Control of proteinuria with increased doses of agalsidase alfa in a patient with Fabry disease with atypical genotype-phenotype expression.

Fabry disease is a rare X-linked lysosomal storage disorder of glycosphingolipids, caused by the partial or complete deficiency of the lysosomal enzyme alpha-galactosidase A (a-Gal A). The missense mutation pN215S usually causes a milder form of the disease with isolated cardiac involvement. We report a case of a male Fabry patient with the pN215S mutation and a generalized disease.

The role of melatonin in patients with chronic kidney disease undergoing haemodialysis.

Patients with chronic kidney disease including those undergoing haemodialysis have deranged sleep-wake pattern. In large part this is due to an abnormal circadian cycle of melatonin, a hormone secreted by the pineal gland in the evening and induces sleep. Subjects undergoing automated peritoneal dialysis or nocturnal haemodialysis have better sleep profile compared to those on daytime dialysis.

Slow continuous ultrafiltration in a patient with anomaly of a persistent left superior vena cava.

This paper describes an uncommon case of a patient with anomaly of a persistent left superior vena cava (PLSVC). A 54-year-old man with a history of chronic kidney disease, heart failure, diabetes mellitus and hypertension was admitted to the hospital for worsening dyspnoea. During his hospital stay, heart failure was further deteriorated and he became anuric.