Detailed assessment of renal function in a proband with Harboyan syndrome caused by a novel homozygous SLC4A11 nonsense mutation.

Background/aims: To identify the underlying molecular genetic cause of disease in a patient with Harboyan syndrome and to perform a detailed assessment of her renal function. We also assessed the influence of the SLC4A11 mutation identified on the corneal endothelium in the heterozygous state.

Methods: A 55-year-old female was examined ophthalmologically, audiologically and nephrologically including 24-hour urine collection.

Nationwide biopsy survey of renal diseases in the Czech Republic during the years 1994-2011.

Background: We describe data on 10,472 renal biopsies gathered by the Czech Registry of Renal Biopsies over a period of 18 years.

Methods: We assessed the main demographic, clinical and histological data of individuals who underwent renal biopsies of native kidneys in 31 centers in the Czech Republic (population 10.3 million) during the period 1994-2011.

The coincidence of IgA nephropathy and Fabry disease.

Background: IgA nephropathy (IgAN) is the most common glomerulonephritis, which may also coexist with other diseases. We present two patients with an unusual coincidence of IgAN and Fabry disease (FD).

Case Presentation: A 26 year-old man underwent a renal biopsy in February 2001.