A family with various symptomatology suggestive of Anderson-Fabry disease and a genetic polymorphism of alpha galactosidase A gene (Articolo in rivista)

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Label
  • A family with various symptomatology suggestive of Anderson-Fabry disease and a genetic polymorphism of alpha galactosidase A gene (Articolo in rivista) (literal)
Anno
  • 2015-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1016/j.clinbiochem.2014.09.018 (literal)
Alternative label
  • Tuttolomondo A.; Duro G.; Pecoraro R.; Simonetta I.; Miceli S.; Colomba P.; Zizzo C.; Di Chiara T.; Scaglione R.; Della Corte V.; Corpora F.; Pinto A. (2015)
    A family with various symptomatology suggestive of Anderson-Fabry disease and a genetic polymorphism of alpha galactosidase A gene
    in Clinical biochemistry
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Tuttolomondo A.; Duro G.; Pecoraro R.; Simonetta I.; Miceli S.; Colomba P.; Zizzo C.; Di Chiara T.; Scaglione R.; Della Corte V.; Corpora F.; Pinto A. (literal)
Pagina inizio
  • 55 (literal)
Pagina fine
  • 62 (literal)
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  • http://www.ncbi.nlm.nih.gov/pubmed/25281798 (literal)
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  • 48 (literal)
Rivista
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  • 8 (literal)
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  • 1-2 (literal)
Note
  • PubMed (literal)
  • ISI Web of Science (WOS) (literal)
  • Scopus (literal)
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  • CNR--IBIM: Institute of Biomedicine and Molecular Immunology \"A. Monroy\" Palermo U.O.C di Medicina Interna e CardioAngiologia, Dipartimento Biomedico di Medicina Interna e Specialistica, Università degli Studi di Palermo (literal)
Titolo
  • A family with various symptomatology suggestive of Anderson-Fabry disease and a genetic polymorphism of alpha galactosidase A gene (literal)
Abstract
  • BACKGROUND: Anderson/Fabry disease expresses a wide range of clinical variability in patients that it is possible to explain referring to a genetic variability with numerous mutations described in the literature (more than 600). METHODS: We report some clinical cases of some members of a Sicilian family to express phenotypical variability of this disease in subjects with the same genetic mutation RESULTS: The first case was a 59-year-old female. Brain MRI revealed right frontal periventricular white matter of likely vascular-degenerative origin. The proband's alpha galactosidase A activity was 3.7nmol/mL/h. Molecular genetics revealed a polymorphism: -10 C>T; IVS 2-76_80del5; IVS4-16 A>G; IVS6-22 C>T. The second case was a 30year-old male affected by acroparesthesias and hypoidrosis since he was an adolescent. Renal impairment was first detected at age 29; it began with high plasma levels of creatinine and microalbuminuria date. The third case was a 41year-old daughter that presented with acroparesthesias, hypoidrosis since she was very young. The patient's alpha galactosidase A activity was 4.1nmol/mL/h, in whole blood, which is compatible with heterozygote subject for Fabry's disease or healthy control. The fourth case was a male grandson of the proband, 9year-old child. He had a classic gastrointestinal involvement. He complained of recurrent abdominal pain, post prandial bloating and pain. This child's enzyme activity was 1.65nmol/mL/h. In cases 2, 3, and 4, molecular genetics revealed a polymorphism: -10 C>T; IVS 2-76_80del5; IVS4-16 A>G; IVS6-22 CG, IVS6-22C>T polymorphisms occurred in 8.9% and 3.7% of the subjects respectively, and the significance of this haplotype in FD pathology remains unknown but possibly suggestive of Anderson/Fabry disease. (literal)
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