Article
New non-renal congenital disorders associated with medullary sponge kidney (MSK) support the pathogenic role of GDNF and point to the diagnosis of MSK in recurrent stone formers.
Urolithiasis - 1 Aug 2017
Ria Paolo, Fabris Antonia, Dalla Gassa Alessandra, Zaza Gianluigi, Lupo Antonio, Gambaro Giovanni
Abstract excerpt
Medullary sponge kidney (MSK) is a congenital renal disorder. Its association with several developmental abnormalities in other organs hints at the likelihood of some shared step(s) in the embryogenesis of the kidney and other organs. It has been suggested that the REarranged during Transfection (RET) proto-oncogene and the Glial cell line-Derived Neurotrophic Factor (GDNF) gene are defective in patients with...
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