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McCune Albright syndrome and hypophosphatemic rickets.

作者信息

Dutta S, Bagga A

机构信息

Department of Pediatrics, PGIMER, Chandigarh.

出版信息

Indian J Pediatr. 1999 Jul-Aug;66(4):628-31. doi: 10.1007/BF02727183.

DOI:10.1007/BF02727183
PMID:10798120
Abstract

A 4 year-old girl had coxa vara, tibial bowing and hyperpigmented macules. The x-ray showed polyostotic fibrous dysplasia and evidence of rickets. Biochemical investigations confirmed hyperphosphaturic hypophosphatemic rickets. The literature has been reviewed.

摘要

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本文引用的文献

1
Clinical implications of genetic defects in G proteins. The molecular basis of McCune-Albright syndrome and Albright hereditary osteodystrophy.G蛋白基因缺陷的临床意义。麦库恩-奥尔布赖特综合征和奥尔布赖特遗传性骨营养不良的分子基础。
Medicine (Baltimore). 1996 Jul;75(4):171-84. doi: 10.1097/00005792-199607000-00001.
2
Inhibitors of renal epithelial phosphate transport in tumor-induced osteomalacia and uremia.
Proc Assoc Am Physicians. 1995 Oct;107(3):296-305.
3
Urinary cyclic adenosine 3',5'-monophosphate response in McCune-Albright syndrome: clinical evidence for altered renal adenylate cyclase activity.McCune-Albright综合征患者尿液中环磷酸腺苷的反应：肾脏腺苷酸环化酶活性改变的临床证据。
J Clin Endocrinol Metab. 1995 Dec;80(12):3576-81. doi: 10.1210/jcem.80.12.8530601.
4
Severe endocrine and nonendocrine manifestations of the McCune-Albright syndrome associated with activating mutations of stimulatory G protein GS.与刺激性G蛋白GS激活突变相关的McCune-Albright综合征的严重内分泌和非内分泌表现。
J Pediatr. 1993 Oct;123(4):509-18. doi: 10.1016/s0022-3476(05)80943-6.
5
Brief report: inhibition of renal phosphate transport by a tumor product in a patient with oncogenic osteomalacia.简短报告：肿瘤产物对一名肿瘤性骨软化症患者肾磷酸盐转运的抑制作用
N Engl J Med. 1994 Jun 9;330(23):1645-9. doi: 10.1056/NEJM199406093302304.
6
Extensive linear epidermal nevus associated with hemangiomas of bones and vitamin-D-resistant rickets.广泛线性表皮痣伴骨血管瘤和维生素D抵抗性佝偻病。
Dermatology. 1994;189(3):278-82. doi: 10.1159/000246861.
7
Oncogenic osteomalacia: a clinicopathologic study of 17 bone lesions.致癌性骨软化症：17例骨病变的临床病理研究
J Korean Med Sci. 1994 Aug;9(4):289-98. doi: 10.3346/jkms.1994.9.4.289.
8
Albright's syndrome associated with a soft-tissue myxoma and hypophosphataemic osteomalacia. Report of a case and review of the literature.
J Bone Joint Surg Br. 1983 Nov;65(5):621-6. doi: 10.1302/0301-620X.65B5.6315740.
9
The McCune-Albright syndrome: a lethal gene surviving by mosaicism.麦库恩-奥尔布赖特综合征：一种通过嵌合体存活的致死基因。
Clin Genet. 1986 Apr;29(4):321-4. doi: 10.1111/j.1399-0004.1986.tb01261.x.
10
Parabiosis suggests a humoral factor is involved in X-linked hypophosphatemia in mice.联体生活实验表明，一种体液因子与小鼠的X连锁低磷血症有关。
J Bone Miner Res. 1989 Aug;4(4):493-500. doi: 10.1002/jbmr.5650040407.