TY - JOUR
T1 - Remarkable variability in renal disease in a large Slovenian family with Fabry disease
AU - Verovnik, Franc
AU - Benko, Davorin
AU - Vujkovac, Bojan
AU - Linthorst, Gabor E.
PY - 2004
Y1 - 2004
N2 - Following the diagnosis of Fabry disease in a 45-year-old male, in 31 family members alpha-galactosidase A (alpha-Gal) activity in leucocytes was measured and mutation analysis of the alpha-Gal gene was performed. In the proband, the unique mutation A10523G/N272S in exon 6 was found, which was subsequently detected in seven males (of which one twin) and 10 female subjects. All males showed decreased to absent alpha-Gal A activity in leucocytes, but three out of 10 female subjects had alpha-Gal A activities within normal range. Although all male patients had symptoms of classical Fabry disease, such as acroparesthesias, hypohydrosis and heat-intolerance, there was considerable variability in organ involvement, especially in deterioration of renal function. Detailed studies of large families with Fabry disease may give insight into factors that influence the phenotype of this disorder
AB - Following the diagnosis of Fabry disease in a 45-year-old male, in 31 family members alpha-galactosidase A (alpha-Gal) activity in leucocytes was measured and mutation analysis of the alpha-Gal gene was performed. In the proband, the unique mutation A10523G/N272S in exon 6 was found, which was subsequently detected in seven males (of which one twin) and 10 female subjects. All males showed decreased to absent alpha-Gal A activity in leucocytes, but three out of 10 female subjects had alpha-Gal A activities within normal range. Although all male patients had symptoms of classical Fabry disease, such as acroparesthesias, hypohydrosis and heat-intolerance, there was considerable variability in organ involvement, especially in deterioration of renal function. Detailed studies of large families with Fabry disease may give insight into factors that influence the phenotype of this disorder
U2 - https://doi.org/10.1038/sj.ejhg.5201184
DO - https://doi.org/10.1038/sj.ejhg.5201184
M3 - Article
C2 - 15162124
SN - 1018-4813
VL - 12
SP - 678
EP - 681
JO - European journal of human genetics
JF - European journal of human genetics
IS - 8
ER -