title: Clinical features and genetic analysis of a Chinese kindred with Fabry's disease.
abstract: 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.
authors.affiliation: Department of Medicine, The University of Hong Kong, Queen Mary Hospital, Hong Kong, People's Republic of China.
authors.forename: Kai-Chung
authors.initials: KC
authors.lastname: Tse
authors.forename: Kwok-Wah
authors.initials: KW
authors.lastname: Chan
authors.forename: Vicky Pui-Chi
authors.initials: VP
authors.lastname: Tin
authors.forename: Pok-Siu
authors.initials: PS
authors.lastname: Yip
authors.forename: Sydney
authors.initials: S
authors.lastname: Tang
authors.forename: Fu-Keung
authors.initials: FK
authors.lastname: Li
authors.forename: Yiu-Wing
authors.initials: YW
authors.lastname: Ho
authors.forename: Kar-Neng
authors.initials: KN
authors.lastname: Lai
authors.forename: Tak-Mao
authors.initials: TM
authors.lastname: Chan
mesh_terms: 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*
chemical_list: D017931:DNA Primers; D000519:alpha-Galactosidase