الفهرس 
IntroductionOnly 14 pages are availabe for public view
 |  | from | 146 |  |  |
| | | from | 146 | | |
Abstract
Chronic kidney disease is the term defined by the National Kidney Foundation Kidney Disease and Outcome Quality Initiative (KDOQI)group to classify any patient who has kidney damage (which is manifested by pathological abnormalities noted on renal biobsy specimens or abnormalities revealed by blood , imaging or urine tests) lasting at least 3 months with or without a decrease GFR or any patient who has a GFR of less than 60 ml/min per 1.73 m2 lasting for 3 months with or witout kidney damage .Utilizaing this definition , CDK is present if the GFR is less than 60 ml/min per 1.73 m2 for ≥3 months .In addition ,CDK is also present if the GFR is ≥60 ml /min per m2 if other evidence of kidney damage exists .
Chronic kidney disease–mineral and bone disorder (CKD-MBD) is one of the many complications associated with chronic kidney disease.
The SOST gene provides instructions for making the protein sclerostin. Sclerostin is a 190-amino-acid glycoprotein that is mainly secreted by osteocytes, and it decreases bone formation by inhibiting the terminal differentiation of osteoblasts and promoting their apoptosis.
In this study we aimed to investigate the association of Sclerostin genetic polymorphisms (rs 865429) among children with chronic kidney disease – bone mineral disorder . The study was carried out on 80 children from the pediatric renal dialysis unit in Menoufia University Hospital and Sporting Medical insurance hospital for students in the period from December 2020 to June 2021.
Summary
100
Our cases divided into two groups as follows:
group 1 (patient group) includes 40 children: 20 male and 20 female, the mean age was 12.95 ± 3.71 year , on regular renal hemodialysis.
group 2 (control group) includes 40 apparently healthy children matched of age, socioeconomic status and sex with patient group: 24 male and 16 female, the mean age was 10.60 ± 2.65 year .
All participants were selected according to the inclusion and exclusion criteria:
Inclusion Criteria:
● Age more than 6 and less than 18 years
● Patients suffering from chronic kidney disease - bone mineral disorder for not less than three years.
● Both sexes.
Exclusion Criteria:
● Patients positive for HCV and HBV
● Any patient receiving drugs that may affect bone matrix (corticosteroids and others).
● Any patient suffering form immunological disease.
All patients and control were subjected to the following: Detailed history taking, complete general examination, laboratory investigations, molecular study of sost gene rs 865429 polymorphisms by PCR-RFLP, family counseling, data management and statistical analysis.
Summary
101
The results of the current study can be summarized as follows:
Age, sex, residence, consanguinity showed no significant difference between the two groups. While, height, weight and BMI were significantly different between the two groups.
There were significant decrease in patients group compared to control group, regarding hemoglobin and Ca, p<0.001 for both. Concerning P and PTH, there was sigficant increase in patient group compared to control group, p<0.001.
There were significant decrease in patients group compared to control group, regarding S. iron, p=0.005. S ferritin, there was sigficant increase in patient group compared to control group, p<0.001. There was no significant didderence between studied groups regarding TIBC, p=0.063.
There were significant increase in patients group compared to control group, regarding systolic and diastolic blood pressure, p=0.003 and 0.007, respectively. Concerning DEXA scan age matched Z score, there was sigficant decrease in patient group compared to control group, p<0.001. There was no significant difference between both groups regarding pulse.
Healthy controls had higher frequency of normal genotype CC comparible to diseased group.
Patients group had higher frequency of heterozygous genotype CT and homozygous TT genotype than healthy controls .
Mutant T allele was more prominent in the patient group with high significance P –value (<0.001)
Summary
102
There was a higher risk of disease associated with variant CT, (OR=4.750 95% C.I.(1.558-14.481), and CT+TT (OR=8.500, 95% C.I.(2.904-24.879), and Allele frequency of T (OR=6.323 95% C.I.(3.112-12.845).
There was correlation between CT genotype and TT genotype patients who had more than one complication in a sever form (such as curvature of long bone and recurrent fractures. In spite of there was no statistically significant relation between genotype and complications in the patient group, the bone mineral disorders which presented by DEXA scan among patients carrying the risky allele T were more prominent .
And there was variant response to the mangment protocol of the kidney unit regarding to Ca ,P and PTH concentration correlated to genotype which more rapid with CC genotype comparible to CT and more less will be in TT genotype.