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Alport syndrome is an inherited disease characterized by hematuria, progressive kidney failure, hearing loss, and fleck retinopathy. X-linked Alport syndrome affects about one in 2000 individuals (Gibson 2021, PMID:34400539) and is the second commonest genetic cause of kidney failure. Alport syndrome with diffuse leiomyomatosis (soft tissue tumors) is very rare affecting fewer than 1% of all cases of X-linked disease.

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Leiomyomatosis, Diffuse, with Alport Syndrome (DL-ATS)

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  • 发表日期：

    2025年

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  • Judy Savige

摘要

Alport syndrome is an inherited disease characterized by hematuria, progressive kidney failure, hearing loss, and fleck retinopathy. X-linked Alport syndrome affects about one in 2000 individuals (Gibson 2021, PMID:34400539) and is the second commonest genetic cause of kidney failure. Alport syndrome with diffuse leiomyomatosis (soft tissue tumors) is very rare affecting fewer than 1% of all cases of X-linked disease.