Tuberous Sclerosis Complex With Renal Angiomyolipomas:Cases Report And Literature Review

Tuberous sclerosis complex(TSC) is a kind of rare autosomal dominant genetic disorder characterized by benign growth of normal tissues. We define it as tuberous sclerosis complex with renal angiomyolipoma(TSC-AML) when TSC causes renal angiomyolipomas(AML). TSC-AML is an orphan disease in the department of urology. As a consequence, TSC-AML is often misdiagnosed as sporadic AML and cannot get correct and effective treatment. Acute rupture hemorrhage and renal failure of TSC-AML kidney are two leading causes of death in patients with TSC. The international consensus conference on tuberous sclerosis in 2012 proposed the latest TSC guidelines for diagnosis and treatment. During the conference, TSC-AML received high attention as TSC's second major concurrent diseases. Currently, the alternative treatment options of TSC-AML include conservative(drug) treatment, interventional therapy and surgical treatment. Surgery includes nephrectomy and heminephrectomy. The treatment research of mammalian target of rapamycin(m TOR) inhibitors for TSC-AML has been in full swing in clinic study, this method is expected to become the specificity means of the TSC-AML, avoiding patients from surgery pain. Selective vascular embolization and cryoablation can be used to treat acute complications of TSC-AML. It has the advantages of small trauma, quick recovery, good effect and so on. Partial nephrectomy is recommended in surgical process to keep nephron. Along with the development of endoscopic techniques, partial nephrectomy under the condition of minimally invasive will get ideal effect. We focused on patients who visited our department from October 2013 to September 9. Eventually, four typical TSC-AML cases was chose to be introduced in the paper. Related contents of TSC-AML are discussed to provide reference for clinicians to make reasonable treatment plan.