Ischemic damage is thought to cause outflow obstruction resulting in glomerular cyst formation.
(94,98,215-217) However, in combination with the abnormal presence of uromodullin within glomerular cysts, (218,219) a possible mechanism for glomerular cyst formation has been proposed as follows: tubular obstruction and subsequent reflux of prourine, containing uromodullin, into the Bowman space causes glomerular cysts.
Earlier reports have depicted glomerular cysts and have portrayed similar cases of "congenital cystic kidney with glomerular cysts" (2,3,4) (Figure 1, A and B).
Glomerular cysts are arbitrarily defined as Bowman space dilatation greater than 2 to 3 times normal size.
(7) In this study we propose a diagnostic classification in 5 categories of the entities presenting with glomerular cysts (Table 1): type I, PKD presenting as a GCK variant of autosomal recessive polycystic kidney disease (ARPKD)/ADPKD (with or without liver disease); type II, hereditary GCK synonymous with GCKD.
A summary of the pathogenesis of glomerular cysts is complemented by an in silico analysis of existing data sets, which delineates common molecular and genetic relationships between ostensibly distinct clinical entities.
(20,45,46,49,54,55) A possible explanation for the different clinical presentations and variability in rate of progression is that glomerular cysts may affect only a minority of the glomeruli, but the fact remains that most cases progress to end-stage renal disease.
In adults the radiologic diagnosis of GCK is less problematic, but glomerular cysts are frequently missed because their detection is below the threshold of ultrasonography or computed tomography.
Histologically, glomerular cysts were present (Figure 3, A) but cysts were also seen in the medulla; these cysts were focally fusiform and suggested a tubular origin (Figure 3, B).
described in 1987 five patients with similar findings: a) renal cystic dysplasia with abnormally differentiated ducts, deficient nephron differentiation and glomerular cysts
, b) hepatic abnormality consisting of enlarged portal areas containing numerous elongated biliary ducts, with a tendency to perilobular fibrosis, and c) pancreatic abnormality consisting offibrosis and cysts, with a diminution of parenchymal tissue (3).