کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
5529364 1401694 2017 6 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Case reportTuberous sclerosis complex and polycystic kidney disease contiguous gene syndrome with Moyamoya disease
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی تحقیقات سرطان
پیش نمایش صفحه اول مقاله
Case reportTuberous sclerosis complex and polycystic kidney disease contiguous gene syndrome with Moyamoya disease
چکیده انگلیسی

Tuberous sclerosis complex (TSC) and autosomal dominant polycystic kidney disease (ADPKD) are two diseases sharing close genetic loci on chromosome 16. Due to contiguous gene syndrome, also known as contiguous gene deletion syndrome, the proximity of TSC2 and PKD1 genes increases the risk of co-deletion resulting in a shared clinical presentation. Furthermore, Moyamoya disease (MMD) is a rare vaso-occlusive disease in the circle of Willis. We present the first case of TSC2/PKD1 contiguous gene syndrome in a patient with MMD along with detailed histopathologic, radiologic, and cytogenetic analyses. We also highlight the clinical presentation and surgical complications in this case.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Pathology - Research and Practice - Volume 213, Issue 4, April 2017, Pages 410-415
نویسندگان
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