Factores de riesgo genético en catarata congénita e infantil en población Colombiana

As the twenty-first gets underway, and events such as the mapping of the human genome take place, it is worrisome that developing nations are almost entirely uninformed about genetic risk factors and the role play in shaping public heath policies. Our research project, which concentrated on congenital and infantile cataracts in Colombia, was aimed at illustrating just how important these genetic risk factors can be in the diagnosis of these medical problems. One hundred and forty-three children were examined in nine different cities throughout Colombia. Our objective was to measure specific factors, which included: metabolic alterations, chromosomal abnormalities, important family antecedents, possible prenatal infection and the basic etiology of each case. Our epidemiological research on clinical cataracts also included analysis of such influent factors as: anatomic involvement: unilateral or bilateral, geographical location of patients, consanguinity, and the findings of more complex phenotypes which could make up genetic syndromes. Our studies on amino acids revealed no specific abnormalities; however, we did find cases of patients whose levels of alanine in the blood and urine were elevated; both of which may be indicators of mitochondrial DNA damage. When tests were carried out to determine the presence of the Galput galactose,1P transferase enzyme, a high percentage (forty-five percent) of children tested revealed abnormal enzyme performance. The presence of classic galactosemia was not confirmed; however, we suspect that we may have come upon a new variety of the illness. Almost all cases of chromosomal alteration corresponded to Downs Syndrome (nine), only one was classified as male sex reversal syndrome XX. Cytogenetic analysis revealed no evidence of deletions nor of translocations in determining genetic localization; but, it did bring to the for the importance of performing cytogenetic screening among these children. Delayed detection of cataracts is yet another risk factor which increases the socio-economic costs and affects visual health prevention programs. Other factors, such as bilateral cataract may indicate the presence of higher genetic risk. Nuclear cataract were the most frequent, a fact which points to the existence of yet another genetic risk factor. The etiological classification among this population showed a very high proportion of genetic related cases. This type of classification requires that all possible information, ranging from personal and family antecedents to specific laboratory exams be taken into consideration because no single parameters can define a single case. [In light of the information gathered from these interesting case studies, in which large and informative families participated, and in which important questions were raised through analysing bio-chemical results, we came to the conclusion that further cytogenetic studies should be carried out. We deem this to be important because congenital and infantile cataracts are more frequent in Colombia than elsewhere and the cause is probably linked to genetics.