G Ital Nefrol
November 2015
Introduction: Mc Ardles disease, also known as Type V glycogen storage disease, is a rare deficiency of the enzyme glycogen phosphorylase in muscle cells, inherited as an autosomal recessive trait. In the absence of this enzyme, muscles cannot break down glycogen during exercise, so in patients affected by McArdles disease even moderate physical activity produces cramps, pain and fatigue. Anaerobic activity leads to severe fixed contractures and rhabdomyolisis with myoglobinuria and raised serum creatine-kinase, which, in turn, can lead to acute renal failure.
View Article and Find Full Text PDFEmphysematous pyelonephritis is a rare, necrotizing infection of the kidney and the perirenal space resulting in the formation of gas in both structures and associated with a high mortality rate. In 90% of cases it affects one kidney only; in the remaining 10% with bilateral emphysematous pyelonephritis aggressive surgical intervention may be required. Women are much more frequently affected than men, with diabetes mellitus (in 70-90% of cases) and urinary tract obstruction being common predisposing conditions.
View Article and Find Full Text PDFClin Cases Miner Bone Metab
May 2008
Randall's plaques are very common in idiopathic calcium-oxalate nephrolithiasis. These papillary plaques have an apatite mineral structure. While these calcium deposits are generally assumed to be secondary to a purely physico-chemical phenomenon, we advance the hypothesis that they form due to a truly ectopic biomineralization in the renal tissue, and that Henle's loop epithelial cells, or pericyte-like interstitial cells, or papillary stem cells differentiating along a bone lineage might be involved.
View Article and Find Full Text PDF