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  1. Article ; Online: APOL1-mediated and Mendelian forms of "heretofore" idiopathic collapsing glomerulopathy: lessons from Brazil.

    Palmer, Nicholette D / Freedman, Barry I

    Kidney international

    2023  Volume 105, Issue 3, Page(s) 437–439

    Abstract: APOL1-mediated kidney diseases have forever changed nephrology and kidney transplantation. Neves et al. extend this field with analyses in admixed Brazilians with the most severe type of APOL1-mediated kidney disease, idiopathic collapsing glomerulopathy. ...

    Abstract APOL1-mediated kidney diseases have forever changed nephrology and kidney transplantation. Neves et al. extend this field with analyses in admixed Brazilians with the most severe type of APOL1-mediated kidney disease, idiopathic collapsing glomerulopathy. Causative gene variants were detected in 58.6% of patients; 80.5% had APOL1 high-risk genotypes, and 19.5% had causative Mendelian variants. Their work identifies the cause of previous idiopathic collapsing glomerulopathy and provides opportunities to identify novel modifiers in severe APOL1-mediated kidney diseases that are relevant beyond Brazil.
    MeSH term(s) Humans ; Apolipoprotein L1/genetics ; Brazil ; Kidney Transplantation ; Renal Insufficiency, Chronic ; South American People
    Chemical Substances Apolipoprotein L1 ; APOL1 protein, human
    Language English
    Publishing date 2023-10-12
    Publishing country United States
    Document type Journal Article
    ZDB-ID 120573-0
    ISSN 1523-1755 ; 0085-2538
    ISSN (online) 1523-1755
    ISSN 0085-2538
    DOI 10.1016/j.kint.2023.12.014
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 797: Show issues Location:
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  2. Article: PTH-Related Protein Assays in Advanced Kidney Disease: Implications for Evaluation of Hypercalcemia.

    Woldemichael, Jobira A / Pirela, Andres D / Freedman, Barry I

    Case reports in nephrology

    2023  Volume 2023, Page(s) 6678658

    Abstract: Hypercalcemia is a common and potentially serious electrolyte abnormality that is often observed in patients with chronic kidney disease (CKD). When malignancy is considered, parathyroid hormone-related protein (PTHrP) levels are often measured. PTHrP is ...

    Abstract Hypercalcemia is a common and potentially serious electrolyte abnormality that is often observed in patients with chronic kidney disease (CKD). When malignancy is considered, parathyroid hormone-related protein (PTHrP) levels are often measured. PTHrP is produced by cancer cells and mimics the effects of parathyroid hormone (PTH) to elevate serum calcium concentrations. The amino and carboxy termini of PTHrP are of functional relevance. C-terminal PTHrP levels accumulate with CKD and can be elevated in normocalcemic CKD patients who lack malignancy. The existence of amino (N)-terminal and carboxy (C)-terminal PTHrP assays and how their concentrations are impacted by CKD are reviewed herein. The case of a patient on maintenance hemodialysis who developed prolonged hypercalcemia with elevated PTHrP concentrations is presented. The workup revealed suppressed intact PTH, low 25-hydroxyvitamin D, and 1,25-dihydroxyvitamin D levels. The initial PTHrP assay returned elevated. However, it was unappreciated that it was the C-terminal assay and the patient underwent an unnecessary search for malignancy. A subsequent N-terminal PTHrP assay returned within the normal range. Many commercial labs run the C-terminal PTHrP assay as their first-line test. This can lead to inaccurate differential diagnoses in hypercalcemic patients with CKD. We emphasize the need to specifically request N-terminal PTHrP assays in patients with advanced kidney disease when humoral hypercalcemia of malignancy is suspected.
    Language English
    Publishing date 2023-09-19
    Publishing country United States
    Document type Case Reports
    ZDB-ID 2627652-5
    ISSN 2090-665X ; 2090-6641
    ISSN (online) 2090-665X
    ISSN 2090-6641
    DOI 10.1155/2023/6678658
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: APOL1 genotyping in kidney transplantation: to do or not to do, that is the question? (pro).

    Freedman, Barry I / Poggio, Emilio D

    Kidney international

    2021  Volume 100, Issue 1, Page(s) 27–30

    MeSH term(s) Apolipoprotein L1/genetics ; Donor Selection ; Genotype ; Humans ; Kidney Transplantation/adverse effects ; Living Donors
    Chemical Substances APOL1 protein, human ; Apolipoprotein L1
    Language English
    Publishing date 2021-06-18
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural
    ZDB-ID 120573-0
    ISSN 1523-1755 ; 0085-2538
    ISSN (online) 1523-1755
    ISSN 0085-2538
    DOI 10.1016/j.kint.2020.11.025
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: APOL1-associated kidney disease in northern Nigerians with treated HIV infection.

    Olabisi, Opeyemi A / Freedman, Barry I

    Kidney international

    2021  Volume 100, Issue 1, Page(s) 19–21

    Abstract: Apolipoprotein L1 (APOL1) high-risk genotypes strongly associate with HIV-associated nephropathy, and antiretroviral therapy reduces the incidence of HIV-associated nephropathy and progression to end-stage kidney disease. Wudil et al. report cross- ... ...

    Abstract Apolipoprotein L1 (APOL1) high-risk genotypes strongly associate with HIV-associated nephropathy, and antiretroviral therapy reduces the incidence of HIV-associated nephropathy and progression to end-stage kidney disease. Wudil et al. report cross-sectional APOL1 associations with proteinuria and estimated glomerular filtration rate in a northern Nigerian sample with HIV infection on antiretroviral therapy. Multiple ethnic groups with different APOL1 risk variant frequencies were included. Overall, APOL1 was associated with proteinuric chronic kidney disease; however, relationships with underlying causes of nephropathy and progression rates require further study.
    MeSH term(s) Adult ; Apolipoprotein L1/genetics ; Apolipoproteins/genetics ; Cross-Sectional Studies ; Genotype ; HIV Infections/complications ; HIV Infections/drug therapy ; HIV Infections/epidemiology ; Humans ; Kidney ; Lipoproteins, HDL/genetics ; Nigeria ; Phenotype
    Chemical Substances APOL1 protein, human ; Apolipoprotein L1 ; Apolipoproteins ; Lipoproteins, HDL
    Language English
    Publishing date 2021-05-15
    Publishing country United States
    Document type Journal Article ; Comment
    ZDB-ID 120573-0
    ISSN 1523-1755 ; 0085-2538
    ISSN (online) 1523-1755
    ISSN 0085-2538
    DOI 10.1016/j.kint.2021.04.023
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Treatment potential in APOL1-associated nephropathy.

    Friedman, David J / Ma, Lijun / Freedman, Barry I

    Current opinion in nephrology and hypertension

    2022  Volume 31, Issue 5, Page(s) 442–448

    Abstract: Purpose of review: More than 5 million African-Americans, and millions more in Africa and worldwide, possess apolipoprotein L1 gene (APOL1) high-risk genotypes with an increased risk for chronic kidney disease. This manuscript reviews treatment ... ...

    Abstract Purpose of review: More than 5 million African-Americans, and millions more in Africa and worldwide, possess apolipoprotein L1 gene (APOL1) high-risk genotypes with an increased risk for chronic kidney disease. This manuscript reviews treatment approaches for slowing the progression of APOL1-associated nephropathy.
    Recent findings: Since the 2010 discovery of APOL1 as a cause of nondiabetic nephropathy in individuals with sub-Saharan African ancestry, it has become apparent that aggressive hypertension control, renin-angiotensin system blockade, steroids and conventional immunosuppressive agents are suboptimal treatments. In contrast, APOL1-mediated collapsing glomerulopathy due to interferon treatment and HIV infection, respectively, often resolve with cessation of interferon or antiretroviral therapy. Targeted therapies, including APOL1 small molecule inhibitors, APOL1 antisense oligonucleotides (ASO) and inhibitors of APOL1-associated inflammatory pathways, hold promise for these diseases. Evolving therapies and the need for clinical trials support the importance of increased use of APOL1 genotyping and kidney biopsy.
    Summary: APOL1-associated nephropathy includes a group of related phenotypes that are driven by the same two genetic variants in APOL1. Clinical trials of small molecule inhibitors, ASO, and inflammatory pathway inhibitors may improve outcomes in patients with primary forms of APOL1-associated nephropathy.
    MeSH term(s) Apolipoprotein L1/genetics ; Apolipoprotein L1/metabolism ; Genetic Predisposition to Disease ; Genotype ; HIV Infections ; Humans ; Interferons/genetics ; Renal Insufficiency, Chronic/drug therapy ; Renal Insufficiency, Chronic/genetics
    Chemical Substances APOL1 protein, human ; Apolipoprotein L1 ; Interferons (9008-11-1)
    Language English
    Publishing date 2022-07-11
    Publishing country England
    Document type Journal Article ; Review ; Research Support, N.I.H., Extramural ; Research Support, U.S. Gov't, Non-P.H.S.
    ZDB-ID 1151092-4
    ISSN 1473-6543 ; 1535-3842 ; 1062-4813 ; 1062-4821
    ISSN (online) 1473-6543 ; 1535-3842
    ISSN 1062-4813 ; 1062-4821
    DOI 10.1097/MNH.0000000000000816
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 3686: Show issues Location:
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  6. Article ; Online: Apolipoprotein L1 Gene Testing Comes of Age.

    Freedman, Barry I / Larsen, Chris P

    Kidney360

    2020  Volume 1, Issue 1, Page(s) 58–61

    MeSH term(s) Apolipoprotein L1/genetics ; Genetic Testing ; Kidney Transplantation
    Chemical Substances Apolipoprotein L1
    Language English
    Publishing date 2020-01-08
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural
    ISSN 2641-7650
    ISSN (online) 2641-7650
    DOI 10.34067/KID.0000162019
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  7. Article ; Online: Mechanisms of Stroke in Patients with Chronic Kidney Disease.

    Ghoshal, Shivani / Freedman, Barry I

    American journal of nephrology

    2019  Volume 50, Issue 4, Page(s) 229–239

    Abstract: Background: Given the increasing worldwide prevalence of chronic kidney disease (CKD), it is critical to decrease the associated risk of debilitating vascular complications, including stroke, congestive heart failure, myocardial infarction, and ... ...

    Abstract Background: Given the increasing worldwide prevalence of chronic kidney disease (CKD), it is critical to decrease the associated risk of debilitating vascular complications, including stroke, congestive heart failure, myocardial infarction, and peripheral vascular disease. Treatment options for reducing the risk of all subtypes of stroke in patients with CKD remain limited. For patients with end-stage kidney disease (ESKD), novel applications of noninvasive imaging may help personalize the type of dialysis and dialysis prescription for patients at high-risk.
    Summary: This manuscript reviews the heightened risk of stroke in patients with nephropathy, including ischemic and hemorrhagic subtypes. Mechanisms associated with increased risk include alterations in cardiac output, platelet function, regional cerebral perfusion, accelerated systemic atherosclerosis, altered blood brain barrier, and disordered neurovascular coupling. There is great potential for noninvasive monitoring of the cerebral vasculature using transcranial Doppler (TCD) to reduce stroke risk, particularly in patients with ESKD. Key Messages: Compared to the general population, patients with CKD are at heightened risk for all subtypes of stroke. This is due to a multitude of mechanisms linking nephropathy with altered cerebral perfusion, cerebral neurovascular coupling, and blood vessel integrity. Intracranial imaging is not currently standard of care practice in patients with CKD or ESKD. TCD may provide clinicians real-time and noninvasive measurement of brain perfusion. This could be useful for assessing risk of stroke in patients' initiating dialysis, individualizing dialysis prescriptions, and potentially reducing rates of cerebrovascular disease and stroke in high-risk patients.
    MeSH term(s) Brain/pathology ; Brain Ischemia/complications ; Brain Ischemia/epidemiology ; Brain Ischemia/physiopathology ; Cerebral Hemorrhage/complications ; Cerebral Hemorrhage/epidemiology ; Cerebral Hemorrhage/physiopathology ; Hemodynamics ; Humans ; Kidney/physiopathology ; Kidney Failure, Chronic/complications ; Kidney Failure, Chronic/epidemiology ; Kidney Failure, Chronic/physiopathology ; Perfusion ; Renal Dialysis ; Renal Insufficiency, Chronic/complications ; Renal Insufficiency, Chronic/epidemiology ; Renal Insufficiency, Chronic/physiopathology ; Risk Factors ; Stroke/complications ; Stroke/physiopathology ; Ultrasonography, Doppler
    Language English
    Publishing date 2019-08-28
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 604540-6
    ISSN 1421-9670 ; 0250-8095
    ISSN (online) 1421-9670
    ISSN 0250-8095
    DOI 10.1159/000502446
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 1635: Show issues Location:
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  8. Article ; Online: APOL1 and kidney disease: new insights leading to novel therapies.

    Freedman, Barry I

    American journal of kidney diseases : the official journal of the National Kidney Foundation

    2015  Volume 66, Issue 1, Page(s) 9–11

    MeSH term(s) African Americans/genetics ; Apolipoprotein L1 ; Apolipoproteins/genetics ; Apolipoproteins/physiology ; Disease Progression ; Donor Selection ; Genetic Predisposition to Disease ; Genetic Testing ; Genotype ; Glomerulosclerosis, Focal Segmental/diagnosis ; Glomerulosclerosis, Focal Segmental/ethnology ; Glomerulosclerosis, Focal Segmental/genetics ; Humans ; Hypertension/diagnosis ; Hypertension/physiopathology ; Hypertension, Renal/diagnosis ; Kidney Diseases/ethnology ; Kidney Diseases/etiology ; Kidney Diseases/genetics ; Kidney Diseases/prevention & control ; Lipoproteins, HDL/genetics ; Lipoproteins, HDL/physiology ; Renal Replacement Therapy/statistics & numerical data ; Therapies, Investigational ; Tissue Donors
    Chemical Substances APOL1 protein, human ; Apolipoprotein L1 ; Apolipoproteins ; Lipoproteins, HDL
    Language English
    Publishing date 2015-07
    Publishing country United States
    Document type Editorial
    ZDB-ID 604539-x
    ISSN 1523-6838 ; 0272-6386
    ISSN (online) 1523-6838
    ISSN 0272-6386
    DOI 10.1053/j.ajkd.2015.05.005
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    Zs.MO 468: Show issues

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  9. Article ; Online: Recipient APOL1 Genotype Effects on Outcomes After Kidney Transplantation.

    Freedman, Barry I / Mena-Gutierrez, Alejandra M / Ma, Lijun

    American journal of kidney diseases : the official journal of the National Kidney Foundation

    2021  Volume 79, Issue 3, Page(s) 450–452

    MeSH term(s) Apolipoprotein L1/genetics ; Genotype ; Graft Survival/genetics ; Humans ; Kidney Transplantation
    Chemical Substances APOL1 protein, human ; Apolipoprotein L1
    Language English
    Publishing date 2021-11-18
    Publishing country United States
    Document type Editorial ; Research Support, N.I.H., Extramural ; Comment
    ZDB-ID 604539-x
    ISSN 1523-6838 ; 0272-6386
    ISSN (online) 1523-6838
    ISSN 0272-6386
    DOI 10.1053/j.ajkd.2021.11.001
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  10. Article ; Online: Biologic Underpinnings of Type 1 Diabetic Kidney Disease.

    Sedor, John R / Freedman, Barry I

    Journal of the American Society of Nephrology : JASN

    2019  Volume 30, Issue 10, Page(s) 1782–1783

    MeSH term(s) Biological Products ; Collagen ; Diabetes Mellitus, Type 2 ; Diabetic Nephropathies ; Genome-Wide Association Study ; Glomerular Basement Membrane ; Humans ; Kidney Failure, Chronic
    Chemical Substances Biological Products ; Collagen (9007-34-5)
    Language English
    Publishing date 2019-09-19
    Publishing country United States
    Document type Editorial ; Comment
    ZDB-ID 1085942-1
    ISSN 1533-3450 ; 1046-6673
    ISSN (online) 1533-3450
    ISSN 1046-6673
    DOI 10.1681/ASN.2019080803
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