The impact of modern endourological techniques in the treatment of a century old disease--medullary sponge kidney with associated nephrolithiasis.

The remarkable progresses of imagistic and interventional techniques that have been implemented during the last decades facilitated the diagnostic and allowed the treatment indication changes for numerous renal disorders. The purpose of the present lecture was to outline a data review concerning a renal anomaly first described one century ago as well as to evaluate the impact of endourologic technical progresses over the therapeutic management of the respective disease. The medullary sponge kidney (MSK) or Cacchi-Ricci disorder represents a disturbance in the renal development characterized by the cystic type dilation and diffuse precalyceal ducts ectasias. The disease is also known as precalyceal tubular ectasia, pyramidal sponge kidney or cystic dilation of the renal collecting ducts MSK patients are most often asymptomatic, the diagnosis being emphasized in light of the investigations imposed by related complications such as renal stones, urinary tract infections (pyelonephritis), renal tubes acidosis or urine concentration defects.

Medullary sponge kidney (Lenarduzzi-Cacchi-Ricci disease): a Padua Medical School discovery in the 1930s.

The introduction of radiological contrast media and intravenous (i.v.) urography in clinical diagnostics in the 1930s enabled the discovery of several diseases, including the medullary sponge kidney (MSK). MSK is a renal malformation characterized by cystic anomalies of precalyceal ducts, which is frequently associated with nephrocalcinosis and renal stones. Although it was first recognized by G Lenarduzzi in 1939, its thorough description was the result of the ante litteram multidisciplinary cooperation between a radiologist (Lenarduzzi), a urologist (Cacchi), and a pathologist (Ricci), all at the Padua University Hospital. These authors 'established' the paradigm for its diagnosis that is still used today. I.v. urography is the gold standard for the diagnosis of MSK, but as the technique is used less and less, there is a concrete possibility of this renal condition being forgotten in the future. Although the pathogenesis of MSK has yet to be elucidated, its association with different malformative conditions supports the idea that it is a developmental disorder. Recent findings suggest that MSK may be the consequence of a disruption of the ureteral-bud/metanephric-blastema interface.

Renal acidification defects in medullary sponge kidney.

Thirteen patients with medullary sponge kidney underwent a short ammonium chloride loading test to investigate their renal acidification capacity. All but 1 presented with a history of recurrent renal calculi and showed bilateral widespread renal medullary calcification on X-ray examination. Nine patients had some form of renal acidification defect; 8 had the distal type of renal tubular acidosis, 2 the complete and 6 the incomplete form. One patient had proximal renal tubular acidosis. These findings, which suggest that renal acidification defects play an important role in the pathogenesis of renal calculi in medullary sponge kidney, have considerable therapeutic implications.

Congenital hepatic fibrosis and cerebral aneurysm in a 32-year-old woman.

Congenital hepatic fibrosis has been associated with a number of visceral abnormalities, but only rarely with cerebral aneurysms. We report a case of a 32-year-old woman with congenital hepatic fibrosis and a subarachnoid hemorrhage secondary to a ruptured cerebral aneurysm. A review of the literature reveals only two previous reports of such an association and both were also associated with polycystic kidney disease. Our patient is unique in that she does not have polycystic kidney disease but rather medullary sponge kidney.

Marfan syndrome and medullary sponge kidney: case report and speculation on pathogenesis.

The case of a 16 year old boy with Marfan syndrome, recurrent nephrolithiasis, and bilateral Medullary Sponge Kidney (MSKD) is described. This association was not previously described.