Abstract
Glomerulocystic kidney disease (GCKD) is an uncommon type of renal cystic disease characterized by cystic dilatation of Bowman's space and atrofy of the glomerular tuft. We report a 15-year-old boy who had asymptomatic choronic stable renal failure (CCr: 66.3-70.7ml/min/1.73m2). His renal biopsy specimens showed cystic dilatation of Bowman's space and atrofy of the glomerular tuft. His kidneys were small (right: 8.1×3.5cm, left: 7.8×3.9cm) without any other malformation of the urinary tract. His 42-year-old mother had small kidneys and asymptomatic chronic renal failure (CCr: 57.8ml/min/1.73m2). As our patients' findings satisfied the cliteria defined by Rizzoni et. al., we diagnosed this case as familial hypoplastic GCKD. This is the first report of familial hypoplastic GCKD in a Japanese family.
