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假性甲状旁腺功能减退症的演变：一项信息丰富的家系研究。

Evolution of pseudohypoparathyroidism: an informative family study.

作者信息

Barr D G, Stirling H F, Darling J A

机构信息

Royal Hospital for Sick Children, Edinburgh.

出版信息

Arch Dis Child. 1994 Apr;70(4):337-8. doi: 10.1136/adc.70.4.337.

DOI:10.1136/adc.70.4.337
PMID:8185370
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1029790/
Abstract

An adult woman with pseudopseudohypoparathyroidism had a child with normal calcium and parathyroid hormone concentrations and cyclic AMP response to injected parathyroid hormone in infancy. By 2.5 years he had features of pseudohypoparathyroidism with raised parathyroid hormone and 'flat' cyclic AMP response. This is the first documented case of a change in parathyroid hormone responsiveness. The abnormal cyclic AMP response to parathyroid hormone in pseudohypoparathyroidism can evolve during childhood.

摘要

一名患有假性假性甲状旁腺功能减退症的成年女性育有一子女，该子女在婴儿期血钙、甲状旁腺激素浓度及对注射甲状旁腺激素的环磷酸腺苷反应均正常。到2.5岁时，他出现了假性甲状旁腺功能减退症的特征，甲状旁腺激素升高且环磷酸腺苷反应“平坦”。这是有记录的首例甲状旁腺激素反应性改变的病例。假性甲状旁腺功能减退症中对甲状旁腺激素异常的环磷酸腺苷反应可在儿童期演变。

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1
Evolution of pseudohypoparathyroidism: an informative family study.假性甲状旁腺功能减退症的演变：一项信息丰富的家系研究。
Arch Dis Child. 1994 Apr;70(4):337-8. doi: 10.1136/adc.70.4.337.
2
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3
[Hypoparathyroidism, pseudohypoparathyroidism and pseudo-pseudohypoparathyroidism. Stimulation with human parathyroid hormone].[甲状旁腺功能减退症、假性甲状旁腺功能减退症和假假性甲状旁腺功能减退症。用人甲状旁腺激素进行刺激]
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Arch Intern Med. 1979 Feb;139(2):204-7. doi: 10.1001/archinte.139.2.204.
5
Activity of the stimulatory guanine nucleotide-binding protein is reduced in erythrocytes from patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism: biochemical, endocrine, and genetic analysis of Albright's hereditary osteodystrophy in six kindreds.假性甲状旁腺功能减退症和假假性甲状旁腺功能减退症患者红细胞中刺激性鸟嘌呤核苷酸结合蛋白的活性降低：六个家系中奥尔布赖特遗传性骨营养不良的生化、内分泌和遗传学分析
J Clin Endocrinol Metab. 1986 Mar;62(3):497-502. doi: 10.1210/jcem-62-3-497.
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Pseudohypoparathyroidism: a difficult diagnosis in early childhood.
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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.
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Pseudohypoparathyroidism. Disappearance of the resistance to parathyroid extract during treatment with vitamin D.
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Effective long-term treatment of pseudohypoparathyroidism with oral 1alpha-hydroxy- and 1,25-dihydroxy-cholecalciferol.口服1α-羟基胆钙化醇和1,25-二羟基胆钙化醇对假性甲状旁腺功能减退症的长期有效治疗
J Pediatr. 1976 Aug;89(2):266-8. doi: 10.1016/s0022-3476(76)80464-7.
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Pseudohypoparathyroidism: defective excretion of 3',5'-AMP in response to parathyroid hormone.假性甲状旁腺功能减退症：对甲状旁腺激素反应时3',5'-AMP排泄缺陷。
J Clin Invest. 1969 Oct;48(10):1832-44. doi: 10.1172/JCI106149.

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Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement.假性甲状旁腺功能减退症及相关疾病的诊断与管理：第一份国际共识声明。
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本文引用的文献

1
Endocrine and molecular biological studies in a German family with Albright hereditary osteodystrophy.
Eur J Pediatr. 1993 Mar;152(3):185-9. doi: 10.1007/BF01956140.
2
Resistance to multiple hormones in patients with pseudohypoparathyroidism. Association with deficient activity of guanine nucleotide regulatory protein.假性甲状旁腺功能减退患者对多种激素的抵抗。与鸟嘌呤核苷酸调节蛋白活性不足相关。
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Albright's hereditary osteodystrophy: a review.奥尔布赖特遗传性骨营养不良症综述
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Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy.奥尔布赖特遗传性骨营养不良中编码腺苷酸环化酶刺激性G蛋白的基因发生突变。
N Engl J Med. 1990 May 17;322(20):1412-9. doi: 10.1056/NEJM199005173222002.
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Plasma cyclic AMP response to intravenous parathyroid hormone in pseudohypoparathyroidism.假性甲状旁腺功能减退症中血浆环磷酸腺苷对静脉注射甲状旁腺激素的反应。
Acta Paediatr Scand. 1991 Mar;80(3):333-8. doi: 10.1111/j.1651-2227.1991.tb11858.x.
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Normocalcemic pseudohypoparathyroidism. Association with normal vitamin D3 metabolism.
Am J Med. 1979 Mar;66(3):503-8. doi: 10.1016/0002-9343(79)91082-9.