title: The hereditary hyperferritinemia-cataract syndrome: a family study.
abstract: Ferritin is an acute-phase reactant that is elevated in the course of infectious, inflammatory, autoimmune, and oncological diseases and the hemophagocytic syndrome. In asymptomatic patients, isolated hyperferritinemia may be due to different causes depending on whether or not it is accompanied by iron overload. Hyperferritinemia values above 300 ng/ml and an excess of body iron levels may be indicative of hemochromatosis. However, if such values develop in the absence of iron overload, they may be secondary to hemochromatosis type 4a (ferroportin disease) or more often to hereditary hyperferritinemia-cataract syndrome (HHCS; Aguilar-Martinez et al., Am J Gastroenterol 100:1185-1194, 2005; Ferrante et al., Eur J Gastroenterol Hepatol 17:1247-1253, 2005). HHCS results from different mutations in the L-ferritin gene (FTL) on chromosome 19 (19q13.1), causing autosomal dominant transmission (Bertola et al., Curr Drug Targets Immune Endocr Metabol Disord 4:93-105, 2004). We present a child with HHCS due to the allelic variant c.-167C>T (C33T) in the iron-responsive element region of the FTL gene. When pediatricians encounter an asymptomatic patient with isolated hyperferritinemia in the absence of iron overload, they should consider the possibility of HHCS, especially if other members of the family have developed cataracts from a young age.
authors.affiliation: Servicio de Pediatría, Hospital Infantil Universitario Niño Jesús, Madrid, Spain. jalvarez.hnjs@salud.madrid.org
authors.forename: Javier
authors.initials: J
authors.lastname: Álvarez-Coca-González
authors.forename: María-Isabel
authors.initials: MI
authors.lastname: Moreno-Carralero
authors.forename: Jorge
authors.initials: J
authors.lastname: Martínez-Pérez
authors.forename: Manuel
authors.initials: M
authors.lastname: Méndez
authors.forename: Marta
authors.initials: M
authors.lastname: García-Ros
authors.forename: María-Josefa
authors.initials: MJ
authors.lastname: Morán-Jiménez
mesh_terms: D000367:Age Factors; D001052:Apoferritins / Q000235:genetics*; D002386:Cataract / Q000151:congenital / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D002675:Child, Preschool; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics; D003937:Diagnosis, Differential; D005190:Family; D006801:Humans; D007501:Iron / Q000378:metabolism*; D019189:Iron Metabolism Disorders / Q000151:congenital / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D035925:Iron-Regulatory Proteins / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree; D017422:Sequence Analysis, DNA
chemical_list: C507433:FTL protein, human; D035925:Iron-Regulatory Proteins; D001052:Apoferritins; D007501:Iron