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.

Tuttolomondo, A., Duro, G., Pecoraro, R., Simonetta, I., Miceli, S., Colomba, P., et al. (2015). A family with various symptomatology suggestive of Anderson-Fabry disease and a genetic polymorphism of alpha galactosidase A gene. CLINICAL BIOCHEMISTRY, 48(1-2), 55-62 [10.1016/j.clinbiochem.2014.09.018].

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

Tuttolomondo, Antonino;Duro, Giovanni;Pecoraro, Rosaria;Simonetta, Irene;Miceli, Salvatore;Colomba, Paolo;Zizzo, Carmela;Di Chiara, Tiziana;Scaglione, Rosario;Corpora, Francesca;Pinto, Antonio;DELLA CORTE, Vittoriano
2015

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.
Settore MED/09 - Medicina Interna
www.elsevier.com/locate/clinbiochem
Tuttolomondo, A., Duro, G., Pecoraro, R., Simonetta, I., Miceli, S., Colomba, P., et al. (2015). A family with various symptomatology suggestive of Anderson-Fabry disease and a genetic polymorphism of alpha galactosidase A gene. CLINICAL BIOCHEMISTRY, 48(1-2), 55-62 [10.1016/j.clinbiochem.2014.09.018].
File in questo prodotto:
File Dimensione Formato  
Fabry.pdf

Solo gestori archvio

Tipologia: Versione Editoriale
Dimensione 1.68 MB
Formato Adobe PDF
1.68 MB Adobe PDF   Visualizza/Apri   Richiedi una copia
1-s2.0-S0009912014006973-main.pdf

Solo gestori archvio

Descrizione: article in press
Tipologia: Versione Editoriale
Dimensione 2.56 MB
Formato Adobe PDF
2.56 MB Adobe PDF   Visualizza/Apri   Richiedi una copia

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/10447/329014
Citazioni
  • ???jsp.display-item.citation.pmc??? 7
  • Scopus 10
  • ???jsp.display-item.citation.isi??? 10
social impact