期刊论文

Clinical and molecular research in a case of familial Carney complex

Gu, Y.Y.

中文

中华内科杂志

Chinese Journal of Internal Medicine

0578-1426

2004

43

10

764-768

10.3760/j.issn:0578-1426.2004.10.015

本课题为上海市教委重点学科建设基金资助

本校为其他机构

目的对原发性色素性结节样肾上腺病(primary pigmented nodular adernal disease,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 3700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...

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 t...