Angiotensin converting enzyme [ACE] l/D gene polymorphism in children with idiopathic nephrotic syndrome

Various genetic markers have been studied to predict susceptibility and course of nephrotic syndrome. The Angiotensin-converting enzyme [ACE] gene carries insertion [I] and deletion [D]polymorphism within its intron 16. The presence of D-allele in the ACE gene has been reported as a probable genetic risk factor for idiopathic nephrotic syndrome [INS] and may be also related to poor responsiveness to steroids which is the single most important clinical parameter in determining the course of the disease. The aim is to determine the distribution of the ACE gene insertion/deletion [l/D] polymorphism, and its effect on clinical, laboratory, histological findings and therapeutic response in childhood INS. Fifty one nephrotic syndrome patients [35 males and 16 females] were enrolled in the study. All patients received oral steroids as in initial therapy for their nephrotic syndrome. The pattern of response to steroid therapy was determined and patients divided into 2 groups: steroid sensitive [SS] and non-steroid sensitive [non-SS]. The non-SS group was further divided into steroid dependent [SD] and steroid resistant [SR] patients. Clinical, laboratory and histological features were determined. Fifty unrelated healthy adults were recruited as controls. The genotypes for ACE l/D polymorphism were analyzed by using a PCR based method. Twenty patients were SS and 31 were non-SS, of the non-SS group, 18 were SD and 13 were SR. The presence of hypertension at presentation was significantly related to steroid unresponsiveness. Among the SS group the frequencies of the Ii, ID, and DD genotypes of the ACE gene were 20%[n=4], 65%[n=13] and 15%[n=3], respectively, while the frequencies among the Non-SS group were 19.4%[n=6], 74.2%[n=23] and 6.5%[n=2], respectively. The differences between the two groups were statistically insignificant [Chi square=0.59]. The corresponding incidence for control was 12%, 68% and 10% respectively. The differences between controls versus the entire patient group, the SS group and the non-SS group were not statistically significant [p value>0.05 in all]. The frequency of D+genotype was 80%[n=16] in the SS group compared to 80.6%[n=25] in the Non-SS group, the difference between the two groups was statistically insignificant [Fisher's exact=1]. The pattern of the ACE gene polymorphism showed insignificant correlation with age of onset of the disease, hypertension at presentation, stability of renal functions and renal biopsy results. The current study on Egyptian children with INS reveals no association between ACE gene l/D polymorphism and clinical, histological findings, steroid responsiveness, or progression of the disease These results are at variance with reports from other parts of the world suggesting that the impact of ACE gene polymorphism on pediatric INS is likely to be influenced by the ethnic origin. Results of this study revealed an association between hypertension at presentation and non-responsiveness to steroid. Patients with steroid non responsiveness were more liable to develop impaired renal function

Breast conserving therapy for early breast cancer: long term follow-up

Breast conserving surgery followed by breast irradiation for appropriately selected patients with early stage breast cancer gives the same long term survival rates as radical mastectomy. The large breast volume of female Egyptian patients allows for a wide resection margin during wide local excision without a marked alteration in the aesthetic breast contour. Between 1995 and 2004, 101 female patients with early stage breast cancer were diagnosed and treated, at the Cairo National Cancer Institute hospital, by breast conserving surgery followed by postoperative radiotherapy and adjuvant systemic therapy. Patients were regulary followed up till the end of the study. Mean age of patients was 47.1 years [SD +/- 10.2]. The median time of follow-up of patients was 34 months [range: 3-127]. Kaplan-Meier estimate of 5-year local recurrence rate was 11.5% [95% confidence interval]. There was no axillary nodal recurrence. The cumulative 5 year disease tree survival was 80%. 44.5% of patients showed a good cosmetic results while 40.6% showed a fair cosmetic result. It is concluded that, inappropriately selected patients with an early stage breast cancer, they should be offered breast conserving surgery followed by breast radiation. BCT do not affect patient's survival, it preserves the breast in an acceptable cosmetic result and avoid the mutilating result of mastectomy