Renal involvement in tuberous sclerosis complex and von Hippel-Lindau disease: shared disease mechanisms?
Tuberous sclerosis complex and von Hippel-Lindau disease are distinct autosomal dominant tumor suppressor syndromes that can exhibit similar renal phenotypes and seem to share some signaling pathway components. Similarities exist in the current clinical management of, and the newly identified potential therapeutic approaches for, these conditions. This Review summarizes the pathophysiologic and therapeutic overlap between tuberous sclerosis complex and von Hippel-Lindau disease and highlights the results of recent drug trials in these settings.
Siroky
Brian J
BJ
Division of Nephrology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Czyzyk-Krzeska
Maria F
MF
Bissler
John J
JJ
D018249:Adenoma, Oxyphilic / Q000235:genetics; D018207:Angiomyolipoma / Q000235:genetics; D002292:Carcinoma, Renal Cell / Q000235:genetics; D049109:Cell Proliferation; D006801:Humans; D051793:Hypoxia-Inducible Factor 1 / Q000378:metabolism; D052177:Kidney Diseases, Cystic / Q000235:genetics*; D007680:Kidney Neoplasms / Q000235:genetics*; D015398:Signal Transduction; D014402:Tuberous Sclerosis / Q000175:diagnosis / Q000235:genetics*; D025521:Tumor Suppressor Proteins / Q000378:metabolism; D006623:von Hippel-Lindau Disease / Q000175:diagnosis / Q000235:genetics*
D051793:Hypoxia-Inducible Factor 1; D025521:Tumor Suppressor Proteins