Figure 137

Congenital nephrogenic diabetes insipidus, X-linked-recessive form. This is a rare disease of male patients who do not concentrate their urine after administration of antidiuretic hormone. The pedigrees of affected families have been linked to a group of Ulster Scots who emigrated to Halifax, Nova Scotia in 1761 aboard the ship called "Hopewell." According to the Hopewell hypothesis, most North American patients with this disease are descendants of a common ancestor with a single gene defect. Recent studies, however, disproved this hypothesis [28]. The gene defect has now been traced to 87 different mutations in the gene for the vaso-pressin receptor (AVP-R2) in 106 presumably unrelated families [29]. (From Bichet, et al. [29]; with permission.)

Congenital nephrogenic diabetes insipidus (NDI), autosomal-recessive form. In the autosomal recessive form of NDI, mutations have been found in the gene for the antiiuretic hormone (ADH)-sensitive water channel, AQP-2. This form of NDI is exceedingly rare as compared with the X-linked form of NDI [30]. Thus far, a total of 15 AQP-2 mutations have been described in total of 13 families [31]. The acquired form of NDI occurs in various kidney diseases and in association with various drugs, such as lithium and amphotericin B. (From Canfield et al. [31]; with permission.)

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