Renal transplantation in hypophosphatemia with vitamin D-resistant rickets.
Renal transplantation in hypophosphatemia with vitamin D-resistant rickets.
复制标题
肾移植治疗低磷血症伴维生素 D 抵抗性佝偻病。
DOI：
10.1001/archinte.1974.00320210159025
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发表时间：
1974
影响因子：
--
通讯作者：
A. Diethelm
中科院分区：
文献类型：
--
作者：
J. Morgan;W. L. Hawley;A. Chenoweth;W. Retan;A. Diethelm
家族性低磷血症是一种X连锁显性遗传的高度遗传性疾病。1一些，但不是全部，受影响的个体在生命早期发展佝偻病，对维生素D管理具有高度抵抗性。这种疾病最典型的特征是磷酸盐尿，这是由于肾小管磷酸盐重吸收的甲状旁腺激素（PTH）敏感成分的肾小管缺陷所致。2未经治疗的低磷酸盐血症患者血液中PTH浓度可能正常，但对PTH无反应。3最近的研究表明，受影响的患者肠粘膜对无机磷酸盐的吸收也受损，这表明患者存在全身性代谢缺陷。4一个独特的机会，移植一个妹妹的正常肾脏到一个严重影响的人提供了额外的支持，这种可能性。患者摘要该患者是正常父母的第五个孩子。他的母亲身材矮小，但从未听说过有骨病。他父亲
Familial hypophosphatemia is a hereditary disorder with X-linked dominant inheritance and a high degree of penetrance. 1 Some, but not all, affected individuals early in life develop rickets that is highly resistant to vitamin D administration. The most characteristic feature of the disease is phosphaturia, which results from a tubular defect in the parathyroid hormone (PTH)-sensitive component of tubular phosphate reabsorption. 2 Untreated hypophosphatemic individuals may have normal PTH concentrations in the blood, but are unresponsive to it. 3 The recent demonstration that inorganic phosphate uptake by the intestinal mucosa is also impaired in affected individuals suggests a generalized metabolic defect. 4 A unique opportunity to transplant a sister's normal kidney to a severely affected man has provided additional support for this possibility. Patient Summary This patient was the fifth child of normal parents. His mother was short in stature, but was never known to have bone disease. His father