Browsing by Author "Asiala, Mikko"

Juvenile arteriosclerosis (JAS, OMIM# 208060) is an autosomal recessive disorder that has been found from only nine Finnish patients. So far, it has not been comprehensively described in medical literature. Main phenotypic features of JAS include arterial calcification, high systolic blood pressure, retardation of growth and puberty, anaemia, renal failure, and premature death. Patients were typically attended to clinical examinations at school-age, when already arterial calcification and other phenotypic features of JAS could be detected. One patient, with a milder phenotype, turned out to be a compound heterozygote. Arterial calcification in youth or adolescence is extremely rare. In some rare genetic disorders, arteriosclerosis can be detected at a young age. Untreated familial hypercholesterolemia can cause atherosclerosis already in childhood. JAS differs from these disorders by its clinical phenotype, and by its molecular genetic background. All available patients´ medical history, laboratory results, radiological examinations, autopsy reports and tissue samples were gathered for this research and used to determine the phenotype of JAS. Pathogenesis of JAS was studied with functional experiments. Comprehensive description of JAS and discovery of its molecular genetic background enables recognising and diagnosing new patients. Investigation of the pathogenetic mechanism will provide new information about ectopic calcification and probably offer new prospects to the research of common vascular diseases.