Article
Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome.
Clinical journal of the American Society of Nephrology : CJASN - 8 Aug 2016
Kamiyoshi Naohiro, Nozu Kandai, Fu Xue Jun, Morisada Naoya, Nozu Yoshimi, Ye Ming Juan, Imafuku Aya, Miura Kenichiro, Yamamura Tomohiko, Minamikawa Shogo, Shono Akemi, Ninchoji Takeshi, Morioka Ichiro, Nakanishi Koichi, Yoshikawa Norishige, Kaito Hiroshi, Iijima Kazumoto
Abstract excerpt
BACKGROUND AND OBJECTIVES: Alport syndrome comprises a group of inherited heterogeneous disorders involving CKD, hearing loss, and ocular abnormalities. Autosomal dominant Alport syndrome caused by heterozygous mutations in collagen 4A3 and/or collagen 4A4 accounts for <5% of patients. However, the clinical, genetic, and pathologic backgrounds of patients with autosomal dominant Alport syndrome remain unclear....
Topics
- Adolescent
- Adult
- Age of Onset
- Aged
- Aged, 80 and over
- Autoantigens
- Biopsy
- Child
- Child, Preschool
- Collagen Type IV