Mohd Rozita, Wahab Zaimi Abdul, Cader Rizna, Gafor Halim A, Radzi Azizah Md, Shah Shamsul Azhar, Tong Norella Kong Chiew
Department of Medicine, Pusat Perubatan Universiti Kebangsaan Malaysia (PPUKM), Jalan Yaacob Latiff, Bandar Tun Razak, 56000 Cheras, Kuala Lumpur, Malaysia.
Institute of Medical Research, Malaysia.
J Clin Med Res. 2014 Aug;6(4):245-51. doi: 10.14740/jocmr1550w. Epub 2014 May 22.
Primary focal segmental glomerulosclerosis (FSGS) accounts for a third of biopsy-proven primary glomerulonephritis in Malaysia. Pediatric studies have found the insertion/deletion (I/D) polymorphism of the angiotensin-converting enzyme (ACE) gene to be associated with renal disease progression. The aim of this study was to determine the prevalence of the ACE (I/D) genotypes in adult primary FSGS and its association with renal outcome on follow-up.
Prospective observational study involving primary FSGS patients was conducted. Biochemical and urine tests at the time of study were compared to the time of the diagnosis and disease progression analyzed. ACE gene polymorphism was identified using polymerase chain reaction amplification technique and categorized into II, ID and DD genotypes.
Forty-five patients with a median follow-up of 3.8 years (interquartile range: 1.8 - 5.6) were recruited. The commonest genotype was II (n = 23, 51.1%) followed by ID (n = 19, 42.2%) and DD (n = 3, 6.7%). The baseline characteristics were comparable between the II and non-II groups at diagnosis and at study recruitment except that the median urine protein-creatinine index was significantly lower in the II group compared to the non-II group (0.02 vs. 0.04 g/mmol (P = 0.03). Regardless of genotypes, all parameters of renal outcome improved after treatment.
The II followed by ID genotypes were the predominant ACE gene alleles in our FSGS. Although the D allele has been reported to have a negative impact on renal outcome, treatment appeared to be more important than genotype in preserving renal function in this cohort.
在马来西亚，原发性局灶节段性肾小球硬化症（FSGS）占经活检证实的原发性肾小球肾炎的三分之一。儿科研究发现，血管紧张素转换酶（ACE）基因的插入/缺失（I/D）多态性与肾脏疾病进展有关。本研究的目的是确定成人原发性FSGS中ACE（I/D）基因型的患病率及其与随访时肾脏结局的关联。
对原发性FSGS患者进行前瞻性观察研究。将研究时的生化和尿液检查结果与诊断时的结果进行比较，并分析疾病进展情况。使用聚合酶链反应扩增技术鉴定ACE基因多态性，并将其分为II、ID和DD基因型。
招募了45例患者，中位随访时间为3.8年（四分位间距：1.8 - 5.6年）。最常见的基因型是II（n = 23，51.1%），其次是ID（n = 19，42.2%）和DD（n = 3，6.7%）。在诊断时和研究入组时，II组和非II组的基线特征具有可比性，但II组的尿蛋白肌酐指数中位数显著低于非II组（0.02 vs. 0.04 g/mmol，P = 0.03）。无论基因型如何，治疗后所有肾脏结局参数均有所改善。
在我们的FSGS患者中，II型基因型其次是ID型基因型是主要的ACE基因等位基因。尽管据报道D等位基因对肾脏结局有负面影响，但在该队列中，治疗在保护肾功能方面似乎比基因型更重要。
