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典型McCune-Albright综合征合并先天性心脏病一例

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摘要 McCune-Albright综合征（MAS）是一种很少见的疾病,主要表现为一个或多个内分泌腺体功能障碍、多发性骨纤维发育不良（FD）和皮肤牛奶咖啡样色素斑（CALMs）三联征,是由于GNAS1基因突变导致[1].以下报道1例典型而复杂的MAS患者,以提高临床医生对该病的认识,有助于本病早期诊治.
作者 郑瑞芝 马跃华 赵志刚 汪艳芳 马建新 高文彬 张俐
机构地区 河南省人民医院内分泌科
出处 《中华内科杂志》 CAS CSCD 北大核心 2015年第4期336-338,共3页 Chinese Journal of Internal Medicine
基金 河南省卫生厅医学学术技术带头人出国培训计划项目（201201086） 河南省卫生科技创新型人才工程中青年科技创新人才基金资助项目（第4014号） 河南省卫生厅科技攻关计划项目（201303123）
关键词 MCCUNE-ALBRIGHT综合征 先天性心脏病 骨纤维发育不良 内分泌腺体 功能障碍 主要表现 基因突变 临床医生
分类号 R725 [医药卫生—儿科]
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参考文献14

  • 1Vortmeyer AO, Glasker S, Mehta GU, et al. Somatic GNAS mutation causes widespread and diffuse pituitary disease in acromegalic patients with McCune-Albright syndrome [ J ]. J Clin Endocrinol Metab, 2012, 97 (7) :2404-2413.
  • 2Boussa'id K, Meduri G, Maiza JC, et al. Virilizing sclerosing- stromal tumor of the ovary in a young woman with McCune Albright syndrome : clinical, pathological, and immunohistochemical studies[J]. J Clin Endocrinol Metab, 2013, 98(2) :E314-E320.
  • 3Vasilev V, Daly AF, Thiry A, et al. McCune-Albright syndrome: a detailed pathological and genetic analysis of disease effects in an adult patient [ J ]. J Clin Endocrinol Metab, 2014, 99 ( 10 ) : E2029-E2038.
  • 4郑瑞芝,赵志刚,汪艳芳,袁慧娟,王遂军,苏永,张会峰,虎子颍,马跃华,田睿,袁倩,史晓阳.假性甲状旁腺功能减退症Ia型遗传学研究——附一家系报告[J].中华内分泌代谢杂志,2012,28(8):647-649. 被引量：9
  • 5Noh JH, Kong DS, Seol H J, et al. Endoscopic Decompression for Optic Neuropathy in McCune-Albright Syndrome [ J ]. J Korean Neurosurg Soc, 2014, 56 ( 3 ) : 281-283.
  • 6Kaufman FR, Costin G, Reid BS. Autonomous ovarian hyperfunction followed by gonadotrophin-dependent puberty in McCune-Albright syndrome [ J ]. Clin Endocrinol (Oxf) , 1986,24(3):239-242.
  • 7Boyce AM, Glover M, Kelly MH, et al. Optic neuropathy in McCune-Albright syndrome: effects of early diagnosis and treatment of growth hormone excess[ J]. J Clin Endocrinol Metab, 2013, 98 ( 1 ) : E126-E134.
  • 8Owlia F, Karbassi MH. Craniofacial polyostotic fibrous dysplasia: A rare case[J]. Dent Res J (Isfahan), 2014, 11(4) :518-521.
  • 9John AM, Behera KK, Mathai T, et al. Mazabraud syndrome [ J ]. Indian J Endocrinol Metab, 2013, 17 (4) :740-742.
  • 10Alves C, Silva SF. Partial benefit of anastrozole in the long-term treatment of precocious puberty in McCune-Albright syndrome [ J]. J Pediatr Endocrinol Metab, 2012, 25 (3-4) :323-325.

二级参考文献16

  • 1Lubell T, Garzon M, Anyane-Yeboa K, et al. A novel mutation causing pseudohypoparathyroidism 1A with congenital hypothyroidism and osteoma cutis. J Clin Res Pediatr Endocrinol, 2009,1:244-247.
  • 2Sarathi V, Patil A, Wade R, et al. Intraarticular heterotopic ossification as the initial manifestation in a child with pseudohypoparathyroidism 1 a. Indian J Pediatr, 2011,78:745-748.
  • 3Winter J, Hiort O, Hermanns P, et al. A new heterozygous mutation (D196N) in the Gs alpha gene as a cause for pseudohypoparathyroidism type IA in a boy who had gallstones. J Pediatr Endocrinol Metab, 2011, 24:297-301.
  • 4Zazo C, Thiele S, Martin C, et al. GseL activity is reduced in erythrocyte membranes of patients with psedohypoparathyroidism due to epigenetic alterations at the GNAS locus. J Bone Miner Res, 2011,26: 1864- 1870.
  • 5Kelsey G. Imprinting on chromosome 20 : tissue-specific imprinting and imprinting mutations in the GNAS locus. Am J Med Genet C Semin Med Genet, 2010,154C :377-386.
  • 6Lebrun M, Richard N, Abegnil~ G, et al. Progressive osseous heteroplasia: a model for the imprinting effects of GNAS inactivating mutations in humans. J Clin Endoerinol Metab, 2010,95:3028-3038.
  • 7Mantovani G, Lania AG, Spada A, et al. GNAS impriming and pituitary tumors. Mol Cell Endocrinol, 2010,326 : 15-18.
  • 8Frey UH, Fritz A, Rotterdam S, et al. GNAS1 T393C polymorphism and disease progression in patients with malignant melanoma. Eur J Med Res, 2010,15:422427.
  • 9Jin HY, Lee BH, Choi JH, et al. Clinical characterization and identification of two novel mutations of the GNAS gene in patients with pseudohypoparathyroidism and Endocrinol ( Oxf), 2011,75:207-213.
  • 10Klagge A, Jessnitzer B, Pfaeffle R, et al. A novel GNAS1 mutation in a German family with Albright' s hereditary osteodystrophy. Exp Clin Endocrinol Diabetes, 2010,118:586-590.

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中华内科杂志
2015年 第4期

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