A family with various symptomatology suggestive of Anderson-Fabry disease and a genetic polymorphism of alpha galactosidase A gene

Vittoriano Della Corte, Antonio Pinto, Rosario Scaglione, Tiziana Di Chiara, Irene Simonetta, Antonino Tuttolomondo, Francesca Corpora, Rosaria Pecoraro, Carmela Zizzo, Paolo Colomba, Giovanni Duro, Carmela Zizzo, Giovanni Duro, Paolo Colomba, Salvatore Miceli

Risultato della ricerca: Articlepeer review

11 Citazioni (Scopus)

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 3.7. nmol/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 30. year-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 41. year-old daughter that presented with acroparesthesias, hypoidrosis since she was very young. The patient's alpha galactosidase A activity was 4.1. nmol/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, 9. year-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 1.65. nmol/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 C. <. T. Discussion: A recent study reported that IVS4. +. 68 A. >. G, 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.
Lingua originaleEnglish
pagine (da-a)55-62
Numero di pagine8
RivistaClinical Biochemistry
Volume48
Stato di pubblicazionePublished - 2015

All Science Journal Classification (ASJC) codes

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