Renal phenotypes correlate with genotypes in unrelated individuals with tuberous sclerosis complex in China.

Cong LuoYe ZhangYu-Shi ZhangMing-Xin ZhangJun NingMin-Feng ChenYuan LiLin QiXiong-Bing ZuYang-Le LiYi Cai

Published in: Orphanet journal of rare diseases (2022)

Patients with TSC2 variants exhibit more severe renal phenotypes, especially those associated with renal angiomyolipomas (AML), and they often require nephrectomy/partial nephrectomy or mTOR medication. Detection of the genotype is helpful in TSC management.

Keyphrases

acute myeloid leukemia
healthcare
early onset
copy number
robot assisted
emergency department
electronic health record