Aiming at knowing the most common genetic disorders in our province, most of which result in syndromes with a number of clinical disorders. Some of such disorders are usually overlooked or under-estimated although they present a great challenge in the future of those patients as well as their families and the community as a whole. Endocrine & the metabolic troubles represent a number of these clinical disorders that if diagnosed & treated may result in great improvement in their quality of life & in relief the psychological & familial burdens of such disease. Our work was conducted on 52 paediatric patients (28 males & 24 females) suspected to have genetic disorders. The patients were attending the paediatric clinic in Benha University Hospital. All patients were subject to full clinical assessment, laboratory evaluation as complete CBC and radiologic assessment including plain X-ray and abdominal ultrasound. Karyotyping, aminogram and mucopolyacsacharide assay were done according to the condition of the patient. Forty-six patients were kayotyped, 22 of them were found to have trisomies (20 were Down's syndrome, one case is Edward's syndrome and one case Patau's syndrome). The mean age of those cases' mothers was 34.6 (ranging between 20-50 years). Ten patients out of 22 showed signs and symptoms of chest infection and 4 patients out of 22 were anaemic. This was explained by, bad cleaning of mother to her child, low social standard, repeated pregnancies and/or congenital anomalies and mostly immune-suppression state in those patients. The rate of congenital anomalies without association with a defined clinical syndrome in our study was 21 (40%) cases and only 7 cases (13.5%) were trisomies and had congenital anomalies. The results obtained were analyzed & interpreted. Coinciding the small scale of our work with such a high incidence of abnormal findings, we recommend a large scale work for obtaining more precise data base & winding of investigations including hormonal evaluation for more understanding of the underlying cause & last early intervention & careful follow-up all that helps in the national plane being under implementation in ARE. |
