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首页> 外文期刊>Iranian journal of public health. >Clinical Manifestations and Molecular Biology of One Case of Carney Complex: A Case Report
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Clinical Manifestations and Molecular Biology of One Case of Carney Complex: A Case Report

机译：一例卡尼复合体的临床表现和分子生物学：一例报告

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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.
机译：卡尼复合体（CNC）是一种罕见的遗传病。在这里，我们报告一例CNC，并探讨CNC的临床表现和基因突变研究。一名16岁的CNC男性患者于2015年7月入遵义医科大学附属医院。尽管该患者具有库欣综合症的典型体征，但他也表现出库欣综合症的某些罕见体征，例如“雀斑”。状”的分散在脸上和嘴唇周围的色素斑。另外，伴随的严重骨质疏松症导致椎骨变平和相应水平的脊髓受压。影像学检查发现肾上腺结节增生。基于测序，发现了2个PRKAR1A基因的新杂合突变。最终通过病理活检诊断为CNC。随访1年后，患者体重减轻，腰痛减轻，血液生化指标正常和皮质醇水平处于正常范围的下限。

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