Clinical manifestations and therapeutic perspectives in tuberous sclerosis, a rare multi-organ genetic disease with renal involvement
Caloro, G.Apollonia.; Spinelli, M.; Campobasso, N.; Esposito, T.; Gesualdo, L.; Montinaro, V.
Giornale Italiano di Nefrologia Organo Ufficiale Della Societa Italiana di Nefrologia 34(3): 7-17
2017
ISSN/ISBN: 0393-5590 PMID: 28700179 Document Number: 691803
Tuberous sclerosis is a rare genetic disease with multiple organ involvement. Renal involvement is manifested by the presence of angiomyolipomas and cysts. Angiomyolipomas due to the progressive increase in size over time can complicate by bleeding that can lead to severe retroperitoneal hemorrhages. Hence, it is important to perform an active surveillance of the masses and to institute therapeutic attempts in order to manage or prevent any complication. We present three clinical cases of three women with various clinical presentations and treated in different ways. Recently, the employment of mTOR inhibitors such as Everolimus has been shown therapeutic efficacy in this disease, especially in terms of a dimensional reduction of renal angiomyolipomas.