1. Report of hereditary persistence of alpha-fetoprotein in a Spanish family: molecular basis and clinical concerns
- Author
-
José Vidal, Ignacio Catalán, José R. Blesa, Miguel Bixquert, Lourdes Igual, Remedios Giner-Durán, José Hernández-Yago, and Marı́a L Lacalle
- Subjects
Persistence (psychology) ,Male ,Cirrhosis ,Molecular Sequence Data ,Physiology ,Clinical report ,Medicine ,Humans ,Gene ,Tumor marker ,Genetics ,Benign trait ,Family Health ,Hepatology ,Base Sequence ,business.industry ,Middle Aged ,medicine.disease ,digestive system diseases ,Pedigree ,Amino Acid Substitution ,Spain ,Trait ,Female ,alpha-Fetoproteins ,business ,Foetal malformation - Abstract
The serum level of alpha-fetoprotein in normal adults is lower than 10 ng/ml. High levels of alpha-fetoprotein in adults are linked to cirrhosis, acute or chronic hepatitis, hepatocellular carcinomas and other pathologies, as well as to foetal malformation, and this protein is therefore used as a regular clinical marker for these diseases. We report a Spanish family in which very high levels of alpha-fetoprotein have been detected in nine members from the screening of a total of 17 relatives. These levels of alpha-fetoprotein are not accompanied by a causing pathology, are inherited as an autosomal dominant genetic trait, and are associated to a G--A substitution at position -116 of the 5'-flanking region of the alpha-fetoprotein gene. This is an unusual benign trait of hereditary persistence of alpha-fetoprotein. This paper provides a detailed clinical report of the family including a study of the molecular basis of this trait. The desirability of a test to detect and/or rule out this benign trait in adults with abnormal levels of alpha-fetoprotein is considered.
- Published
- 2003