原发性色素性结节性肾上腺皮质病伴罕见甲状旁腺腺瘤一例
摘要
<正>原发性色素性结节性肾上腺皮质病(primary pigmented nodular adrenocortical disease,PPNAD)是一种以非促肾上腺皮质激素(adrenocorticotropic hormone,ACTH)依赖性库欣综合征为主要临床表现的罕见疾病,多数为常染色体显性遗传,常可伴发心脏或皮肤黏液瘤、神经鞘瘤、睾丸肿瘤和甲状腺肿瘤等,但迄今并无文献报道其与甲状旁腺腺瘤同时伴发的情况,本院收治1例,报道如下。1病例资料
引文
[1]Carney JA,Gordon H,PC Carpenter,et al.The complex of myxomas,spotty pigmentation,and endocrine overactivity[J].Medicine,1985,64(4):270-283.
[2]Stratakis CA,Kirschner LS,JA Carney.Clinical and molecular features of the Carney complex:diagnostic criteria and recommendations for patient evaluation[J].J Clin Endocrinol Metab,2001,86(9):4041-4046.
[3]Chen S,Li R,Lu L,et al.Efficacy of dexamethasone suppression test during the diagnosis of primary pigmented nodular adrenocortical disease in Chinese adrenocorticotropic hormone-independent Cushing syndrome[J].Endocrine,2018,59(1):183-190.
[4]Bram Z,Louiset E,Ragazzon B,et al.PKA regulatory subunit 1A inactivating mutation induces serotonin signaling in primary pigmented nodular adrenal disease[J].JCI Insight,2016,1(15):e87958.
[5]Casey M,Vaughan CJ,He J,et al.Mutations in the protein kinase A R1alpha regulatory subunit cause familial cardiac myxomas and Carney complex[J].J Clin Invest,2000,106(5):R31-38.
[6]Horvath A,Boikos S,Giatzakis C,et al.A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4(PDE11A)in individuals with adrenocortical hyperplasia[J].Nat Genet,2006,38(7):794-800.
[7]Horvath A,Giatzakis C,Robinson-White A,et al.Adrenal hyperplasia and adenomas are associated with inhibition of phosphodiesterase 11A in carriers of PDE11A sequence variants that are frequent in the population[J].Cancer Res,2006,66(24):11571-11575.
[8]Lowe KM,Young WF,Lyssikatos C,et al.Cushing syndrome in carney complex:clinical,pathologic,and molecular genetic findings in the 17 affected Mayo Clinic patients[J].Am J Surg Pathol,2017,41(2):171-181.
[9]Anselmo J,Medeiros S,Carneiro V,et al.A large family with Carney complex caused by the S147G PRKAR1Amutation shows a unique spectrum of disease including adrenocortical cancer[J].J Clin Endocrinol Metab,2012,97(2):351-359.
[2]Stratakis CA,Kirschner LS,JA Carney.Clinical and molecular features of the Carney complex:diagnostic criteria and recommendations for patient evaluation[J].J Clin Endocrinol Metab,2001,86(9):4041-4046.
[3]Chen S,Li R,Lu L,et al.Efficacy of dexamethasone suppression test during the diagnosis of primary pigmented nodular adrenocortical disease in Chinese adrenocorticotropic hormone-independent Cushing syndrome[J].Endocrine,2018,59(1):183-190.
[4]Bram Z,Louiset E,Ragazzon B,et al.PKA regulatory subunit 1A inactivating mutation induces serotonin signaling in primary pigmented nodular adrenal disease[J].JCI Insight,2016,1(15):e87958.
[5]Casey M,Vaughan CJ,He J,et al.Mutations in the protein kinase A R1alpha regulatory subunit cause familial cardiac myxomas and Carney complex[J].J Clin Invest,2000,106(5):R31-38.
[6]Horvath A,Boikos S,Giatzakis C,et al.A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4(PDE11A)in individuals with adrenocortical hyperplasia[J].Nat Genet,2006,38(7):794-800.
[7]Horvath A,Giatzakis C,Robinson-White A,et al.Adrenal hyperplasia and adenomas are associated with inhibition of phosphodiesterase 11A in carriers of PDE11A sequence variants that are frequent in the population[J].Cancer Res,2006,66(24):11571-11575.
[8]Lowe KM,Young WF,Lyssikatos C,et al.Cushing syndrome in carney complex:clinical,pathologic,and molecular genetic findings in the 17 affected Mayo Clinic patients[J].Am J Surg Pathol,2017,41(2):171-181.
[9]Anselmo J,Medeiros S,Carneiro V,et al.A large family with Carney complex caused by the S147G PRKAR1Amutation shows a unique spectrum of disease including adrenocortical cancer[J].J Clin Endocrinol Metab,2012,97(2):351-359.