Clinical features and genetic analysis of a Chinese kindred with Fabry's disease.
BACKGROUND
Fabry's disease is an X-linked recessive inborn error of glycosphingolipid catabolism resulting from deficient activity of lysosomal enzyme alpha-galactosidase A causing occlusive microvascular diseases affecting the kidney, heart, peripheral nerves and brain. It is an uncommon disease in the Oriental population.


RESULTS
We report a Chinese kindred of Fabry's disease and the relevant clinical features are discussed. The diagnosis of Fabry's disease was based on serum alpha-galactosidase A activity and typical histological features from renal biopsy in the index patient. Genetic analysis of two hemizygous male patients revealed a missense mutation predicting a leucine to proline substitution (L14P) in the alpha-galactosidase gene causing classical Fabry's disease in this family. This is a novel point mutation not described previously in the literature and the second report describing novel genetic mutations for Fabry's disease in Chinese patients.


CONCLUSIONS
Fabry's disease is rare in Chinese patients but this diagnosis should be considered in patients with positive family history of kidney disease and relevant clinical features.
Tse
Kai-Chung
KC
Department of Medicine, The University of Hong Kong, Queen Mary Hospital, Hong Kong, People's Republic of China.
Chan
Kwok-Wah
KW
Tin
Vicky Pui-Chi
VP
Yip
Pok-Siu
PS
Tang
Sydney
S
Li
Fu-Keung
FK
Ho
Yiu-Wing
YW
Lai
Kar-Neng
KN
Chan
Tak-Mao
TM
D000328:Adult; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002681:China; D002871:Chromosome Banding; D041321:Chromosomes, Human, X; D017931:DNA Primers; D005091:Exons; D000795:Fabry Disease / Q000201:enzymology / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011507:Proteinuria; D051437:Renal Insufficiency / Q000209:etiology; D000519:alpha-Galactosidase / Q000235:genetics*
D017931:DNA Primers; D000519:alpha-Galactosidase