Aceruloplasminemia in an asymptomatic patient with a new mutation. Diagnosis and family genetic analysis.
A 39-year-old asymptomatic man showed elevated serum ferritin levels, mild hypertransaminasemia and serum ceruloplasmin almost undetectable. There was histological iron accumulation within the hepatocytes and also in the central nervous system (MRI). A genetic analysis revealed a new missense mutation in the ceruloplasmin gene. Two of the other four siblings were also affected by this mutation.
Pérez-Aguilar
Fernando
F
Hepatogastroenterology Service, Hospital Universitario La Fe, Avda. Campanar 21, 46009 Valencia, Spain. fperezaguilar@terra.es
Burguera
Juan A
JA
Benlloch
Salvador
S
Berenguer
Marina
M
Rayón
Jose M
JM
D000328:Adult; D001921:Brain / Q000473:pathology; D002570:Ceruloplasmin / Q000235:genetics* / Q000378:metabolism*; D005293:Ferritins / Q000097:blood; D022781:Hepatocytes / Q000378:metabolism; D006801:Humans; D007501:Iron / Q000378:metabolism; D019190:Iron Overload / Q000235:genetics* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree
D005293:Ferritins; D007501:Iron; D002570:Ceruloplasmin