Advances in chronic kidney disease
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Nephrogenic diabetes insipidus (NDI), which can be inherited or acquired, is characterized by an inability to concentrate urine despite normal or elevated plasma concentrations of the antidiuretic hormone arginine vasopressin (AVP). Polyuria, with hyposthenuria, and polydipsia are the cardinal clinical manifestations of the disease. About 90% of patients with congenital NDI are males with X-linked recessive NDI (OMIM 304800) who have mutations in the arginine-vasopressin receptor 2 (AVPR2) gene that codes for the vasopressin V2 receptor. ⋯ Most missense AVPR2 mutations lead to receptors that are trapped intracellularly; a few mutant receptors reach the cell surface but are unable to bind AVP or to properly trigger an intracellular cyclic adenosine monophosphate signal. Similarly, most AQP2 mutant proteins are also misrouted. Prior knowledge of AVPR2 or AQP2 mutations in NDI families and perinatal mutation testing is of direct clinical value because early diagnosis and treatment can avert the physical and mental retardation associated with repeated episodes of dehydration.
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Adv Chronic Kidney Dis · Apr 2006
ReviewPolicy implications of genetic testing: not just for geneticists anymore.
Genetic testing is expanding rapidly to become part of mainstream medicine. While genetic tests bring with them the promise of improved diagnosis and treatment for patients, they also raise several policy challenges. These challenges include the lack of a coherent oversight system to ensure the quality of tests and testing laboratories, the rise of direct-to-consumer genetic testing, the dearth of professional guidelines to assist the transition of genetic tests from research to medical practice, and the absence of federal legislation to protect the privacy of genetic information and prevent genetic discrimination.
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Adv Chronic Kidney Dis · Apr 2006
Historical ArticleTheUniform Anatomical Gift Act and organ donation in the United States.
The Uniform Anatomical Gift Act (UAGA) and its periodic revisions provide a template for the creation and amendment of legislation to adjust public policy and align it with developments in medical practice. It is also a model for statutory response to societal change as well as changes in regulatory and judicial precedents. Conversely, the history of the UAGA shows the limits of legislation to achieve certain social goals.