The Development and Current Status in the Diagnosis and Management of Tuberous Sclerosis Complex Associated with Renal Angiomyolipoma in China / 罕见病研究

ABSTRACT

Tuberous sclerosis complex(TSC) is a rare autosomal dominant genetic disorder caused by mutations in the TSC1 or TSC2 genes. The disease can cause multiple organ lesions. The most common renal lesions are renal angiomyolipoma(RAML). In recent years, China has made progresss in the understanding of TSC-RAML, so that the standardization of the diagnosis and management of TSC-RAML have improved. Efforts have been taken in the studies of the pathogenesis and treatment of TSC-RAML. This article reviews the diagnosis, therapy, and research development of TSC-RAML in China.