Does this patient have glomerulocystic kidney disease (GCKD)? Glomerulocystic kidney disease (GCKD) is a rare form of hereditary renal cystic disease characterized by cystic dilation of Bowman’s capsule and the initial proximal convoluted tubule. The dilated Bowman spaces are lined by a flattened epithelium and contain rudimentary glomerular tufts. On ultrasonographic imaging, the kidneys can…
Does this patient have tuberous sclerosis complex? Tuberous sclerosis complex (TSC) is a systemic genetic disease characterized by renal cysts and skin lesions, as well as hamartomas in multiple organs. Major physical manifestations of TSC include: hypomelanotic macules, facial angiofibromas, periungual fibromas, and collagenomas (shagreen patches) as well as hamartomatous polyps of the rectum, gingival…
Does this patient have Fabry disease? Fabry disease is a genetic lysosomal storage disorder caused by defects in the GLA gene on the X chromosome, leading to a deficiency in alpha-galactosidase A. This leads to an accumulation of glycosphingolipids in multiple tissues and cell types, with subsequent organ dysfunction related to direct deposition of the…
