Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome

Alport syndrome comprises a group of inherited heterogeneous disorders involving CKD, hearing loss, and ocular abnormalities. Autosomal dominant Alport syndrome caused by heterozygous mutations in collagen 4A3 and/or collagen 4A4 accounts for

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Veröffentlicht in:	Clinical journal of the American Society of Nephrology 2016-08, Vol.11 (8), p.1441-1449
Hauptverfasser:	Kamiyoshi, Naohiro, Nozu, Kandai, Fu, Xue Jun, Morisada, Naoya, Nozu, Yoshimi, Ye, Ming Juan, Imafuku, Aya, Miura, Kenichiro, Yamamura, Tomohiko, Minamikawa, Shogo, Shono, Akemi, Ninchoji, Takeshi, Morioka, Ichiro, Nakanishi, Koichi, Yoshikawa, Norishige, Kaito, Hiroshi, Iijima, Kazumoto
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Age of Onset Aged Aged, 80 and over Autoantigens - genetics Biopsy Child Child, Preschool Collagen Type IV - genetics DNA Mutational Analysis Female Genetic Testing Haplotypes Humans Kidney - pathology Kidney Failure, Chronic - genetics Male Middle Aged Mutation, Missense Nephritis, Hereditary - complications Nephritis, Hereditary - genetics Nephritis, Hereditary - pathology Original Pedigree Phenotype Proteinuria - etiology Retrospective Studies Young Adult
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Beschreibung
Zusammenfassung:	Alport syndrome comprises a group of inherited heterogeneous disorders involving CKD, hearing loss, and ocular abnormalities. Autosomal dominant Alport syndrome caused by heterozygous mutations in collagen 4A3 and/or collagen 4A4 accounts for
ISSN:	1555-9041 1555-905X
DOI:	10.2215/CJN.01000116