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Iranian Journal of Public Health، جلد ۴۷، شماره ۴، صفحات ۵۹۷-۶۰۲
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عنوان انگلیسی Clinical Manifestations and Molecular Biology of One Case of Carney Complex: A Case Report
چکیده انگلیسی مقاله Abstract Carney complex (CNC) is a rare genetic disease. Here, we report a case of CNC and explore clinical manifestations and gene mutation studies of CNC. A male patient with CNC at the age of 16 yr was admitted to Affiliated Hospital of Zunyi Medical University in July, 2015. Although the patient had typical signs of Cushing's syndrome, he also presented with certain rare signs of Cushing's syndrome, such as "freckle-like" scattered spots of pigmentation on the face and around the lips. In addition, concomitant severe osteoporosis led to flattened vertebrae and the compression of corresponding levels of the spinal cord. Radiographic findings revealed adrenal nodular hyperplasia. Based on sequencing, 2 novel heterozygous mutations of the PRKAR1A gene were found. CNC was eventually diagnosed via pathologic biopsy. After 1 year of follow-up, the patient exhibited weight loss, relief of low back pain, normal blood biochemical indicators and cortisol levels at the lower limit of the normal range.
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نویسندگان مقاله | Mengxue YANG
Dept. of Pediatrics, Qiandongnan People’s Hospital, Kaili, Guizhou, China


| Biao LONG
School of Public Health, Zunyi Medical University, Zunyi, China


| Jie XU
School of Public Health, Zunyi Medical University, Zunyi, China


| Jie YU
Dept. of Endocrinology, Affiliated Hospital of Zunyi Medical University, Zunyi, China


| Xianwen LI
Dept. of Endocrinology, Affiliated Hospital of Zunyi Medical University, Zunyi, China


| Fanhao YE
Dept. of Endocrinology, Affiliated Hospital of Zunyi Medical University, Zunyi, China


| Bo YANG
Dept. of Endocrinology, Affiliated Hospital of Zunyi Medical University, Zunyi, China


| Yulan LIAO
Dept. of Endocrinology, Affiliated Hospital of Zunyi Medical University, Zunyi, China


| Sicheng LI
Dept. of Endocrinology, Affiliated Hospital of Zunyi Medical University, Zunyi, China


| Xue ZHOU


| Xue ZHOU


نشانی اینترنتی http://ijph.tums.ac.ir/index.php/ijph/article/view/13163
فایل مقاله اشکال در دسترسی به فایل - ./files/site1/rds_journals/86/article-86-582181.pdf
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زبان مقاله منتشر شده en
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نوع مقاله منتشر شده Case Report(s)
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