Abstract
The medullary sponge kidney is also known as Lenarduzzi's kidney or Cacchi and Ricci's disease from the first Italian authors who described its main features. A review of the scientific literature underlines particular rarity of the association of MSK with developmental abnormalities of the lower urinary tract and genital tract such as hypospadias and bilateral cryptorchidism. The work presented is the only one in the scientific literature that shows the association between the medullary sponge kidney and the testicular dysgenesis syndrome. A question still remains unanswered: are the MSK and TDS completely independent malformation syndromes occurring, in this case, simultaneously for a rare event or are they different phenotypic expressions of a common malformative mechanism? In the future we hope that these questions will be clarified.
Highlights
The medullary sponge kidney (MSK), known as Lenarduzzi’s kidney or Cacchi and Ricci’s disease from the first Italian authors who described its main features [1], is an uncommon renal malformation that usually occurs with nephrocalcinosis and urolithiasis
We report the case of MSK associated with testicular dysgenesis syndrome (TDS)
The presence of LUTS and the restrictive uroflowmetry tracing are caused by stricture of the urethra which is evident at the RX urethrocystography
Summary
The medullary sponge kidney (MSK), known as Lenarduzzi’s kidney or Cacchi and Ricci’s disease from the first Italian authors who described its main features [1], is an uncommon renal malformation that usually occurs with nephrocalcinosis and urolithiasis. MSK is generally considered to be a congenital disorder even if there is no clear scientific evidence demonstrating the unique congenital nature of the disease. The condition can be associated with other renal and/or extrarenal developmental abnormalities that characterize, in some cases, specific complex genetic syndromes [2]. A review of the scientific literature underlines particular rarity of the association of MSK with developmental abnormalities of the lower urinary tract and genital tract such as hypospadias and bilateral cryptorchidism. We report the case of MSK associated with testicular dysgenesis syndrome (TDS)
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