A CASE OF LEFT-SIDED OCCLUSION OF THE RENAL ARTERY IN A CHILD WITH A GENETIC FORM OF THROMBOPHILIA

Abstract

Recently has greatly improved diagnosis of hereditary thrombophilia. Unlike other forms of methylene tetrahydro folate reduktase gene mutation (MTHFR) that are characteristic of both venous and arterial thrombosis. In the literature described isolated cases of thrombosis of renal vessels in adults. The authors describe their own observation of a child with a congenital heart defect, who inherited thrombophilia manifested by the development of left-sided occlusion of the renal artery, resulting in severe renovascular hypertension and nephrosclerosis of left kidney. The girl on molecular genetic testing revealed a homozygous carrier of the plasminogen I type inhibitor allele, compound heterozygous allele carriers of MTHFR, heterozygous carrier of the methionine synthase reductase (MTRR) allele.