Advances in chronic kidney disease
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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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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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Hypertension occurs commonly in children with chronic kidney disease (CKD) and undoubtedly contributes to the progression of disease. This review summarizes the role of hypertension in the progression of CKD in children and highlights the central role played by the renin-angiotensin system in this relentless process. Strategies for reno-protection are discussed, and treatment recommendations are made for control of hypertension in this patient population.
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Adv Chronic Kidney Dis · Apr 2005
ReviewEffects of statin therapy on the progression of chronic kidney disease.
Statins are lipid-lowering agents that specifically, competitively, and reversibly inhibit 3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) reductase, the enzyme that catalyzes the conversion of HMG-CoA to mevalonic acid, the rate-limiting step in the formation of cholesterol. A large body of evidence from numerous, well-controlled, randomized trials demonstrates that statins significantly reduce fatal and nonfatal cardiovascular events in the general population. ⋯ More recently, subanalyses of large clinical trials suggest that statins may also prove beneficial in ameliorating the progression of kidney disease through their cholesterol-dependent and/or cholesterol-independent (pleiotropic) effects. This review focuses on the role of statin therapy in the progression of chronic kidney disease, the published trials that study the effect of antilipidemic agents on nephropathy, and the emerging pleiotropic effects of statins on the kidneys.
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Adv Chronic Kidney Dis · Apr 2004
ReviewMeasurement and treatment of elevated blood pressure in the pediatric patient with chronic kidney disease.
Hypertension, as in adults, is a frequent complication found in children with chronic kidney disease (CKD). Indeed, hypertension has now become one of the most prevalent chronic diseases of childhood. The most recent data available (2003) indicate that at least 38% of children with CKD in the United States are receiving antihypertensive therapy. ⋯ A physician treating a hypertensive child with CKD faces multiple challenges. They include selecting the convenience of available automated devices and the ABPM versus traditional auscultatory techniques upon which all normative standards have been based. Current research initiatives propose to develop pharmacokinetic and pharmacodynamics properties of antihypertensive medications and to study the effect of early intervention on end-organ damage.