{
    "abstract": "Alport syndrome is characterized by kidney manifestations, sensorineural hearing loss (SNHL), and ocular manifestations. 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 with autosomal recessive Alport syndrome (ARAS). Progressive SNHL is usually present by late childhood or early adolescence. Ocular findings include anterior lenticonus (which is virtually pathognomonic), maculopathy (whitish or yellowish flecks or granulations in the perimacular region), corneal endothelial vesicles (posterior polymorphous dystrophy), and recurrent corneal erosion. In females with XLAS and individuals with autosomal dominant Alport syndrome (ADAS), ESKD is frequently delayed until later adulthood, SNHL is relatively late in onset, and ocular involvement is rare.\nThe molecular diagnosis of Alport syndrome is established in a proband with suggestive findings and a pathogenic variant(s) in ",
    "authors": [
        {
            "collective": null,
            "firstname": "Margaret P",
            "initials": "MP",
            "lastname": "Adam"
        },
        {
            "collective": null,
            "firstname": "Jerry",
            "initials": "J",
            "lastname": "Feldman"
        },
        {
            "collective": null,
            "firstname": "Ghayda M",
            "initials": "GM",
            "lastname": "Mirzaa"
        },
        {
            "collective": null,
            "firstname": "Roberta A",
            "initials": "RA",
            "lastname": "Pagon"
        },
        {
            "collective": null,
            "firstname": "Stephanie E",
            "initials": "SE",
            "lastname": "Wallace"
        },
        {
            "collective": null,
            "firstname": "Anne",
            "initials": "A",
            "lastname": "Amemiya"
        },
        {
            "collective": null,
            "firstname": "Kandai",
            "initials": "K",
            "lastname": "Nozu"
        },
        {
            "collective": null,
            "firstname": "Tomohiko",
            "initials": "T",
            "lastname": "Yamamura"
        },
        {
            "collective": null,
            "firstname": "Tomoko",
            "initials": "T",
            "lastname": "Horinouchi"
        }
    ],
    "copyrights": "Copyright \u00a9 1993-2025, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.",
    "doi": null,
    "isbn": null,
    "language": "eng",
    "publication_date": "1993",
    "publication_type": "Review",
    "publisher": "University of Washington, Seattle",
    "publisher_location": "Seattle (WA)",
    "pubmed_id": "8801045\n23732293\n29801666\n24033287\n34400539\n22166847\n7783412\n24304881\n29959198\n14514738\n10752524\n28959963\n36173685\n27281700\n32712016\n22461141\n33159213\n8801043\n15475791\n24854265\n11773466\n28275241\n30128941\n24633401\n30062677\n26656846\n25741868\n19474829\n34930753\n25649157\n27415407\n32596782\n24052634\n39134512\n39673454\n10200983\n32712167\n29270492\n31364286\n30577881\n33772369\n8356449\n29144512\n20301386",
    "sections": [
        {
            "chapter": null,
            "title": "Summary"
        },
        {
            "chapter": null,
            "title": "Diagnosis"
        },
        {
            "chapter": null,
            "title": "Clinical Characteristics"
        },
        {
            "chapter": null,
            "title": "Genetically Related (Allelic) Disorders"
        },
        {
            "chapter": null,
            "title": "Differential Diagnosis"
        },
        {
            "chapter": null,
            "title": "Management"
        },
        {
            "chapter": null,
            "title": "Genetic Counseling"
        },
        {
            "chapter": null,
            "title": "Resources"
        },
        {
            "chapter": null,
            "title": "Molecular Genetics"
        },
        {
            "chapter": null,
            "title": "Chapter Notes"
        },
        {
            "chapter": null,
            "title": "References"
        }
    ],
    "title": "GeneReviews"
}