Additionally, we also analyzed relationship betweeneach genotype and steroid sensitivity among the MCNS patients.Methods: Eighty-five Javanese-Indonesian patients under 15 years of age with INSwere enrolled in this study: 16 patients with FSGS and 69 patients with minimal changenephrotic syndrome (MCNS). As controls, 68 healthy adult Javanese-Indonesians withno history of kidney disease volunteered to participate in this study. Genotypes basedon the polymorphisms (I/D) were determined by using a PCR method. As for thesteroid responsiveness, the information of 14 out of 16 FSGS patient (87.5%) and 69 outof 69 MCNS patients (100%) was available.Results: The genotype frequencies in the FSGS patients were II 37% (6/16), ID 44%(7/16) and DD 19% (3/16), and the D-allele frequency was 41% (13/32). The genotypefrequencies in the MCNS patients were II 56% (39/69), ID 38% (26/69) and DD 6%(4/69), and the D-allele frequency was 25% (34/138). The genotype frequencies in thecontrols were II 60% (41/68), ID 31% (21/68), and DD 9% (6/68), and the D-allelefrequency was 26% (33/136). None of the FSGS patients were sensitive to steroid, whilealmost all MCNS patients (66/69) were sensitive to steroid. The genotype frequenciesamong steroid-sensitive MCNS patients were consistent with those of the controls,suggesting that there was no relationship between each genotype and steroid sensitivity.Conclusions: In the Javanese-Indonesian population, none of the comparisonsshowed any significant differences in the genotypic distribution and allelic frequenciesamong the three groups, FSGS, MCNS and controls, although D-allele tended to existmore frequently in FSGS patients than in the MCNS patients and controls. In addition,the D-allele frequency was not related to steroid sensitivity in the MCNS patients.T. H. SASONGKO et al.42INTRODUCTION

nephrotic syndrome

紀要論文