Article
A review of clinical characteristics and genetic backgrounds in Alport syndrome.
Clinical and experimental nephrology - 1 Feb 2019
Nozu Kandai, Nakanishi Koichi, Abe Yoshifusa, Udagawa Tomohiro, Okada Shinichi, Okamoto Takayuki, Kaito Hiroshi, Kanemoto Katsuyoshi, Kobayashi Anna, Tanaka Eriko, Tanaka Kazuki, Hama Taketsugu, Fujimaru Rika, Miwa Saori, Yamamura Tomohiko, Yamamura Natsusmi, Horinouchi Tomoko, Minamikawa Shogo, Nagata Michio, Iijima Kazumoto
Abstract excerpt
Alport syndrome (AS) is a progressive hereditary renal disease that is characterized by sensorineural hearing loss and ocular abnormalities. It is divided into three modes of inheritance, namely, X-linked Alport syndrome (XLAS), autosomal recessive AS (ARAS), and autosomal dominant AS (ADAS). XLAS is caused by pathogenic variants in COL4A5, while ADAS and ARAS are caused by those in COL4A3/COL4A4. Diagnosis is...
Topics
- Adult
- Animals
- Autoantigens
- Collagen Type IV
- Female
- Genetic Association Studies
- Genetic Predisposition to Disease
- Heredity
- Humans