{
  "schemaVersion": 2,
  "eyebrow": "Nephrology",
  "title": "Alport Syndrome",
  "summary": "Confirm suspected Alport syndrome with COL4A3, COL4A4, and COL4A5 testing, define inheritance and renal risk, initiate renin-angiotensin system blockade when indicated, and identify relatives requiring surveillance before proteinuria and progressive kidney dysfunction develop.",
  "seoDescription": "Physician guide to genetic diagnosis, renal-risk stratification, RAAS blockade, surveillance, and family evaluation in Alport syndrome.",
  "clinicalQuestion": "How should physicians diagnose, risk-stratify, treat, and screen families affected by Alport syndrome?",
  "specialty": "Nephrology",
  "audience": "U.S. physicians and medical trainees",
  "tags": [
    "Alport syndrome",
    "COL4A3",
    "COL4A4",
    "COL4A5",
    "glomerular hematuria",
    "proteinuria",
    "genetic kidney disease",
    "RAAS blockade"
  ],
  "keyTakeaways": [
    "Order molecular testing for COL4A3, COL4A4, and COL4A5 in persistent glomerular hematuria, particularly with family kidney disease, hearing loss, or characteristic ocular findings; a negative pedigree does not exclude Alport syndrome. [10][17]",
    "Use the molecular result to establish the diagnosis, determine X-linked, autosomal recessive, autosomal dominant, or digenic inheritance, and direct cascade testing. [2][17][18]",
    "Proteinuria marks progressive renal disease; RAAS blockade is established management, and ramipril delayed proteinuria onset in a prospective pediatric trial. [2][10][12]",
    "Males with X-linked disease and patients of either sex with autosomal recessive disease generally have greater kidney-failure risk than females with X-linked disease or individuals with autosomal dominant disease. [4][18]",
    "Do not dismiss monoallelic pathogenic or likely pathogenic COL4A3/COL4A4 findings as benign familial hematuria: CKD, focal segmental glomerulosclerosis, and kidney failure can occur, although absolute kidney-failure risk remains uncertain. [11][19]"
  ],
  "sections": [
    {
      "id": "when-to-suspect-and-test",
      "eyebrow": "Diagnosis",
      "heading": "When persistent glomerular hematuria warrants collagen IV testing",
      "intro": "Treat persistent glomerular hematuria as a genetic-kidney-disease signal when the phenotype or family history is compatible.",
      "paragraphs": [
        "Order a molecular panel that includes COL4A3, COL4A4, and COL4A5 for persistent glomerular hematuria with any of the following: a family history of hematuria, CKD, kidney failure, sensorineural hearing loss, anterior lenticonus, or maculopathy. Absence of hearing, ocular, or family-history clues does not exclude a collagen IV disorder and should not defer testing when isolated glomerular hematuria persists. [10][17]",
        "A pathogenic variant or variants in COL4A3, COL4A4, or COL4A5 in a patient with suggestive findings establishes a molecular diagnosis. A multigene kidney-disease panel is preferable when the phenotype is not definitive because it simultaneously evaluates the three collagen IV genes and competing inherited causes of glomerular hematuria. [17]",
        "Use kidney biopsy selectively rather than as the default confirmation test. Electron microscopy and collagen IV alpha-chain immunostaining can support diagnosis when genetic testing is unavailable or uninformative; skin alpha5(IV) immunostaining is an additional option in selected X-linked cases. Biopsy remains particularly useful when the clinical course suggests a superimposed glomerular disease. [10][17][19]"
      ],
      "bullets": [
        "Document urinalysis, albuminuria or proteinuria, blood pressure, serum creatinine with estimated GFR, and pedigree before counseling on inheritance and renal trajectory. Progressive disease characteristically evolves from microhematuria to proteinuria and then declining kidney function. [2][18]",
        "Obtain formal audiologic and ophthalmologic evaluation when Alport syndrome is diagnosed or strongly suspected; bilateral high-frequency sensorineural hearing loss, anterior lenticonus, and perimacular flecks increase phenotypic confidence. [2][3][10]"
      ],
      "subsections": [],
      "table": {
        "caption": "Diagnostic pathways for suspected Alport syndrome. [10][17][19]",
        "columns": [
          "Clinical scenario",
          "Next diagnostic action",
          "Interpretation and consequence"
        ],
        "rows": [
          [
            "Persistent glomerular hematuria with kidney-disease pedigree, hearing loss, or ocular findings",
            "Order molecular testing including COL4A3, COL4A4, and COL4A5. [10][17]",
            "A pathogenic variant in a compatible phenotype establishes molecular diagnosis and enables inheritance-based counseling and cascade testing. [17][18]"
          ],
          [
            "Persistent isolated glomerular hematuria without family history or extrarenal features",
            "Still obtain collagen IV genetic testing when suspicion persists. [10]",
            "Negative family history and absent extrarenal manifestations do not exclude Alport syndrome. [10]"
          ],
          [
            "Genetic testing unavailable or uninformative",
            "Consider kidney biopsy with electron microscopy and collagen IV alpha-chain immunostaining; consider skin alpha5(IV) staining in selected X-linked cases. [10][17]",
            "Histology may support the diagnosis but can be ambiguous in phenotypically heterogeneous collagen IV disease. [10]"
          ],
          [
            "Monoallelic pathogenic or likely pathogenic COL4A3/COL4A4 variant with atypical proteinuria, CKD, or active urinary findings",
            "Consider kidney biopsy to assess for a coexisting glomerular process. [19]",
            "FSGS, CKD, and kidney failure may segregate with monoallelic variants, but another renal diagnosis can coexist. [11][19]"
          ]
        ]
      }
    },
    {
      "id": "genotype-and-risk",
      "eyebrow": "Risk stratification",
      "heading": "Use inheritance pattern to frame renal prognosis and family risk",
      "intro": "Gene, zygosity, inheritance, sex, and variant type are the principal available prognostic discriminators.",
      "paragraphs": [
        "Classify disease as X-linked COL4A5-related, autosomal recessive biallelic COL4A3/COL4A4-related, autosomal dominant monoallelic COL4A3/COL4A4-related, or digenic disease. For double heterozygous COL4A3/COL4A4 variants, determine whether variants are in cis or in trans: cis inheritance behaves as autosomal dominant, whereas trans inheritance is autosomal recessive. [2][3][4]",
        "Counsel males with X-linked Alport syndrome and males and females with autosomal recessive disease that untreated renal disease commonly progresses through proteinuria and renal insufficiency to ESKD. Females with X-linked disease and individuals with autosomal dominant disease have more variable courses, with kidney failure often delayed into later adulthood; hearing loss is relatively later and ocular involvement less common in these groups. [4][18]",
        "Interpret monoallelic COL4A3/COL4A4 results in the clinical context. Labels including thin basement membrane nephropathy, autosomal dominant Alport syndrome, type IV collagen-associated kidney disease, and Alport spectrum nephropathy have been used; the absolute risk of kidney failure from a heterozygous pathogenic or likely pathogenic autosomal variant remains poorly defined. [11][19]"
      ],
      "bullets": [
        "A COL4A5 pathogenic variant in a mother confers a 50% transmission probability in each pregnancy. [18]",
        "When both parents carry a heterozygous pathogenic COL4A3 or COL4A4 variant causing autosomal recessive disease, each pregnancy has a 25% probability of biallelic disease, 50% probability of heterozygosity, and 25% probability of neither familial variant. [18]",
        "Variant type modifies prognosis; protein-truncating variants are associated with more severe disease in autosomal recessive disease and in males with X-linked disease. [4]"
      ],
      "subsections": [],
      "table": {
        "caption": "Inheritance-based clinical framing in Alport syndrome. [2][4][18]",
        "columns": [
          "Molecular category",
          "Expected phenotype pattern",
          "Clinical action"
        ],
        "rows": [
          [
            "X-linked COL4A5 disease",
            "Males generally have more severe renal disease; females have variable expression and later kidney failure more often. [4][18]",
            "Assess renal trajectory and proteinuria early; test at-risk relatives and provide X-linked reproductive counseling. [17][18]"
          ],
          [
            "Autosomal recessive COL4A3/COL4A4 disease",
            "Males and females are at high risk for progressive renal disease and ESKD without treatment. [18]",
            "Identify biallelic disease promptly, treat renal manifestations, and test siblings and parents for familial variants. [17][18]"
          ],
          [
            "Monoallelic COL4A3/COL4A4 disease",
            "Phenotype ranges from hematuria to CKD, FSGS, and kidney failure; absolute kidney-failure risk is uncertain. [11][19]",
            "Follow urine albumin, blood pressure, and kidney function; investigate discordant or accelerated disease for coexisting pathology. [19]"
          ],
          [
            "Digenic COL4A3/COL4A4 variants",
            "Trans configuration is autosomal recessive; cis configuration is autosomal dominant. [2]",
            "Establish phase when possible because inheritance classification changes family counseling and risk assessment. [2]"
          ]
        ]
      }
    },
    {
      "id": "renal-management",
      "eyebrow": "Treatment",
      "heading": "Treat progressive renal disease before loss of GFR",
      "intro": "Proteinuria and hypertension should trigger antiproteinuric CKD management rather than observation alone.",
      "paragraphs": [
        "Use an ACE inhibitor or ARB to reduce proteinuria and manage hypertension in proteinuric Alport syndrome; RAAS blockade is established standard management. In a prospective pediatric trial, ramipril delayed onset of proteinuria, an early marker of progressive kidney disease. [2][10][12][20]",
        "For a heterozygous pathogenic or likely pathogenic COL4A3/COL4A4 variant, initiate RAAS blockade when albuminuria or additional risk factors for progression are present. Do not use the historically reassuring label “benign familial hematuria” to substitute for surveillance of albuminuria, blood pressure, and kidney function. [2][11][19]",
        "Monitor serial urine albumin or protein excretion, blood pressure, serum creatinine, and estimated GFR after RAAS-blockade initiation and during dose adjustment. If kidney function progresses to kidney failure, plan dialysis or kidney transplantation; many affected patients ultimately require kidney replacement therapy despite delayed progression with current measures. [20]"
      ],
      "bullets": [
        "Do not combine an ACE inhibitor and ARB routinely on the basis of the limited Alport-specific evidence summarized here; current established therapy is RAAS blockade, not dual RAAS blockade. [2][12][20]",
        "SGLT2 inhibition is under prospective study in young patients with Alport syndrome; trial development should not be interpreted as established Alport-specific efficacy. [15]",
        "Sparsentan has shown renal and hearing benefits versus an ARB in an Alport mouse model, but this is preclinical evidence rather than a clinical treatment recommendation. [13]"
      ],
      "subsections": [
        {
          "heading": "When proteinuria is absent",
          "paragraphs": [
            "Continue structured surveillance because microhematuria may precede proteinuria and progressive kidney dysfunction. In patients at genetic risk whose familial variant is unknown, evaluate with urinalysis and blood-pressure measurement; use molecular testing when the familial pathogenic variant is known. [18]"
          ],
          "bullets": []
        }
      ],
      "table": {
        "caption": "Renal management decisions in Alport syndrome. [2][10][12][18][20]",
        "columns": [
          "Finding",
          "Action",
          "Monitoring or escalation"
        ],
        "rows": [
          [
            "Proteinuria with Alport syndrome",
            "Start RAAS blockade with an ACE inhibitor or ARB. [2][12][20]",
            "Follow blood pressure, urinary protein or albumin, serum creatinine, and estimated GFR. [20]"
          ],
          [
            "Child with early Alport disease",
            "Consider ramipril as the ACE inhibitor supported by prospective evidence for delaying proteinuria onset. [10]",
            "Track development of proteinuria as a marker of renal progression. [10]"
          ],
          [
            "Heterozygous pathogenic or likely pathogenic COL4A3/COL4A4 variant plus albuminuria or progression risk factors",
            "Use RAAS blockade. [2]",
            "Monitor for CKD progression and reassess for another glomerular diagnosis if the phenotype is atypical. [19]"
          ],
          [
            "Progressive kidney failure",
            "Prepare for dialysis or kidney transplantation. [20]",
            "Coordinate kidney-failure planning while continuing family genetic evaluation. [17][20]"
          ]
        ]
      }
    },
    {
      "id": "extrarenal-and-family-care",
      "eyebrow": "Longitudinal care",
      "heading": "Screen hearing, vision, and relatives as part of renal management",
      "intro": "Extrarenal assessment improves phenotypic definition, while cascade testing enables earlier renal surveillance and intervention.",
      "paragraphs": [
        "Arrange audiology and ophthalmology assessment because bilateral high-frequency sensorineural hearing loss, anterior lenticonus, and perimacular flecks are clinically informative manifestations of collagen IV disease. Their presence supports the diagnosis, but their absence does not rule it out. [2][3][10]",
        "Offer targeted molecular testing to at-risk relatives when the familial pathogenic variant is known. If it is not known, use urinalysis and blood-pressure evaluation to identify relatives requiring further assessment. Earlier identification is intended to permit surveillance and timely intervention before proteinuria and progressive renal disease emerge. [17][18]",
        "Refer affected individuals and families for genetic counseling after a pathogenic result. Counseling should cover inheritance pattern, reproductive transmission risk, variable expression in females with X-linked disease and monoallelic autosomal disease, and the implications of testing relatives who may have isolated hematuria. [2][17][18]"
      ],
      "bullets": [
        "Evaluate potential kidney donors within affected families with molecular testing when a familial pathogenic variant is known. [17]",
        "Include nephrology, genetics, audiology or otolaryngology, and ophthalmology according to renal stage and manifestations. [20]",
        "When kidney biopsy is performed for suspected superimposed disease in a monoallelic COL4A3/COL4A4 carrier, integrate pathology with the genetic result rather than assuming all proteinuria reflects collagen IV disease. [19]"
      ],
      "subsections": [],
      "table": {
        "caption": "Family evaluation and extrarenal care. [2][17][18][20]",
        "columns": [
          "Clinical task",
          "Preferred action",
          "Reason for action"
        ],
        "rows": [
          [
            "Known familial pathogenic variant",
            "Offer targeted molecular testing to at-risk relatives. [17][18]",
            "Identifies relatives who need surveillance and early renal intervention. [17]"
          ],
          [
            "Familial variant not established",
            "Perform urinalysis and blood-pressure assessment in at-risk relatives. [18]",
            "Detects renal manifestations requiring genetic evaluation or nephrology follow-up. [18]"
          ],
          [
            "Auditory phenotype",
            "Obtain formal audiologic assessment. [2][10]",
            "High-frequency sensorineural hearing loss is a recognized Alport manifestation. [2]"
          ],
          [
            "Ocular phenotype",
            "Obtain ophthalmologic evaluation for anterior lenticonus and macular abnormalities. [2][10]",
            "Characteristic eye findings refine the clinical phenotype. [2][10]"
          ]
        ]
      }
    }
  ],
  "faq": [],
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    {
      "number": 3,
      "title": "Alport Syndrome",
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      "host": "www.sciencedirect.com",
      "snippet": "Alport syndrome (AS) is characterized by progressive kidney failure, hematuria, sensorineural hearing loss, and ocular abnormalities. Pathogenic variants in the _COL4A3-5_ genes result in a defective deposition of the collagen IV α3α4α5 protomers in the basement membranes of the glomerulus in the ki",
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    {
      "number": 4,
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      "score": 0.709684
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    {
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      "snippet": "A review of clinical characteristics and genetic backgrounds in Alport syndrome.",
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      "snippet": "by J Savige · 2013 · Cited by 511 — The recommendations include the use of genetic testing as the gold standard for the diagnosis of Alport syndrome and the demonstra- tion of its mode of",
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      "title": "A COL4A4-G394S Variant and Impaired Collagen IV...",
      "detail": "journals.lww.com",
      "url": "https://journals.lww.com/kidney360/fulltext/2022/11000/a_col4a4_g394s_variant_and_impaired_collagen_iv.13.aspx",
      "authors": "journals.lww.com",
      "host": "journals.lww.com",
      "snippet": "by J Kohler · 2022 · Cited by 6 — Alport syndrome is an inherited kidney disorder characterized by hematuria, proteinuria, and progressive kidney failure, and hearing loss and",
      "score": 0.5060794
    },
    {
      "number": 9,
      "title": "Ocular Manifestations and Potential Treatments of Alport ...",
      "detail": "onlinelibrary.wiley.com",
      "url": "https://onlinelibrary.wiley.com/doi/10.1155/2022/9250367",
      "authors": "onlinelibrary.wiley.com",
      "host": "onlinelibrary.wiley.com",
      "snippet": "This systematic review aims to summarize the common ocular abnormalities in patients with AS and to explore the potential treatment options for",
      "score": 0.4413124
    },
    {
      "number": 10,
      "title": "Genetic testing and glomerular hematuria—A nephrologist's perspective - Kashtan - 2022 - American Journal of Medical Genetics Part C: Seminars in Medical Genetics - Wiley Online Library",
      "detail": "onlinelibrary.wiley.com",
      "url": "https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.c.31987",
      "authors": "onlinelibrary.wiley.com",
      "host": "onlinelibrary.wiley.com",
      "snippet": "A recent prospective trial of children with Alport syndrome showed that ramipril therapy delayed the onset of proteinuria, the earliest sign of progressive kidney disease in Alport patients (Gross et al., 2020). The introduction of next-generation sequencing methods (Fallerini et al., 2014; Morinièr",
      "score": 0.87166095
    },
    {
      "number": 11,
      "title": "Diagnosis, management and treatment of the Alport syndrome – 2024 guideline on behalf of ERKNet, ERA and ESPN | Nephrology Dialysis Transplantation | Oxford Academic",
      "detail": "academic.oup.com",
      "url": "https://academic.oup.com/ndt/article/40/6/1091/7915083",
      "authors": "academic.oup.com",
      "host": "academic.oup.com",
      "snippet": "* Q8: GIVEN THE RELATIVELY HIGH FREQUENCY OF INDIVIDUALS WITH HETEROZYGOUS *COL4A3/4* VARIANTS IN THE GENERAL POPULATION AND THEIR POTENTIALLY DETERIORATING EFFECT ON THE PHENOTYPE, SHOULD PATIENTS WITH PATHOGENIC *COL4A3/4* VARIANTS BE SCREENED FOR OTHER KIDNEY DISEASES IN THE CLINICAL PRACTICE? Wh",
      "score": 0.7197191
    },
    {
      "number": 12,
      "title": "Study Design and Baseline Characteristics of the... : American Journal of Nephrology",
      "detail": "journals.lww.com",
      "url": "https://journals.lww.com/00078825-202103000-00003",
      "authors": "journals.lww.com",
      "host": "journals.lww.com",
      "snippet": "Patients with Alport syndrome who met the inclusion and exclusion criteria were randomized 1:1 to receive either bardoxolone methyl or placebo. Randomization was stratified by baseline UACR (≤300 mg/g, 300 to ≤1,000 mg/g, and 1,000 to ≤3,500 mg/g). Patients randomized to placebo remained on placebo ",
      "score": 0.55420566
    },
    {
      "number": 13,
      "title": "Dual inhibition of the endothelin and angiotensin... : The Journal of Pathology",
      "detail": "journals.lww.com",
      "url": "https://journals.lww.com/01445513-202306000-00010",
      "authors": "journals.lww.com",
      "host": "journals.lww.com",
      "snippet": "In summary, our study demonstrates that dual ETAR/AT1R antagonism with sparsentan in the AS mouse model shows two significant advantages over treatment with an ARB alone. First, it significantly improved renal function and lifespan even when treatment was started in animals with established proteinu",
      "score": 0.37394494
    },
    {
      "number": 14,
      "title": "623 SGLT2 inhibitors in adult patients with Alport syndrome",
      "detail": "academic.oup.com",
      "url": "https://academic.oup.com/ndt/article-abstract/40/Supplement_3/gfaf116.011/8294644",
      "authors": "academic.oup.com",
      "host": "academic.oup.com",
      "snippet": "Alport syndrome (AS) is the most common inherited glomerular disease, inherited glomerular disease, SGLT2 inhibitors (SGLT2i) has recently been",
      "score": 0.5180835
    },
    {
      "number": 15,
      "title": "Protocol and rationale for a randomized controlled SGLT2 ...",
      "detail": "academic.oup.com",
      "url": "https://academic.oup.com/ndt/article/40/4/679/7731148",
      "authors": "academic.oup.com",
      "host": "academic.oup.com",
      "snippet": "by O Gross · 2025 · Cited by 36 — DOUBLE PRO-TECT Alport trial (NCT05944016) will study the progression of albuminuria in young patients with Alport syndrome (AS), the most common hereditary",
      "score": 0.5134007
    },
    {
      "number": 16,
      "title": "KHI Innovation Conference Highlights Patient- Centered Care",
      "detail": "www.asn-online.org",
      "url": "https://www.asn-online.org/publications/kidneynews/archives/2026/KN_2026_07_jul.pdf",
      "authors": "www.asn-online.org",
      "host": "www.asn-online.org",
      "snippet": "diagnosed with Alport syndrome, a genetic disorder that causes kidney damage and other issues such as hearing loss. A couple of years later, when he",
      "score": 0.44391435
    },
    {
      "number": 17,
      "title": "Alport Syndrome - GeneReviews® - NCBI Bookshelf",
      "detail": "www.ncbi.nlm.nih.gov",
      "url": "https://www.ncbi.nlm.nih.gov/books/n/gene/alport",
      "authors": "www.ncbi.nlm.nih.gov",
      "host": "www.ncbi.nlm.nih.gov",
      "snippet": "#### Diagnosis/testing.\n\nThe molecular diagnosis of Alport syndrome is established in a proband with suggestive findings and a pathogenic variant(s) in COL4A3, COL4A4, or COL4A5 identified by molecular genetic testing. Kidney biopsy, skin biopsy (in some individuals with XLAS), or clinical diagnosti",
      "score": 0.8627572
    },
    {
      "number": 18,
      "title": "Alport Syndrome - PubMed",
      "detail": "www.ncbi.nlm.nih.gov",
      "url": "http://www.ncbi.nlm.nih.gov/pubmed/20301386",
      "authors": "www.ncbi.nlm.nih.gov",
      "host": "www.ncbi.nlm.nih.gov",
      "snippet": "Title: Alport Syndrome - PubMed\n## Save citation to file. In the absence of treatment, kidney disease progresses from microhematuria to proteinuria, progressive kidney insufficiency, and end-stage kidney disease (ESKD) in most males with X-linked Alport syndrome (XLAS), and in most males and females",
      "score": 0.826278
    },
    {
      "number": 19,
      "title": "Diagnosis, management and treatment of the Alport syndrome – 2024 guideline on behalf of ERKNet, ERA and ESPN - PMC",
      "detail": "www.ncbi.nlm.nih.gov",
      "url": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12209846",
      "authors": "www.ncbi.nlm.nih.gov",
      "host": "www.ncbi.nlm.nih.gov",
      "snippet": "Title: Diagnosis, management and treatment of the Alport syndrome – 2024 guideline on behalf of ERKNet, ERA and ESPN - PMC\nWhile several studies have identified multigenerational families with clinically significant phenotypes such as focal segmental glomerulosclerosis, chronic kidney disease (CKD),",
      "score": 0.7610953
    },
    {
      "number": 20,
      "title": "Alport Syndrome - StatPearls - NCBI Bookshelf",
      "detail": "www.ncbi.nlm.nih.gov",
      "url": "https://www.ncbi.nlm.nih.gov/books/NBK470419",
      "authors": "www.ncbi.nlm.nih.gov",
      "host": "www.ncbi.nlm.nih.gov",
      "snippet": "## Treatment / Management\n\nUnfortunately, there is no specific treatment for Alport syndrome. Treatment is focused on limiting the progression of proteinuria and kidney disease. Options include angiotensin-converting enzyme inhibitors (ACEi) and angiotensin receptor blockers (ARBs) for managing prot",
      "score": 0.7253574
    },
    {
      "number": 21,
      "title": "[PDF] Kidney News - August 2019 - American Society of Nephrology",
      "detail": "www.asn-online.org",
      "url": "https://www.asn-online.org/publications/kidneynews/archives/2019/KN_2019_08_aug.pdf",
      "authors": "www.asn-online.org",
      "host": "www.asn-online.org",
      "snippet": "(0.66–0.97) 0.84 (0.72–0.98) 0.66 10 (0.53–0.81) 0.60 8 (0.47–0.77) 0.76 (0.67–0.87) 0.61 (0.53–0.70) ESKD / Need for Renal Replacement Therapy (RRT)/DSC All ARB 0.78 14 (0.67–0.91) All ACEi 0.60 14 (0.39–0.93) 0.68 10 (0.54–0.82) 0.76 (0.67–0.87) 0.45 (0.40–0.75) MACE 3 outcome (cardiovascular deat",
      "score": 0.293572
    },
    {
      "number": 22,
      "title": "Kidney News - August 2020",
      "detail": "www.asn-online.org",
      "url": "https://www.asn-online.org/publications/kidneynews/archives/2020/KN_2020_08_aug.pdf",
      "authors": "www.asn-online.org",
      "host": "www.asn-online.org",
      "snippet": "genetic disorders of collagen IV a345: a position paper of the Alport Syndrome Classification Working Group. Kidney Int. 2018;93(5):1045-1051. 8. Savige J, Gregory M, Gross O, Kashtan C, Ding J, Flinter F. Expert guidelines for the management of Alport syndrome and thin basement membrane nephropathy",
      "score": 0.28561646
    },
    {
      "number": 23,
      "title": "Update on Alport Syndrome: The Report of the 2024 ...",
      "detail": "www.sciencedirect.com",
      "url": "https://www.sciencedirect.com/science/article/pii/S2468024926000161",
      "authors": "www.sciencedirect.com",
      "host": "www.sciencedirect.com",
      "snippet": "Alport syndrome represents a clinically heterogeneous group of kidney, hearing, and eye phenotypes caused by variants in the collagen IV genes, COL4A3, COL4A4,",
      "score": 0.61168414
    },
    {
      "number": 24,
      "title": "Clinical and Genetic Features of Autosomal Dominant ...",
      "detail": "www.sciencedirect.com",
      "url": "https://www.sciencedirect.com/science/article/pii/S0272638621005059",
      "authors": "www.sciencedirect.com",
      "host": "www.sciencedirect.com",
      "snippet": "by M Furlano · 2021 · Cited by 142 — Alport syndrome is a common genetic kidney disease accounting for approximately 2% of patients receiving kidney replacement therapy (KRT).",
      "score": 0.5271467
    }
  ],
  "publishedAt": "2026-08-24T17:46:07.447235+00:00",
  "updatedAt": "2026-08-24T17:46:07.447235+00:00",
  "readingMinutes": 5,
  "slug": "alport-syndrome"
}