Abstract
Medullary sponge kidney (MSK) is a congenital kidney malformation that is characterized by dilatation of the collecting tubules in the medullary pyramids. Cyst-like areas then form which predispose to nephrocalcinosis, stone formation and recurrent urinary tract infection (UTI). There is an association with defective distal renal tubular acidification and concentration abnormalities such as hypocitraturia. MSK is generally believed to be a sporadic disorder, but an autosomal dominant inheritance is also reported. More recently genetic mutations have been recognised as a possible contributor to the aetiology of the condition. In this article we summarize the available English language literature on the subject of MSK, including its pathogenesis, diagnosis, prognosis and treatment.
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