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A Tuberous Sclerosis Family with TSC1 (c.1030-1G〉A) Mutation Found through a Female Presenting as Multiple Ground Glass Nodules in Chest Computed Tomography Incidentally

A Tuberous Sclerosis Family with TSC1 (c.1030-1G〉A) Mutation Found through a Female Presenting as Multiple Ground Glass Nodules in Chest Computed Tomography Incidentally
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摘要 Chest computed tomography (CT) screening is becoming more popular in China. Therefore, more and more rare diseases and early stages of lung diseases were found. Here, we reported a case who presented as multiple ground glass nodules incidentally found in chest CT scan who had been suspected as synchronous multiple primary lung cancer (SMPLC) and/or metastatic cancer. She was finally diagnosed as tuberous sclerosis complex (TSC), an autosomal-dominant disorder characterized by the fort-nation of hanaartomatous lesions in the skin, eyes, kidney, and central nervous system. Tuberous sclerosis complex 1 (TSC1) gene mutation (c.1030-1G〉A) was found in her and her family members. This is a very rare report in China. Chest computed tomography (CT) screening is becoming more popular in China. Therefore, more and more rare diseases and early stages of lung diseases were found. Here, we reported a case who presented as multiple ground glass nodules incidentally found in chest CT scan who had been suspected as synchronous multiple primary lung cancer (SMPLC) and/or metastatic cancer. She was finally diagnosed as tuberous sclerosis complex (TSC), an autosomal-dominant disorder characterized by the fort-nation of hanaartomatous lesions in the skin, eyes, kidney, and central nervous system. Tuberous sclerosis complex 1 (TSC1) gene mutation (c.1030-1G〉A) was found in her and her family members. This is a very rare report in China.
出处 《Chinese Medical Journal》 SCIE CAS CSCD 2017年第20期2510-2512,共3页 中华医学杂志(英文版)
关键词 Computed Tomography FAMILIAL Multiple Nodules Tuberous Sclerosis: Tuberous Sclerosis 1 Gene Mutation Computed Tomography Familial Multiple Nodules Tuberous Sclerosis: Tuberous Sclerosis 1 Gene Mutation
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