Article
Identification of GDNF gene sequence variations in patients with medullary sponge kidney disease.
Clinical journal of the American Society of Nephrology : CJASN - 1 Jul 2010
Torregrossa Rossella, Anglani Franca, Fabris Antonia, Gozzini Alessia, Tanini Annalisa, Del Prete Dorella, Cristofaro Rosalba, Artifoni Lina, Abaterusso Cataldo, Marchionna Nicola, Lupo Antonio, D'Angelo Angela, Gambaro Giovanni
Abstract excerpt
BACKGROUND AND OBJECTIVES: Medullary sponge kidney (MSK) is a rare nephropathy characterized by cystic anomalies of precalyceal ducts, nephrocalcinosis, renal stones, and tubule dysfunctions. Its association with various malformations and cases of familial aggregation supports the conviction that genetic factors are involved, but no genetic studies have been conducted to date. It is hypothesized that MSK is due...
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