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High proportion of novel mutations in patients with Alport syndrome

J Höfele, S Weber, S Rath, I Rost, HG Klein · Klinische Pädiatrie · 2011 · Heft 03

Dokument
1016391
CareLit-ID
Jahr
2011
Publikation
PDF
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Metadaten
DOI
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Bibliografische Angaben

Zeitschrift
Klinische Pädiatrie
Autor:innen
J Höfele, S Weber, S Rath, I Rost, HG Klein
Ausgabe
Heft 03 / 2011
Seiten
–
Erschienen: 2011-03-23 00:00:00
ISSN
0300-8630
DOI
10.1055/s-0031-1273864

Zusammenfassung

Alport syndrome (AS) is characterized by ultrastructural abnormalities of the glomerular basement membrane (GBR) with progression to end-stage renal disease (ESRD), eye abnormalities and high-tone sensorineural deafness [1]. Mutations in COL4A3 and COL4A4 genes can be associated with an autosomal recessive or dominant type, whereas mutations in COL4A5 cause X-linked AS. The X-linked form predominantly affects male individuals, female patients have mild symptoms [2]. In comparison to AS, the autosomal dominant inherited thin basement membrane nephropathy (TBMN) is characterized by persistent glomerular hematuria,…

Schlagworte

Alport syndrome mutational analysis thin basement nephropathy Basement Membrane Eye Abnormalities Population Klinische Pädiatrie