Autosomal dominant Alport syndrome due to a COL4A4 mutation with an additional ESPN variant detected by whole-exome analysis

Alport syndrome (AS) is a rare hereditary disease that presents with chronic kidney disease and sensorineural hearing loss, and is diagnosed by its clinical features, pathological features on renal tissue, and mode of inheritance. We report a woman in her 20 s who exhibited persistent haematuria wit...

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Bibliographic Details
Published in:CEN Case Rep
Main Authors: Izumi, Yuichiro, Hamaguchi, Ami, Miura, Rei, Nakagawa, Terumasa, Nakagawa, Miyuki, Saida, Ken, Miyake, Noriko, Nagayoshi, Yu, Kakizoe, Yutaka, Miyoshi, Taku, Kohda, Yukimasa, Misumi, Yohei, Matsumoto, Naomichi, Ando, Yukio, Mukoyama, Masashi
Format: Artigo
Language:Inglês
Published: Springer Singapore 2019
Subjects:
Case Report
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6990314/
https://ncbi.nlm.nih.gov/pubmed/31677115
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s13730-019-00429-w
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