Monogenic pediatric dyslipidemias: classification, genetics and clinical spectrum.
Monogenic disorders that cause abnormal levels of plasma cholesterol and triglycerides have received much attention due to their role in metabolic dysfunction and cardiovascular disease. While these disorders often present clinically during adulthood, some present most commonly in the pediatric population and can have serious consequences if misdiagnosed or untreated. This review provides an overview of monogenic lipid disorders that present with unusually high or low levels of plasma cholesterol and/or triglycerides during infancy, childhood and adolescence. Biochemical and genetic findings, clinical presentation and treatment options are discussed with an emphasis upon recent advances in our understanding and management of these monogenic disorders.
Rahalkar
Amit R
AR
Schulich School of Medicine and Dentistry, University of Western Ontario, London, Ont., Canada.
Hegele
Robert A
RA
D000293:Adolescent; D001647:Bile Acids and Salts / Q000378:metabolism; D002648:Child; D050171:Dyslipidemias / Q000145:classification / Q000235:genetics / Q000378:metabolism / Q000628:therapy; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics / Q000378:metabolism / Q000628:therapy; D006953:Hyperlipoproteinemia Type IV / Q000235:genetics / Q000378:metabolism / Q000628:therapy; D007009:Hypolipoproteinemias / Q000235:genetics / Q000378:metabolism / Q000628:therapy; D009154:Mutation; D000071449:Proprotein Convertase 9; D043484:Proprotein Convertases; D012697:Serine Endopeptidases / Q000235:genetics*
D001647:Bile Acids and Salts; C472125:PCSK9 protein, human; D000071449:Proprotein Convertase 9; D043484:Proprotein Convertases; D012697:Serine Endopeptidases