keyword
https://read.qxmd.com/read/33066744/design-and-methods-of-the-prevalence-and-pharmacogenomics-of-tenofovir-nephrotoxicity-in-hiv-positive-adults-in-south-western-nigeria-study
#1
Muzamil O Hassan, Raquel Duarte, Victor O Mabayoje, Caroline Dickens, Akeem O Lasisi, Saraladevi Naicker
BACKGROUND: Individuals of African descent are at higher risk of developing kidney disease than their European counterparts, and HIV infection is associated with increased risk of nephropathy. Despite a safe renal profile in the clinical trials, long-term use of tenofovir disoproxil fumarate (TDF) has been associated with proximal renal tubulopathy although the underlying mechanisms remain undetermined. We aim to establish the prevalence of and risk factors for TDF-induced kidney tubular dysfunction (KTD) among HIV-I and II individuals treated with TDF in south-west Nigeria...
October 16, 2020: BMC Nephrology
https://read.qxmd.com/read/32972761/minimal-change-disease-with-nephrotic-syndrome-associated-with-coronavirus-disease-2019-after-apolipoprotein-l1-risk-variant-kidney-transplant-a-case-report
#2
Masaaki Yamada, Prerna Rastogi, Dilek Ince, Abdullah Thayyil, M Adela Mansilla, Richard J H Smith, Sarat Kuppachi, Christie P Thomas
Kidney injury is a well-known complication in people with coronavirus disease 2019 (COVID-19). In kidney transplant recipients with COVID-19, presentation with nephrotic syndrome has not been well described. We report on a 49-year-old black female kidney transplant recipient who presented 25 years after transplant with clinical features of nephrotic syndrome following a diagnosis of COVID-19. Histologic examination showed acute tubular injury with unremarkable glomeruli on light microscopy and diffuse foot process effacement of podocytes on electron microscopy, consistent with minimal change-like podocyte injury...
August 20, 2020: Transplantation Proceedings
https://read.qxmd.com/read/32866949/an-acidic-environment-induces-apol1-associated-mitochondrial-fragmentation
#3
DengFeng Li, James A Snipes, Mariana Murea, Anthony J A Molina, Jasmin Divers, Barry I Freedman, Lijun Ma, Snezana Petrovic
BACKGROUND: Apolipoprotein L1 gene (APOL1) G1 and G2 kidney-risk variants (KRVs) cause CKD in African Americans, inducing mitochondrial dysfunction. Modifying factors are required, because a minority of individuals with APOL1 high-risk genotypes develop nephropathy. Given that APOL1 function is pH-sensitive and the pH of the kidney interstitium is <7, we hypothesized the acidic kidney interstitium may facilitate APOL1 KRV-induced mitochondrial dysfunction. METHODS: Human embryonic kidney (HEK293) cells conditionally expressing empty vector (EV), APOL1-reference G0, and G1 or G2 KRVs were incubated in media pH 6...
August 31, 2020: American Journal of Nephrology
https://read.qxmd.com/read/32675303/kidney-disease-associated-apol1-variants-have-dose-dependent-dominant-toxic-gain-of-function
#4
Somenath Datta, Rama Kataria, Jia-Yue Zhang, Savannah Moore, Kaitlyn Petitpas, Adam Mohamed, Nathan Zahler, Martin R Pollak, Opeyemi A Olabisi
BACKGROUND: Two coding renal risk variants (RRVs) of the APOL1 gene (G1 and G2) are associated with large increases in CKD rates among populations of recent African descent, but the underlying molecular mechanisms are unknown. Mammalian cell culture models are widely used to study cytotoxicity of RRVs, but results have been contradictory. It remains unclear whether cytotoxicity is RRV-dependent or driven solely by variant-independent overexpression. It is also unknown whether expression of the reference APOL1 allele, the wild-type G0, could prevent cytotoxicity of RRVs...
July 16, 2020: Journal of the American Society of Nephrology: JASN
https://read.qxmd.com/read/32656538/profiling-apol1-nephropathy-risk-variants-in-genome-edited-kidney-organoids-with-single-cell-transcriptomics
#5
Esther Liu, Behram Radmanesh, Byungha H Chung, Michael D Donnan, Dan Yi, Amal Dadi, Kelly D Smith, Jonathan Himmelfarb, Mingyao Li, Benjamin S Freedman, Jennie Lin
Background: DNA variants in APOL1 associate with kidney disease, but the pathophysiologic mechanisms remain incompletely understood. Model organisms lack the APOL1 gene, limiting the degree to which disease states can be recapitulated. Here we present single-cell RNA sequencing (scRNA-seq) of genome-edited human kidney organoids as a platform for profiling effects of APOL1 risk variants in diverse nephron cell types. Methods: We performed footprint-free CRISPR-Cas9 genome editing of human induced pluripotent stem cells (iPSCs) to knock in APOL1 high-risk G1 variants at the native genomic locus...
March 2020: Kidney360
https://read.qxmd.com/read/32621069/rapid-progression-to-end-stage-renal-disease-in-a-child-with-iga-dominant-infection-related-glomerulonephritis-associated-with-parvovirus-b19
#6
Yoko Shirai, Kenichiro Miura, Tomoo Yabuuchi, Takeshi Nagasawa, Kiyonobu Ishizuka, Kazuhiro Takahashi, Sekiko Taneda, Kazuho Honda, Yutaka Yamaguchi, Hitoshi Suzuki, Yusuke Suzuki, Motoshi Hattori
Parvovirus B19 (PVB19) has been known to cause acute glomerulonephritis and nephrotic syndrome with various renal histologic patterns, such as endocapillary glomerulonephritis and collapsing glomerulopathy. Remission is achieved spontaneously or by treatment with steroid and/or immunosuppressants in most patients, except those with sickle cell anemia or two APOL1 risk alleles. In this study, we report the case of a previously healthy 5-year-old boy with infection-related glomerulonephritis (IRGN) associated with PVB19 that progressed to end-stage renal disease (ESRD)...
July 3, 2020: CEN Case Reports
https://read.qxmd.com/read/32616495/apol1-nephropathy-from-genetics-to-clinical-applications
#7
David J Friedman, Martin R Pollak
Rates of many types of severe kidney disease are much higher in blacks than most other groups. Much of this disparity can now be attributed to genetic variants in the apoL1 (APOL1) gene found only in individuals with recent African ancestry. These variants greatly increase rates of hypertension-associated ESKD, FSGS, HIV-associated nephropathy, and other forms of nondiabetic kidney disease. We discuss the population genetics of APOL1 risk variants and the clinical spectrum of APOL1 nephropathy. We then consider clinical issues that arise for the practicing nephrologist caring for the patient who may have APOL1 kidney disease...
July 2, 2020: Clinical Journal of the American Society of Nephrology: CJASN
https://read.qxmd.com/read/32561682/aki-and-collapsing-glomerulopathy-associated-with-covid-19-and-apol-1-high-risk-genotype
#8
Huijuan Wu, Christopher P Larsen, Cesar F Hernandez-Arroyo, Muner M B Mohamed, Tiffany Caza, Moh'd Sharshir, Asim Chughtai, Liping Xie, Juan M Gimenez, Tyler A Sandow, Mark A Lusco, Haichun Yang, Ellen Acheampong, Ivy A Rosales, Robert B Colvin, Agnes B Fogo, Juan Carlos Q Velez
BACKGROUND: Kidney involvement is a feature of COVID-19 and it can be severe in Black patients. Previous research linked increased susceptibility to collapsing glomerulopathy, including in patients with HIV-associated nephropathy, to apo L1 ( APOL1 ) variants that are more common in those of African descent. METHODS: To investigate genetic, histopathologic, and molecular features in six Black patients with COVID-19 presenting with AKI and de novo nephrotic-range proteinuria, we obtained biopsied kidney tissue, which was examined by in situ hybridization for viral detection and by NanoString for COVID-19 and acute tubular injury-associated genes...
August 2020: Journal of the American Society of Nephrology: JASN
https://read.qxmd.com/read/32444394/malaria-collapsing-glomerulopathy-and-focal-and-segmental-glomerulosclerosis
#9
Ariane Amoura, Anissa Moktefi, Matthieu Halfon, Alexandre Karras, Cédric Rafat, Jean-Baptiste Gibier, Patrick J Gleeson, Aude Servais, Nicolas Argy, Pascale Maillé, Xavier Belenfant, Victor Gueutin, Alexia Delpierre, Leila Tricot, Khalil El Karoui, Noémie Jourde-Chiche, Sandrine Houze, Dil Sahali, Vincent Audard
BACKGROUND AND OBJECTIVES: Malaria, a potentially life-threatening disease, is the most prevalent endemic infectious disease worldwide. In the modern era, the spectrum of glomerular involvement observed in patients after malarial infections remains poorly described. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: We therefore performed a retrospective multicenter study to assess the clinical, biologic, pathologic, and therapeutic characteristics of patients with glomerular disease demonstrated by kidney biopsy in France within 3 months of an acute malaria episode...
July 1, 2020: Clinical Journal of the American Society of Nephrology: CJASN
https://read.qxmd.com/read/32354559/association-of-genetic-polymorphisms-of-tgf-%C3%AE-1-hmox1-and-apol1-with-ckd-in-nigerian-patients-with-and-without-hiv
#10
Udeme E Ekrikpo, Khuthala Mnika, Emmanuel E Effa, Samuel O Ajayi, Chimezie Okwuonu, Bala Waziri, Aminu Bello, Collet Dandara, Andre P Kengne, Ambroise Wonkam, Ikechi Okpechi
RATIONALE & OBJECTIVE: Recent studies in the human immunodeficiency virus (HIV)-infected population have suggested that there are genetic predispositions to the development of chronic kidney disease (CKD) in this context. We investigated the association of genetic polymorphisms of the genes encoding apolipoprotein L1 (APOL1), transforming growth factor β1 (TGF-β1; a profibrotic cytokine), and heme oxygenase 1 (HMOX1) with prevalent CKD among adults with and without HIV infection...
April 27, 2020: American Journal of Kidney Diseases
https://read.qxmd.com/read/31732553/a-single-apol1-nephropathy-variant-increases-risk-of-advanced-lupus-nephritis-in-brazilians
#11
Gisele Vajgel, Suelen Cristina Lima, Diego Jeronimo S Santana, Camila B L Oliveira, Denise Maria N Costa, Pamela J Hicks, Maria Alina G M Cavalcante, Carl D Langefeld, Lucila Maria Valente, Sergio Crovella, Gianna Mastroianni Kirsztajn, Barry I Freedman, Paula Sandrin-Garcia
OBJECTIVE: Apolipoprotein L1 gene (APOL1) G1 and G2 renal-risk alleles (RRAs) are associated with end-stage renal disease (ESRD) in blacks with lupus nephritis (LN). The present study determined frequencies of APOL1 RRAs in non-white Brazilian patients with LN and controls to assess association with renal outcomes. METHODS: APOL1 RRAs were genotyped in 222 healthy blood donors (controls) and 201 cases with LN from three outpatient clinics. Two single nucleotide polymorphisms in the G1 (rs73885319; rs60910145) and an indel for the G2 (rs71785313) variant were genotyped...
November 15, 2019: Journal of Rheumatology
https://read.qxmd.com/read/31710572/-apol1-and-kidney-disease-from-genetics-to-biology
#12
David J Friedman, Martin R Pollak
Genetic variants in the APOL1 gene, found only in individuals of recent African ancestry, greatly increase risk of multiple types of kidney disease. These APOL1 kidney risk alleles are a rare example of genetic variants that are common but also have a powerful effect on disease susceptibility. These alleles rose to high frequency in sub-Saharan Africa because they conferred protection against pathogenic trypanosomes that cause African sleeping sickness. We consider the genetic evidence supporting the association between APOL1 and kidney disease across the range of clinical phenotypes in the APOL1 nephropathy spectrum...
February 10, 2020: Annual Review of Physiology
https://read.qxmd.com/read/31704670/-apol1-nephropathy-risk-variant-associations-with-diseases-beyond-the-kidney-apol1-and-sepsis
#13
EDITORIAL
Lijun Ma, Barry I Freedman
No abstract text is available yet for this article.
December 6, 2019: Clinical Journal of the American Society of Nephrology: CJASN
https://read.qxmd.com/read/31704668/-apol1-nephropathy-risk-alleles-and-risk-of-sepsis-in-blacks
#14
Ninad S Chaudhary, Justin X Moore, Neil A Zakai, Suzanne E Judd, Rakhi P Naik, Sophie Limou, Mary Cushman, Leslie A Lange, Henry E Wang, Cheryl A Winkler, Marguerite R Irvin, Jeffrey B Kopp, Orlando M Gutiérrez
BACKGROUND AND OBJECTIVES: apo L1 ( APOL1 ) nephropathy risk alleles are associated with CKD in blacks. Although APOL1 has innate immune functions, little is known about the association of APOL1 genotypes with risk of infectious outcomes, such as sepsis. The objective of this study was to examine the associations of APOL1 nephropathy risk alleles with risk of sepsis in black adults. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: We assessed the association of APOL1 risk alleles with incident sepsis in 10,366 black participants of the Reasons for Geographic and Racial Differences in Stroke study enrolled between 2003 and 2007 with follow-up through December 31, 2012...
December 6, 2019: Clinical Journal of the American Society of Nephrology: CJASN
https://read.qxmd.com/read/31661509/apol1-g0-protects-podocytes-in-a-mouse-model-of-hiv-associated-nephropathy
#15
Leslie A Bruggeman, Zhenzhen Wu, Liping Luo, Sethu Madhavan, Paul E Drawz, David B Thomas, Laura Barisoni, John F O'Toole, John R Sedor
African polymorphisms in the gene for Apolipoprotein L1 (APOL1) confer a survival advantage against lethal trypanosomiasis but also an increased risk for several chronic kidney diseases (CKD) including HIV-associated nephropathy (HIVAN). APOL1 is expressed in renal cells, however, the pathogenic events that lead to renal cell damage and kidney disease are not fully understood. The podocyte function of APOL1-G0 versus APOL1-G2 in the setting of a known disease stressor was assessed using transgenic mouse models...
2019: PloS One
https://read.qxmd.com/read/31601430/apol1-associated-collapsing-focal-segmental-glomerulosclerosis-in-a-patient-with-stimulator-of-interferon-genes-sting-associated-vasculopathy-with-onset-in-infancy-savi
#16
Qassim Abid, Alejandro Best Rocha, Christopher P Larsen, Grant Schulert, Rebecca Marsh, Shima Yasin, Cathy Patty-Resk, Rudolph P Valentini, Matthew Adams, Rossana Baracco
Apolipoprotein L1 (APOL1) risk variants G1 and G2 are known to result in risk for kidney disease in patients of African ancestry. APOL1-associated nephropathy typically occurs in association with certain environmental factors or systemic diseases. As such, there has been increasing evidence of the role of interferon (IFN) pathways in the pathogenesis of APOL1-associated collapsing glomerulopathy in patients with human immunodeficiency virus (HIV) infection and systemic lupus erythematosus, 2 conditions that are associated with high IFN levels...
October 7, 2019: American Journal of Kidney Diseases
https://read.qxmd.com/read/31563468/apol1-nephropathy-risk-alleles-and-mortality-in-african-american-adults-a-cohort-study
#17
Orlando M Gutiérrez, Marguerite R Irvin, Neil A Zakai, Rakhi P Naik, Ninad S Chaudhary, Michelle M Estrella, Sophie Limou, Suzanne E Judd, Mary Cushman, Jeffrey B Kopp, Cheryl A Winkler
RATIONALE & OBJECTIVE: APOL1 nephropathy risk alleles are associated with the development of chronic kidney disease (CKD) in African Americans. Although CKD is an established risk factor for mortality, associations of APOL1 risk alleles with mortality are uncertain. STUDY DESIGN: Prospective cohort. SETTINGS & PARTICIPANTS: 10,380 African American and 17,485 white American participants in the Reasons for Geographic and Racial Differences in Stroke (REGARDS) Study...
January 2020: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
https://read.qxmd.com/read/31549630/hypertension-and-kidney-disease-progression
#18
Diego Rigo, Marcelo Orias
Hypertension is a common finding in patients with chronic kidney disease (CKD) and it is associated with kidney disease progression. Hypertensive nephropathy is a diagnosis, mostly based on clinical suspicion and defines many cases of CKD of unknown etiology. The risk of progression of hypertension-attributed nephropathy seems to have a genetic background as has been demonstrated in African-American patients with APOL1 gene risk variants.
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September 24, 2019: Clinical Nephrology
https://read.qxmd.com/read/31480040/apolipoprotein-l1-testing-in-african-americans-involving-the-community-in-policy-discussions
#19
Bessie A Young, Erika Blacksher, Kerri L Cavanaugh, Barry I Freedman, Stephanie M Fullerton, Jeffrey B Kopp, Ebele M Umeukeje, Kathleen M West, James G Wilson, Wylie Burke
BACKGROUND: Apolipoprotein A1 (APOL1) gene variants occurring in people of West African descent contribute to the greater burden of kidney disease among African Americans. These variants are associated with increased risk of nondiabetic nephropathy, more rapid progression of chronic kidney disease, and shorter survival of donor kidneys after transplantation. However, only a minority of people with APOL1-associated risk develops kidney disease and specific clinical measures to address APOL1-associated risk are lacking...
September 3, 2019: American Journal of Nephrology
https://read.qxmd.com/read/31449181/practical-considerations-for-apol1-genotyping-in-the-living-kidney-donor-evaluation
#20
Alejandra M Mena-Gutierrez, Amber M Reeves-Daniel, Colleen L Jay, Barry I Freedman
BACKGROUND: Association between the apolipoprotein L1 gene (APOL1) and nephropathy has altered the epidemiology of chronic kidney disease (CKD). In addition, donor APOL1 genotypes play important roles in the time to allograft failure in kidneys transplanted from deceased donors and the safety of living kidney donation. METHODS: This manuscript reviews genetic testing for inherited kidney disease in living kidney donors to improve donor safety. APOL1 genotyping in donors with recent African ancestry is considered...
August 19, 2019: Transplantation
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