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多灶性微结节性肺泡细胞增生症伴 TSC1 新突变：病例报告。

Multifocal micronodular pneumocyte hyperplasia with a novel mutation in TSC1: a case report.

机构信息

Yongxia Li, Department of Respiratory and Critical Care Medicine, Second Affiliated Hospital of Kunming Medical University, Kunming, China,

出版信息

Croat Med J. 2021 Oct 31;62(5):523-527. doi: 10.3325/cmj.2021.62.523.

DOI:10.3325/cmj.2021.62.523
PMID:34730894
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8596470/
Abstract

We report on a 34-year-old woman diagnosed with tuberous sclerosis complex. The patient was admitted for respiratory manifestations, while multi-organ involvement made the diagnostic process challenging. Genetic testing revealed a novel mutation TSC1 c.2094_2110del (p.His699Ter), which expands the disease-causing variant spectrum. Our results may facilitate the disease diagnostics and help to devise genetic counseling and targeted gene therapy.

摘要

我们报告了一例诊断为结节性硬化症的 34 岁女性患者。该患者因呼吸系统表现入院，而多器官受累使诊断过程具有挑战性。基因检测显示一种新的 TSC1 c.2094_2110del（p.His699Ter）突变，该突变扩展了致病变异谱。我们的研究结果可能有助于疾病的诊断，并有助于制定遗传咨询和靶向基因治疗方案。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c335/8596470/9b80aeb4706a/CroatMedJ_62_0523-F3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c335/8596470/3d04a6a41138/CroatMedJ_62_0523-F1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c335/8596470/91c035aa8c76/CroatMedJ_62_0523-F2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c335/8596470/9b80aeb4706a/CroatMedJ_62_0523-F3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c335/8596470/3d04a6a41138/CroatMedJ_62_0523-F1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c335/8596470/91c035aa8c76/CroatMedJ_62_0523-F2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c335/8596470/9b80aeb4706a/CroatMedJ_62_0523-F3.jpg

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Familial multifocal micronodular pneumocyte hyperplasia with a novel splicing mutation in TSC1: Three cases in one family.家族性多灶性微结节性肺细胞增生症伴 TSC1 新剪接突变：一家三例。
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