Renal X-inactivation in female individuals with X-linked Alport syndrome primarily determined by age

X-linked Alport syndrome (AS) caused by hemizygous disease-causing variants in COL4A5 primarily affects males. Females with a heterozygous state show a diverse phenotypic spectrum ranging from microscopic hematuria to end-stage kidney disease (ESKD) and extrarenal manifestations. In other X-linked d...

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Principais autores:	Roman Günthner, Lea Knipping, Stefanie Jeruschke, Robin Satanoskij, Bettina Lorenz-Depiereux, Clara Hemmer, Matthias C. Braunisch, Korbinian M. Riedhammer, Jasmina Ćomić, Burkhard Tönshoff, Velibor Tasic, Nora Abazi-Emini, Valbona Nushi-Stavileci, Karin Buiting, Nikola Gjorgjievski, Ana Momirovska, Ludwig Patzer, Martin Kirschstein, Oliver Gross, Adrian Lungu, Stefanie Weber, Lutz Renders, Uwe Heemann, Thomas Meitinger, Anja K. Büscher, Julia Hoefele
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Frontiers Media S.A. 2022-10-01
coleção:	Frontiers in Medicine
Assuntos:	Alport syndrome X-inactivation COL4A5 urine-derived cells microscopic hematuria proteinuria
Acesso em linha:	https://www.frontiersin.org/articles/10.3389/fmed.2022.953643/full
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