Abstract:
PURPOSE OF REVIEW:The purpose of this review is to emphasize that single gene disorders are an important and sometimes unrecognized cause of progressive chronic kidney disease. We provide an overview of the benefits of making a genetic diagnosis, the currently available genetic testing methods and examples of diseases illustrating the impact of a genetic diagnosis. RECENT FINDINGS:Although there are now a number of monogenic renal diseases, only a few, such as autosomal dominant polycystic kidney disease (ADPKD), are generally diagnosable without genetic testing. Complicating clinical diagnosis is that many diseases that classically have characteristic renal or extrarenal findings, often present with an incomplete or overlapping phenotype that requires additional testing to be uncovered. Advances in sequencing technology and bioinformatic processing now give us the ability to screen the entire human genome or exome or an organ-limited subset of genes quickly and inexpensively permitting the unbiased interrogation of hundreds of genes, thus removing the need for precision in clinical diagnosis prior to testing. SUMMARY:We provide an overview of the principal phenotypes seen in chronic kidney disease with a focus on the cystic diseases and ciliopathies, the glomerular diseases, disorders of renal development and the tubulointerstitial diseases. In each of these phenotypes, we provide a listing of some of the important genes that have been identified to date, a brief discussion of the clinical diagnosis, the role of genetic testing and the differentiation of distinct genetic disorders from acquired and genetic phenocopies.
journal_name
Curr Opin Nephrol Hypertensjournal_title
Current opinion in nephrology and hypertensionauthors
Armstrong ME,Thomas CPdoi
10.1097/MNH.0000000000000486subject
Has Abstractpub_date
2019-03-01 00:00:00pages
183-194issue
2eissn
1062-4821issn
1473-6543journal_volume
28pub_type
杂志文章,评审abstract::The cells of the renal medulla osmotically adapt to chronic alterations in extracellular tonicity by appropriate changes in the intracellular contents of organic osmoeffectors. The major organic osmolytes are glycerophosphorylcholine, betaine, myo-inositol, sorbitol, and, possibly, taurine. When the concentrations of ...
journal_title:Current opinion in nephrology and hypertension
pub_type: 杂志文章,评审
doi:10.1097/00041552-199210000-00007
更新日期:1992-10-01 00:00:00
abstract::After renal transplantation, acute allograft dysfunction secondary to acute rejection occurs in around 30-40% of patients. Although in the majority of patients these episodes are reversible, acute rejection remains a major risk factor for the development of chronic rejection. Remarkably, prior episodes of acute allogr...
journal_title:Current opinion in nephrology and hypertension
pub_type: 杂志文章,评审
doi:10.1097/00041552-199911000-00013
更新日期:1999-11-01 00:00:00
abstract:PURPOSE OF REVIEW:Incidence of end-stage renal disease has increased dramatically during the last 30 years and screening for early stages of chronic kidney disease is often suggested as a preventive measure. The relationship between chronic kidney disease and end-stage renal disease is complex, however, and recent stud...
journal_title:Current opinion in nephrology and hypertension
pub_type: 杂志文章,评审
doi:10.1097/MNH.0b013e3282f8b177
更新日期:2008-05-01 00:00:00
abstract:PURPOSE OF REVIEW:The purpose of this mini-review is to highlight some unresolved questions and controversies in the evolving story of apolipoprotein L1 (APOL1) nephropathy. RECENT FINDINGS:We highlight studies that introduce complexity in unraveling the mechanisms whereby APOL1 risk variant alleles cause disease. The...
journal_title:Current opinion in nephrology and hypertension
pub_type: 杂志文章,评审
doi:10.1097/MNH.0000000000000462
更新日期:2019-01-01 00:00:00
abstract::Vascular endothelial growth factor is a diffusible endothelial cell-specific mitogen and angiogenic factor that can also increase vascular permeability. The vascular endothelial growth factor receptors are specifically expressed on the cell surface of vascular endothelial cells. Recent studies point to vascular endoth...
journal_title:Current opinion in nephrology and hypertension
pub_type: 杂志文章,评审
doi:10.1097/00041552-199601000-00008
更新日期:1996-01-01 00:00:00
abstract:PURPOSE OF REVIEW:This review summarizes recent advances in the understanding of the molecular physiology and regulation of the thiazide-sensitive sodium-chloride cotransporter (NCC). RECENT FINDINGS:Mutations of with-no-lysine (WNK) kinases 1 and 4 result in hyperactivity of NCC and familial hyperkalemic hypertension...
journal_title:Current opinion in nephrology and hypertension
pub_type: 杂志文章,评审
doi:10.1097/MNH.0b013e32832f2fcb
更新日期:2009-09-01 00:00:00
abstract::Recent advances in the genetics of hypertension include studies on localizations of many loci involved in blood pressure regulation in the rat, elucidation of the molecular mechanisms underlying monogenetic forms of hypertension, and studies of candidate genes in primary hypertension. Evidence that the angiotensinogen...
journal_title:Current opinion in nephrology and hypertension
pub_type: 杂志文章,评审
doi:10.1097/00041552-199403000-00011
更新日期:1994-03-01 00:00:00
abstract:PURPOSE OF REVIEW:The term 'focal segmental glomerulosclerosis' covers a variety of diseases with different histopathological patterns. There is a need for clues to interpret histological findings in terms of etiology. Studies in transgenic animal models published in recent years have targeted the podocyte with respect...
journal_title:Current opinion in nephrology and hypertension
pub_type: 杂志文章,评审
doi:10.1097/MNH.0b013e3280c8eed3
更新日期:2007-05-01 00:00:00
abstract::Tests have become available that not only give an index of iron stores and availability but also provide an integrated assessment of the efficacy of its utilization. This has allowed the revision of previously accepted criteria of iron deficiency as well as the most appropriate strategies for iron administration. By o...
journal_title:Current opinion in nephrology and hypertension
pub_type: 杂志文章,评审
doi:10.1097/00041552-200011000-00013
更新日期:2000-11-01 00:00:00
abstract::Volume regulatory mechanisms are reviewed for both short- and long-term adaptation of renal cells to anisotonic media. Within minutes after exposure to hypotonic solutions a common feature of many renal cells is the increase in plasma membrane potassium and chloride conductances. Although extrusion of intracellular po...
journal_title:Current opinion in nephrology and hypertension
pub_type: 杂志文章
doi:10.1097/00041552-199609000-00007
更新日期:1996-09-01 00:00:00
abstract:PURPOSE OF REVIEW:Sodium-glucose cotransporter 2 (SGLT2) inhibitors are antihyperglycemic drugs that act by inhibiting renal sodium-glucose cotransport. Here we present new insights into 'off target', or indirect, effects of SGLT2 inhibitors. RECENT FINDINGS:SGLT2 inhibition causes an acute increase in urinary glucose...
journal_title:Current opinion in nephrology and hypertension
pub_type: 杂志文章
doi:10.1097/MNH.0000000000000632
更新日期:2020-09-01 00:00:00
abstract:PURPOSE OF REVIEW:Over the past decade post-hoc analyses of clinical trials and observational studies have tended to show that participants treated with thiazide diuretics are at greater risk for newly diagnosed diabetes mellitus than those treated with other medication classes. We review the results of several recent ...
journal_title:Current opinion in nephrology and hypertension
pub_type: 杂志文章,评审
doi:10.1097/MNH.0b013e328057dea2
更新日期:2007-05-01 00:00:00
abstract:PURPOSE OF REVIEW:African-Americans are more likely than Caucasians to develop hypertension-related end-stage renal disease. Elevations in blood pressure levels clearly potentiate pre-existing renal disease and also contribute to kidney injury independently of other primary renal diseases in this cohort. Until recently...
journal_title:Current opinion in nephrology and hypertension
pub_type: 杂志文章,评审
doi:10.1097/00041552-200301000-00013
更新日期:2003-01-01 00:00:00
abstract:PURPOSE OF REVIEW:The glomerular filtration barrier is a unique structure characterized by a specialized three-dimensional framework of podocytes. This review is aimed at describing the latest advances made in the understanding of polarity signalling pathways regulating the formation and the maintenance of the complex ...
journal_title:Current opinion in nephrology and hypertension
pub_type: 杂志文章,评审
doi:10.1097/MNH.0b013e32832e316d
更新日期:2009-07-01 00:00:00
abstract::Renal synthesis of the active form of vitamin D, 1,25-dihydroxyvitamin D3 [1,25(OH)2D3], is a pivotal step in calcium and phosphate homeostasis. Production of 1,25(OH)2D3 is catalyzed by the mitchondrial cytochrome P450, 25-hydroxyvitamin D3-1alpha-hydroxylase (1alpha-HYD). As a consequence of the tight regulation of ...
journal_title:Current opinion in nephrology and hypertension
pub_type: 杂志文章,评审
doi:10.1097/00041552-200001000-00004
更新日期:2000-01-01 00:00:00
abstract::There is substantial evidence to suggest that regular physical activity reduces the risk of heart disease. Less clear is the extent to which this is caused by blood pressure reduction. This review considers effects of exercise on blood pressure and overall cardiovascular risk in normotensive and hypertensive individua...
journal_title:Current opinion in nephrology and hypertension
pub_type: 杂志文章,评审
doi:10.1097/00041552-199505000-00008
更新日期:1995-05-01 00:00:00
abstract:PURPOSE OF REVIEW:The nephrology community lacks a unified view of protein sieving through the glomerular capillary wall. The glomerular capillary wall consists of three distinct but closely interacting layers: the fenestrated endothelium, with its glycocalyx; the podocytes, with their interdigitated foot processes and...
journal_title:Current opinion in nephrology and hypertension
pub_type: 杂志文章,评审
doi:10.1097/mnh.0b013e3283296044
更新日期:2009-05-01 00:00:00
abstract:PURPOSE OF REVIEW:Mammalian target of rapamycin (mTOR) is an evolutionarily conserved protein kinase. mTOR forms two distinct functional multiprotein kinase complexes that mutually phosphorylate different substrates and regulate a wide array of essential cellular processes including translation, transcription and autop...
journal_title:Current opinion in nephrology and hypertension
pub_type: 杂志文章,评审
doi:10.1097/MNH.0b013e3283520f38
更新日期:2012-05-01 00:00:00
abstract::The prevalence of hypertension is extremely high in end-stage renal disease, and is a probable contributor to the epidemic of cardiovascular disease in end-stage renal disease. However, the paucity of prospective, randomized clinical trials makes it difficult to precisely define treatment strategies. Therefore, at pre...
journal_title:Current opinion in nephrology and hypertension
pub_type: 杂志文章,评审
doi:10.1097/00041552-200005000-00012
更新日期:2000-05-01 00:00:00
abstract::The complex multifactorial inheritance pattern of systemic lupus erythematosus in various murine models has been dissected via both classic genetic analysis and the use of modern technologies in genomic manipulation. Current information suggests that lupus may be mediated by a multitude of genetic abnormalities that i...
journal_title:Current opinion in nephrology and hypertension
pub_type: 杂志文章,评审
doi:10.1097/00041552-200105000-00022
更新日期:2001-05-01 00:00:00
abstract::Proteinuria (protein excretion > 300 mg/d) is an independent risk factor for the development of cardiovascular disease and renal failure. The finding of persistent proteinuria in otherwise asymptomatic patients often precedes the development of arterial hypertension and renal failure. When proteinuria is accompanied b...
journal_title:Current opinion in nephrology and hypertension
pub_type: 杂志文章,评审
doi:10.1097/00041552-199311000-00017
更新日期:1993-11-01 00:00:00
abstract:PURPOSE OF REVIEW:Patients with chronic kidney disease (CKD) endure compromised health-related quality of life (HRQOL). Although the link between HRQOL and increased mortality in patients with end-stage renal disease (ESRD) is well documented, less is known about the relationship between CKD and HRQOL. This article rev...
journal_title:Current opinion in nephrology and hypertension
pub_type: 杂志文章,评审
doi:10.1097/MNH.0b013e328335f939
更新日期:2010-03-01 00:00:00
abstract::There has been an increasing focus on renovascular disease, particularly in renal failure, and on the role of renal angioplasty and stenting. Significant improvements have occurred in non-invasive imaging techniques. This review concentrates on the recent developments in imaging that specifically targets the renal art...
journal_title:Current opinion in nephrology and hypertension
pub_type: 杂志文章,评审
doi:10.1097/00041552-200211000-00011
更新日期:2002-11-01 00:00:00
abstract::The proximal tubule in the kidney is a main organ for the metabolic clearance of small peptide hormones, and is intensively involved in reabsorption, storage and homeostatic regulation of different vitamins. Recently, the endocytic membrane protein megalin has been shown to bind several smaller peptides, including ins...
journal_title:Current opinion in nephrology and hypertension
pub_type: 杂志文章,评审
doi:10.1097/00041552-199701000-00005
更新日期:1997-01-01 00:00:00
abstract::The aquaporin water channels are expressed in various fluid-transporting epithelia. Physiological and genetic investigations have revealed that aquaporin channel-like intrinsic protein is expressed in numerous tissues, but its significance in water transport physiology is unclear. It has been shown that aquaporin-coll...
journal_title:Current opinion in nephrology and hypertension
pub_type: 杂志文章,评审
doi:10.1097/00041552-199509000-00003
更新日期:1995-09-01 00:00:00
abstract:PURPOSE OF REVIEW:The pathogenesis and optimal therapy of renal bone disease remains poorly understood in chronic kidney disease (CKD) and dialysis patients. Bone biopsy is thus far the only window into cellular and molecular events in bone. This review will focus on recent insights into the pathophysiology of renal bo...
journal_title:Current opinion in nephrology and hypertension
pub_type: 杂志文章,评审
doi:10.1097/MNH.0b013e32835dda01
更新日期:2013-03-01 00:00:00
abstract:PURPOSE OF REVIEW:Identification of the mechanisms of magnesium absorption and reabsorption has markedly enhanced our understanding of the causes of hypomagnesemia. RECENT FINDINGS:New gastrointestinal and renal causes of hypomagnesemia have been recently documented. SUMMARY:The recognition of new mechanisms and caus...
journal_title:Current opinion in nephrology and hypertension
pub_type: 杂志文章,评审
doi:10.1097/MNH.0000000000000238
更新日期:2016-07-01 00:00:00
abstract:PURPOSE OF REVIEW:Vitamin D has diverse biological actions, and consequently the mechanisms behind how it regulates gene transcription are diverse. Unlike its well described positive effects on gene transcription, little is known about how vitamin D induces transcriptional repression. RECENT FINDINGS:Vitamin D-induced...
journal_title:Current opinion in nephrology and hypertension
pub_type: 杂志文章,评审
doi:10.1097/MNH.0b013e3281c55f16
更新日期:2007-07-01 00:00:00
abstract:PURPOSE OF REVIEW:Insulin resistance is a known complication of end-stage renal disease that also appears to be present in earlier stages of chronic kidney disease (CKD). It is a risk factor for cardiovascular disease and an important potential therapeutic target in this population. Measurement of insulin resistance is...
journal_title:Current opinion in nephrology and hypertension
pub_type: 杂志文章,评审
doi:10.1097/MNH.0b013e32834b23c1
更新日期:2011-11-01 00:00:00
abstract::Substantial evidence indicates that the adverse effects of hypertension on the kidney depend on the degree to which systemic blood pressure elevations are transmitted to the renal microvasculature. Such blood pressure transmission and consequent susceptibility to hypertensive renal damage is markedly exacerbated in st...
journal_title:Current opinion in nephrology and hypertension
pub_type: 杂志文章,评审
doi:10.1097/00041552-200201000-00011
更新日期:2002-01-01 00:00:00