Genetic features and kidney morphological changes in women with X-linked Alport syndrome

X-linked Alport syndrome (XLAS) is an hereditary kidney disease caused by the pathogenic variants in COL4A5 gene and usually has heterogeneous phenotypes, especially in females. Here, we collected the genetic, clinical, and pathological data from a cohort of XLAS and conducted a comparative analysis of female and male patients. We found a higher incidence of de novo variants in females compared to males, and co-inherited podocyte-related genes were also present in some females. In addition, we explored the association between the degree of glomerular basement membrane lesions and the decline in kidney function, showing its value in assessing the prognosis of XLAS. (By Professor Zhi-Hong Liu, https://jmg.bmj.com/content/early/2023/05/24/jmg-2023-109221 )

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