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X连锁低磷血症中磷酸盐转运的甲状旁腺激素敏感成分缺失。

Loss of a parathyroid hormone-sensitive component of phosphate transport in X-linked hypophosphatemia.

作者信息

Glorieux F, Scriver C R

出版信息

Science. 1972 Mar 3;175(4025):997-1000. doi: 10.1126/science.175.4025.997.

DOI:10.1126/science.175.4025.997
PMID:4333173
Abstract

Mutant hemizygotes with X-linked hypophosphatemia lack a parathyroid hormone-sensitive component of inorganic phosphate transport in kidney; female heterozygotes retain a variable proportion of this type of transport. The residual mechanism for reabsorption in affected males allows inorganic phosphate efflux from the kidney to urine so that net "secretion" is sometimes observed; the latter is directly proportional to the serum concentration of inorganic phosphate. Calcium acts on the kidney tubule to enhance net reabsorption by this component of inorganic phosphate transport.

摘要

患有X连锁低磷血症的突变半合子缺乏肾脏中无机磷酸盐转运的甲状旁腺激素敏感成分；女性杂合子保留了这种转运类型的可变比例。受影响男性中残余的重吸收机制使无机磷酸盐从肾脏流向尿液，因此有时会观察到净“分泌”；后者与无机磷酸盐的血清浓度成正比。钙作用于肾小管，通过这种无机磷酸盐转运成分增强净重吸收。

相似文献

1
Loss of a parathyroid hormone-sensitive component of phosphate transport in X-linked hypophosphatemia.X连锁低磷血症中磷酸盐转运的甲状旁腺激素敏感成分缺失。
Science. 1972 Mar 3;175(4025):997-1000. doi: 10.1126/science.175.4025.997.
2
Exaggerated phosphaturic response to circulating parathyroid hormone in patients with familial X-linked hypophosphatemic rickets.家族性X连锁低磷性佝偻病患者对循环甲状旁腺激素的磷尿反应过度。
J Clin Invest. 1976 Jul;58(1):152-63. doi: 10.1172/JCI108444.
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Transepithelial transport of phosphate anion in kidney. Potential mechanisms for hypophosphatemia.肾脏中磷酸根阴离子的跨上皮转运。低磷血症的潜在机制。
Adv Exp Med Biol. 1977;81:55-70. doi: 10.1007/978-1-4613-4217-5_5.
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[Tubular phosphate transport in vitamin D resistant rickets].[维生素D抵抗性佝偻病中的肾小管磷转运]
Monatsschr Kinderheilkd (1902). 1974 Jul;122(7):583-5.
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Serum parathyroid hormone in X-linked hypophosphatemia.X连锁低磷血症中的血清甲状旁腺激素
Science. 1971 Aug 27;173(3999):845-7. doi: 10.1126/science.173.3999.845.
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Phosphate transport in the kidney.肾脏中的磷酸盐转运
Rev Physiol Biochem Pharmacol. 1984;100:161-214. doi: 10.1007/3540133275_4.
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Abnormal tubular adaptation to dietary Pi restriction in X-linked hypophosphatemic mice.
Am J Physiol. 1982 Apr;242(4):F353-9. doi: 10.1152/ajprenal.1982.242.4.F353.
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Letter: Parathyroid hormone secretion in X-linked hypophosphatemia.信函：X连锁低磷血症中的甲状旁腺激素分泌
N Engl J Med. 1974 Jun 6;290(23):1329-30. doi: 10.1056/nejm197406062902328.
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Occurrence of hyperparathyroidism in children with X-linked hypophosphatemia under treatment with vitamin D and phsophate.
Adv Exp Med Biol. 1977;81:345-51. doi: 10.1007/978-1-4613-4217-5_34.
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[Tubular and intestinal phosphate transport in vitamin D-resistant (hypophosphatemic) rickets (author's transl)].维生素D抵抗性（低磷血症性）佝偻病中的肾小管和肠道磷转运（作者译）
Padiatr Padol. 1977;12(2):152-7.

引用本文的文献

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Renal Phosphate Handling: Independent Effects of Circulating FGF23, PTH, and Calcium.肾脏对磷酸盐的处理：循环中的成纤维细胞生长因子23（FGF23）、甲状旁腺激素（PTH）和钙的独立作用。
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2
Deformity correction in children with hereditary hypophosphatemic rickets.遗传性低磷性佝偻病患儿的畸形矫正
Clin Orthop Relat Res. 2008 Dec;466(12):3078-85. doi: 10.1007/s11999-008-0547-2. Epub 2008 Oct 8.
3
Autosomal hypophosphataemic bone disease responds to 1,25-(OH)2D3.常染色体性低磷性骨病对1,25 -（OH）2D3有反应。
Arch Dis Child. 1981 Mar;56(3):203-7. doi: 10.1136/adc.56.3.203.
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Effects of phosphate and 1,25(OH)2D3 on in vitro bone collagen synthesis in the hypophosphatemic mouse.磷酸盐和1,25(OH)₂D₃对低磷血症小鼠体外骨胶原合成的影响。
Calcif Tissue Int. 1983 May;35(3):383-91. doi: 10.1007/BF02405063.
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Impaired phosphorus conservation and 1,25 dihydroxyvitamin D generation during phosphorus deprivation in familial hypophosphatemic rickets.家族性低磷血症性佝偻病患者在磷缺乏期间磷保留和1,25-二羟维生素D生成受损。
J Clin Invest. 1983 Jun;71(6):1562-9. doi: 10.1172/jci110912.
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Serum 1,25-dihydroxyvitamin D concentration in hypophosphatemic vitamin D-resistant rickets.低磷性维生素D抵抗性佝偻病患者的血清1,25-二羟维生素D浓度
Calcif Tissue Int. 1981;33(2):173-5. doi: 10.1007/BF02409431.
7
The acute effect of 25-hydroxycholecalciferol on renal handling of phosphorus. Evidence for a parathyroid hormone-dependent mechanism.25-羟基胆钙化醇对肾脏磷处理的急性作用。甲状旁腺激素依赖性机制的证据。
J Clin Invest. 1974 Mar;53(3):913-21. doi: 10.1172/JCI107632.
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Effect of volume expansion on sodium excretion in the presence and absence of increased delivery from superficial proximal tubules.在存在和不存在来自浅表近端小管的输送增加的情况下，容量扩张对钠排泄的影响。
J Clin Invest. 1973 Jul;52(7):1642-6. doi: 10.1172/JCI107344.
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J Clin Invest. 1974 Dec;54(6):1287-94. doi: 10.1172/JCI107874.
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Modulation of phosphate absorption by calcium in the rabbit proximal convoluted tubule.钙对兔近端曲管磷酸盐吸收的调节作用
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