Nephrogenic diabetes insipidus

Nephrogenic diabetes insipidus
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DOI:
10.1016/s0002-9343(98)00301-5
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发表时间:
1998-11-01
影响因子:
5.9
通讯作者:
Bichet, DG
Bichet, DG
中科院分区:
医学2区
文献类型:
--
作者:
Bichet, DG

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In nephrogenic diabetes insipidus, the kidney is unable to concentrate urine despite normal or elevated concentrations of the antidiuretic hormone arginine vasopressin (AVP). In congenital nephrogenic diabetes insipidus (NDI), the obvious clinical manifestations of the disease, that is polyuria and polydipsia, are present at birth and need to be immediately recognized to avoid severe episodes of dehydration. Most (>90%) congenital NDI patients have mutations in the A VPR2 gene, the Xq28 gene coding for the vasopressin V-2 (antidiuretic) receptor. In