The hereditary hyperferritinemia-cataract syndrome: a family study.
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.
Álvarez-Coca-González
Javier
J
Servicio de Pediatría, Hospital Infantil Universitario Niño Jesús, Madrid, Spain. jalvarez.hnjs@salud.madrid.org
Moreno-Carralero
María-Isabel
MI
Martínez-Pérez
Jorge
J
Méndez
Manuel
M
García-Ros
Marta
M
Morán-Jiménez
María-Josefa
MJ
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
C507433:FTL protein, human; D035925:Iron-Regulatory Proteins; D001052:Apoferritins; D007501:Iron