Reference Work Entry

Encyclopedia of Molecular Mechanisms of Disease

pp 1275-1278

Medullary Sponge Kidney

  • Michele BiscegliaAffiliated withDepartment of Pathology, IRCCS “Casa Sollievo della Sofferenza” Hospital
  • , Carlos GallianiAffiliated withDepartment of Pathology, Cook Children’s Hospital


Maladie de Cacchi-Ricci; Lenarduzzi-Cacchi-Ricci disease; Papillary duct ectasia; Cystic disease of renal pyramids; MSK

Definition and Characteristics

Medullary sponge kidney (MSK) is a developmental abnormality characterized by dilatation of the collecting ducts associated with defective urinary acidification and concentration [1]. MSK typically affects the collecting ducts of all papillae in both kidneys, but may be segmental, involve one or more renal papillae, one or both kidneys, or a horseshoe kidney. While dilatation of the collecting ducts is present at birth, clinical manifestations of hematuria, urinary tract infection, nephrocalcinosis, and nephrolithiasis emerge over a wide age range. Most MSK are sporadic, a few have autosomal dominant inheritance. Important associations of MSK include the Beckwith–Wiedemann syndrome/hemihyperplasia (13%), Ehlers-Danlos syndrome, autosomal dominant polycystic kidney disease, Caroli syndrome, hepa ...

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