摘要
目的 对原发性色素性结节样肾上腺病 (primarypigmentednodularadernaldisease,PPNAD)所致的库欣综合征患者进行家系调查及分子生物学研究。方法 患者入院后例行病史询问及各项相关检查。采集患者及其家系成员共 8份全血DNA样本。对PRKAR1A基因各外显子PCR扩增 ,ABI 370 0测序。手术切除患者右侧肾上腺 ,部分液氮保存以备抽提RNA/DNA ,部分送病理。结果 患者临床表现为不典型库欣综合征 ,其父有心脏黏液瘤病史。患者地塞米松抑制试验结果显示皮质醇不受抑制 ,影像学检查发现肾上腺结节样增生。手术切除肾上腺组织呈现色素结节样病变 ,结合病理所见为PPNAD。测序发现患者及其父亲的PRKAR1A基因有一个新的杂合突变———S14 7N。结论 先证者及其父因分别患有PPNAD及心房黏液瘤并共同携带PRKAR1A的基因突变 ,最终共同确诊为家族性Carney综合征。
Objective A case of primary p igmented nodular adrenal disease (PPNAD) was first diagnosed in Ruijin Hospital, Shanghai, China and molecular genetic research was then carried on the proband and his family members. Methods History and laboratory t ests were routinely taken. Liddle′s test, adrenal CT and pituitary magnetic r esonance imaging were also carried out. Complete family history was obtained an d eight of the family members donated their blood for DNA extraction. Polymeras e chain reaction was done on all the exons of PRKAR1A gene and the product of th e reaction was sequenced with ABI 3700. The right adrenal of the patient was th en resected, part of the tissue was preserved in liquid nitrogen for DNA/RNA ext raction and the remaining sent to Department of Pathology. Results The patient presented an atypical appearance of Cushing′s syndrome . His father had a typical history of caridac myoma. Cortisone level could not be refrained in Liddle′s test for the patient. Imaging examination presented a nodular adrenal and a full pituitary. A novel mutation of PRKAR1A——S147N wa s found in both the patient′s and his father′s gene. Conclusions This is the first patient diagnosed as PPNAD based on his clinical ma nifestations, laboratory tests and imaging and pathological examinations. Accor ding to the history of his father and the results of molecular genetic analysis, the diagnosis of Carney complex can be established on this patient and his fat her. It is also the first time that this kind of point mutation was found in Chinese people.
出处
《中华内科杂志》
CAS
CSCD
北大核心
2004年第10期764-768,共5页
Chinese Journal of Internal Medicine
基金
上海市教委重点学科建设基金资助
