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伴有纤维发育不良的假假性甲状旁腺功能减退症

Pseudopseudohypoparathyroidism with fibrous dysplasia.

作者信息

Solomon S S, Kerlan R M, King L E, Jones G M, Hashimoto K

出版信息

Arch Dermatol. 1975 Jan;111(1):90-3.

PMID:1119829
Abstract

Pseudopseudohypoparathyroidism and pseudohypoparathyroidism have been thought to represent variants of the same disease process, Albright hereditary osteodystrophy. A 31-year-old woman with the characteristic features of pseudopseudohypoparathyroidism, such as shortened metacarpals and metatarsals, round facies, and normal serum calcium values, was studied. Underdeveloped metacarpal and metatarsal heads produced an important diagnostic sign, Albright dimpling sign, which dermatologists can use to make the correct diagnosis. The presence of this sign, together with roentgenographic evidence, will usually exclude other diagnostic possibilities. Our patient had a normal response to parathyroid hormone infusion, including increased urinary adenosine 3',5' cyclic monophosphate excretion. Radiological, light microscopic, and electron microscopic studies of the mandible showed fibrous dysplasia, a disease commonly reported to be present with hyperparathyroidism, but, to our knowledge, never before reported in association with any variant of hypoparathyroidism.

摘要

假性假甲状旁腺功能减退症和假甲状旁腺功能减退症被认为是同一疾病过程——奥尔布赖特遗传性骨营养不良的不同变体。对一名31岁具有假性假甲状旁腺功能减退症特征(如掌骨和跖骨缩短、圆脸以及血清钙值正常)的女性进行了研究。发育不全的掌骨头和跖骨头产生了一个重要的诊断体征——奥尔布赖特凹陷征,皮肤科医生可利用该体征做出正确诊断。此体征的存在,再加上X线证据,通常可排除其他诊断可能性。我们的患者对甲状旁腺激素输注反应正常,包括尿中3',5'-环磷酸腺苷排泄增加。对下颌骨进行的放射学、光学显微镜和电子显微镜研究显示为纤维发育异常,这是一种通常报道与甲状旁腺功能亢进症相关的疾病,但据我们所知,此前从未报道过与任何甲状旁腺功能减退症变体相关。

相似文献

1
Pseudopseudohypoparathyroidism with fibrous dysplasia.伴有纤维发育不良的假假性甲状旁腺功能减退症
Arch Dermatol. 1975 Jan;111(1):90-3.
2
[Cutaneous osteoma and Albright's hereditary osteodystrophy].[皮肤骨瘤与奥尔布赖特遗传性骨营养不良]
Ann Dermatol Venereol. 1994;121(5):408-13.
3
Possible relationship of primary hyperparathyroidism and fibrous dysplasia: report of case.原发性甲状旁腺功能亢进与骨纤维异常增殖症的可能关系:病例报告
J Oral Surg. 1977 Jun;35(6):483-90.
4
[On a case of pseudo-pseudohypoparathyroidism with osteitis fibrosa, diabetes mellitus and diabetes insipidus].[关于一例伴有纤维性骨炎、糖尿病和尿崩症的假性假甲状旁腺功能减退症病例]
Minerva Med. 1968 Feb 14;59(13):681-9.
5
[Albright's hereditary osteodystrophy. 3 cases of type II].[奥尔布赖特遗传性骨营养不良症。3例II型]
Ann Pediatr (Paris). 1970 Apr 2;17(4):245-59.
6
Albright hereditary osteodystrophy and del(2) (q37.3) in four unrelated individuals.
Am J Med Genet. 1995 Jul 31;58(1):1-7. doi: 10.1002/ajmg.1320580102.
7
Pseudohypoparathyroidism and idiopathic hypoparathyroidism: relationship between serum calcium and parathyroid hormone levels and urinary cyclic adenosine-3',5'-monophosphate response to parathyroid extract.假性甲状旁腺功能减退症和特发性甲状旁腺功能减退症:血清钙与甲状旁腺激素水平之间的关系以及尿中环磷酸腺苷对甲状旁腺提取物的反应。
J Clin Endocrinol Metab. 1978 Jun;46(6):872-9. doi: 10.1210/jcem-46-6-872.
8
[Albright's hereditary osteodystrophy. 3 new cases with thyrocalcitonin and calcium 45 tests].[奥尔布赖特遗传性骨营养不良症。3例新病例的降钙素和血钙45检测]
Ann Pediatr (Paris). 1968 Apr 2;15(4):1061-73.
9
[Albright's hereditary osteodystrophy and the Ullrich-Turner syndrome].
Arch Gynakol. 1968;206(1):25-33. doi: 10.1007/BF00679710.
10
Bariatric surgery in an obese patient with Albright hereditary osteodystrophy: a case report.肥胖合并奥尔布赖特遗传性骨营养不良患者的减重手术:一例报告
J Med Case Rep. 2013 Apr 24;7:111. doi: 10.1186/1752-1947-7-111.

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