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  1. Article ; Online: Genetic testing and glomerular hematuria-A nephrologist's perspective.

    Kashtan, Clifford E

    American journal of medical genetics. Part C, Seminars in medical genetics

    2022  Volume 190, Issue 3, Page(s) 399–403

    Abstract: Alport syndrome is an inherited disorder of the kidneys that results from variants in three collagen IV genes-COL4A3, COL4A4, and COL4A5. Early diagnosis and pharmacologic intervention can delay the progression of chronic kidney disease and the onset of ... ...

    Abstract Alport syndrome is an inherited disorder of the kidneys that results from variants in three collagen IV genes-COL4A3, COL4A4, and COL4A5. Early diagnosis and pharmacologic intervention can delay the progression of chronic kidney disease and the onset of kidney failure in patients with Alport syndrome. This article describes the evolution of approaches to the diagnosis and early treatment of Alport syndrome.
    MeSH term(s) Humans ; Nephritis, Hereditary/complications ; Nephritis, Hereditary/diagnosis ; Nephritis, Hereditary/genetics ; Hematuria/diagnosis ; Hematuria/genetics ; Nephrologists ; Collagen Type IV/genetics ; Genetic Testing ; Mutation
    Chemical Substances Collagen Type IV
    Language English
    Publishing date 2022-07-01
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 2108622-9
    ISSN 1552-4876 ; 0148-7299 ; 1552-4868
    ISSN (online) 1552-4876
    ISSN 0148-7299 ; 1552-4868
    DOI 10.1002/ajmg.c.31987
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 1376/C: Show issues Location:
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  2. Article ; Online: What the Adult Nephrologist Should Know About Alport Syndrome.

    Kashtan, Clifford E

    Advances in chronic kidney disease

    2022  Volume 29, Issue 3, Page(s) 225–230

    Abstract: Recent trends in the diagnosis, treatment, and classification of collagen IV-associated kidney disease are likely to result in increasing numbers of people in adult nephrology practices who have a confirmed diagnosis of Alport syndrome. These trends ... ...

    Abstract Recent trends in the diagnosis, treatment, and classification of collagen IV-associated kidney disease are likely to result in increasing numbers of people in adult nephrology practices who have a confirmed diagnosis of Alport syndrome. These trends include the increasing use of genetic testing in the diagnostic evaluation of people with hematuria, focal segmental glomerulosclerosis, and chronic kidney disease of unknown etiology; early treatment with inhibitors of the renin-angiotensin-aldosterone system to delay kidney failure; and application of an expanded definition of Alport syndrome based on genotype rather than phenotype. This commentary discusses these trends and their implications for the adult nephrologist.
    MeSH term(s) Collagen Type IV/genetics ; Hematuria ; Humans ; Kidney ; Nephritis, Hereditary/diagnosis ; Nephritis, Hereditary/genetics ; Nephritis, Hereditary/therapy ; Nephrologists
    Chemical Substances Collagen Type IV
    Language English
    Publishing date 2022-09-09
    Publishing country United States
    Document type Journal Article ; Review
    ISSN 1548-5609 ; 1548-5595
    ISSN (online) 1548-5609
    ISSN 1548-5595
    DOI 10.1053/j.ackd.2021.08.003
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 4627: Show issues Location:
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  3. Article ; Online: Alport Syndrome: Achieving Early Diagnosis and Treatment.

    Kashtan, Clifford E

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

    2020  Volume 77, Issue 2, Page(s) 272–279

    Abstract: Alport syndrome is a genetically and phenotypically heterogeneous disorder of glomerular, cochlear, and ocular basement membranes resulting from mutations in the collagen IV genes COL4A3, COL4A4, and COL4A5. Alport syndrome can be transmitted as an X- ... ...

    Abstract Alport syndrome is a genetically and phenotypically heterogeneous disorder of glomerular, cochlear, and ocular basement membranes resulting from mutations in the collagen IV genes COL4A3, COL4A4, and COL4A5. Alport syndrome can be transmitted as an X-linked, autosomal recessive, or autosomal dominant disorder. Individuals with Alport syndrome have a significant lifetime risk for kidney failure, as well as sensorineural deafness and ocular abnormalities. The availability of effective intervention for Alport syndrome-related kidney disease makes early diagnosis crucial, but this can be impeded by the genotypic and phenotypic complexity of the disorder. This review presents an approach to enhancing early diagnosis and achieving optimal outcomes.
    MeSH term(s) Angiotensin-Converting Enzyme Inhibitors/therapeutic use ; Autoantigens/genetics ; Biopsy ; Collagen Type IV/genetics ; Disease Progression ; Early Diagnosis ; Early Medical Intervention ; Genetic Testing ; Genotype ; Glomerular Filtration Rate ; Hematuria ; Humans ; Kidney/pathology ; Kidney Failure, Chronic ; Nephritis, Hereditary/diagnosis ; Nephritis, Hereditary/genetics ; Nephritis, Hereditary/physiopathology ; Nephritis, Hereditary/therapy ; Phenotype
    Chemical Substances Angiotensin-Converting Enzyme Inhibitors ; Autoantigens ; COL4A4 protein, human ; COL4A5 protein, human ; Collagen Type IV ; type IV collagen alpha3 chain
    Language English
    Publishing date 2020-07-22
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 604539-x
    ISSN 1523-6838 ; 0272-6386
    ISSN (online) 1523-6838
    ISSN 0272-6386
    DOI 10.1053/j.ajkd.2020.03.026
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    Zs.A 1669: Show issues Location:
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    Zs.MO 468: Show issues

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  4. Article ; Online: Correction to: Clinical practice recommendations for the diagnosis and management of Alport syndrome in children, adolescents, and young adults-an update for 2020.

    Kashtan, Clifford E / Gross, Oliver

    Pediatric nephrology (Berlin, Germany)

    2021  Volume 36, Issue 3, Page(s) 731

    Language English
    Publishing date 2021-01-12
    Publishing country Germany
    Document type Published Erratum
    ZDB-ID 631932-4
    ISSN 1432-198X ; 0931-041X
    ISSN (online) 1432-198X
    ISSN 0931-041X
    DOI 10.1007/s00467-020-04892-x
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  5. Article ; Online: Response to: Diagnosis of Alport syndrome, is there a role for skin biopsy?

    Kashtan, Clifford E / Gross, Oliver

    Pediatric nephrology (Berlin, Germany)

    2021  Volume 36, Issue 4, Page(s) 1031

    MeSH term(s) Biopsy ; Collagen Type IV/genetics ; Humans ; Nephritis, Hereditary/diagnosis ; Nephritis, Hereditary/genetics
    Chemical Substances Collagen Type IV
    Language English
    Publishing date 2021-01-07
    Publishing country Germany
    Document type Letter ; Comment
    ZDB-ID 631932-4
    ISSN 1432-198X ; 0931-041X
    ISSN (online) 1432-198X
    ISSN 0931-041X
    DOI 10.1007/s00467-020-04872-1
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  6. Article: Renal transplantation in patients with Alport syndrome: patient selection, outcomes, and donor evaluation.

    Kashtan, Clifford E

    International journal of nephrology and renovascular disease

    2018  Volume 11, Page(s) 267–270

    Abstract: Alport syndrome is an inherited disorder of basement membrane collagen IV that frequently results in end-stage renal disease. Patients with Alport syndrome who undergo renal transplantation have generally excellent outcomes. Posttransplant antiglomerular ...

    Abstract Alport syndrome is an inherited disorder of basement membrane collagen IV that frequently results in end-stage renal disease. Patients with Alport syndrome who undergo renal transplantation have generally excellent outcomes. Posttransplant antiglomerular basement membrane nephritis is a rare complication of renal transplantation for Alport syndrome. Because Alport syndrome is a genetic disorder, potential related donors must be carefully evaluated in order to minimize harm.
    Language English
    Publishing date 2018-10-16
    Publishing country New Zealand
    Document type Journal Article ; Review
    ZDB-ID 2508160-3
    ISSN 1178-7058
    ISSN 1178-7058
    DOI 10.2147/IJNRD.S150539
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  7. Article ; Online: Clinical practice recommendations for the diagnosis and management of Alport syndrome in children, adolescents, and young adults-an update for 2020.

    Kashtan, Clifford E / Gross, Oliver

    Pediatric nephrology (Berlin, Germany)

    2020  Volume 36, Issue 3, Page(s) 711–719

    Abstract: In 2013, we published a set of clinical practice recommendations for the treatment of Alport syndrome in this journal. We recommended delaying the initiation of angiotensin-converting enzyme inhibition until the onset of overt proteinuria or, in some ... ...

    Abstract In 2013, we published a set of clinical practice recommendations for the treatment of Alport syndrome in this journal. We recommended delaying the initiation of angiotensin-converting enzyme inhibition until the onset of overt proteinuria or, in some cases, microalbuminuria. Developments that have occurred over the past 7 years have prompted us to revise these recommendations. We now recommend the initiation of treatment at the time of diagnosis in males with X-linked Alport syndrome and in males and females with autosomal recessive Alport syndrome. We further recommend starting treatment at the onset of microalbuminuria in females with X-linked Alport syndrome and in males and females with autosomal dominant Alport syndrome. This article presents the rationale for these revisions as well as recommendations for diagnostic tactics intended to ensure the early diagnosis of Alport syndrome.
    MeSH term(s) Adolescent ; Albuminuria ; Child ; Collagen Type IV/genetics ; Humans ; Nephritis, Hereditary/diagnosis ; Nephritis, Hereditary/genetics ; Nephritis, Hereditary/therapy ; Proteinuria ; Young Adult
    Chemical Substances Collagen Type IV
    Language English
    Publishing date 2020-11-06
    Publishing country Germany
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 631932-4
    ISSN 1432-198X ; 0931-041X
    ISSN (online) 1432-198X
    ISSN 0931-041X
    DOI 10.1007/s00467-020-04819-6
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  8. Article ; Online: BK nephropathy with glomerular involvement.

    Ravindran, Aishwarya / Kashtan, Clifford E / Sethi, Sanjeev

    Kidney international

    2018  Volume 94, Issue 2, Page(s) 432

    MeSH term(s) Adolescent ; Allografts/diagnostic imaging ; Allografts/pathology ; Allografts/virology ; BK Virus/isolation & purification ; Biopsy ; Bowman Capsule/pathology ; Bowman Capsule/virology ; Humans ; Kidney Diseases/surgery ; Kidney Transplantation/adverse effects ; Microscopy, Electron ; Podocytes/pathology ; Podocytes/ultrastructure ; Podocytes/virology ; Polyomavirus Infections/blood ; Polyomavirus Infections/pathology ; Polyomavirus Infections/virology ; Tumor Virus Infections/blood ; Tumor Virus Infections/pathology ; Tumor Virus Infections/virology ; Viremia/diagnostic imaging ; Viremia/pathology ; Viremia/virology
    Language English
    Publishing date 2018-07-18
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 120573-0
    ISSN 1523-1755 ; 0085-2538
    ISSN (online) 1523-1755
    ISSN 0085-2538
    DOI 10.1016/j.kint.2018.01.007
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  9. Article ; Online: Women with Alport syndrome: risks and rewards of kidney donation.

    Kashtan, Clifford E

    Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association

    2009  Volume 24, Issue 5, Page(s) 1369–1370

    MeSH term(s) Female ; Heterozygote ; Humans ; Kidney Failure, Chronic/etiology ; Kidney Transplantation/psychology ; Living Donors/psychology ; Mother-Child Relations ; Nephrectomy/adverse effects ; Nephritis, Hereditary/genetics ; Nephritis, Hereditary/surgery ; Proteinuria/complications ; Proteinuria/etiology ; Risk Factors
    Language English
    Publishing date 2009-05
    Publishing country England
    Document type Comment ; Editorial
    ZDB-ID 90594-x
    ISSN 1460-2385 ; 0931-0509
    ISSN (online) 1460-2385
    ISSN 0931-0509
    DOI 10.1093/ndt/gfn779
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    Zs.MO 329: Show issues

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  10. Article ; Online: The wages of thin.

    Kashtan, Clifford E

    Journal of the American Society of Nephrology : JASN

    2007  Volume 18, Issue 11, Page(s) 2800–2802

    MeSH term(s) Collagen Type IV/genetics ; Glomerular Basement Membrane/pathology ; Glomerulosclerosis, Focal Segmental/genetics ; Hematuria/genetics ; Hematuria/pathology ; Humans
    Chemical Substances Collagen Type IV
    Language English
    Publishing date 2007-11
    Publishing country United States
    Document type Comment ; Editorial
    ZDB-ID 1085942-1
    ISSN 1533-3450 ; 1046-6673
    ISSN (online) 1533-3450
    ISSN 1046-6673
    DOI 10.1681/ASN.2007091004
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