Functional studies of new GLA gene mutations leading to conformational Fabry disease.

Fabry Disease (FD) is an X-linked multisystemic lysosomal disorder caused by mutations of alpha-galactosidase (GLA) gene. Only a few of the 450 genetic lesions identified so far have been characterised by in vitro expression studies. Thus the significance of newly identified GLA nucleotide variants in FD patients which lead to alpha-galactosidase (GAL-A) amino acid substitutions or intronic changes can be uncertain.

Aging of silastic peritoneal catheters.

Increasing the survival of patients on CAPD is related to the long-term reliability of the peritoneal access. Six silicone Tenckhoff catheters (with strip or diffuse barium sulphate inclusion) removed after 39-69 months because of the appearance of external segment fissures, were analysed by scanning electron microscopy (SEM) and infra-red spectroscopy with attenuated total refractance (ATR). The extracorporeal portion of the catheters showed (by ATR) a more prominent oxidation peak on the external than the internal surface; SEM showed marks and cracks on the external surface and exfoliation and flattening of the silastic reticle on the intraluminal surface.

Dextran deposits in tissues of patients undergoing haemodialysis.

Recently the possible storage of dextran-related material in patients undergoing regular haemodialysis has been suggested. We examined biopsy and autopsy specimens of 32 patients treated with regular haemodialysis for 61 +/- 34 months. All patients received dextran-40 as a plasma expander because of hypotension during haemodialysis.