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Nephrol Dial Transplant (2003) 18: 182-186
© 2003 European Renal Association-European Dialysis and Transplant Association

Brief Reports

Clinical features and genetic analysis of a Chinese kindred with Fabry's disease

Kai-Chung Tse, Kwok-Wah Chan1, Vicky Pui-Chi Tin1, Pok-Siu Yip, Sydney Tang2, Fu-Keung Li, Yiu-Wing Ho2, Kar-Neng Lai and Tak-Mao Chan

Department of Medicine and 1 Department of Pathology, The University of Hong Kong, Queen Mary Hospital, Hong Kong, People's Republic of China and 2 Department of Medicine, United Christian Hospital, Hong Kong, People's Republic of China

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.

Methods and 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.

Keywords: {alpha}-galactosidase A; Chinese; Fabry's disease; genetic mutation

Correspondence and offprint requests to: Prof. Tak-Mao Chan, Department of Medicine, Queen Mary Hospital, 102 Pokfulam Road, Hong Kong, People's Republic of China. Email: kctseqmh{at}sinatown.com


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