Article
Milder clinical aspects of X-linked Alport syndrome in men positive for the collagen IV α5 chain.
Kidney international - 1 May 2014
Hashimura Yuya, Nozu Kandai, Kaito Hiroshi, Nakanishi Koichi, Fu Xue Jun, Ohtsubo Hiromi, Hashimoto Fusako, Oka Masafumi, Ninchoji Takeshi, Ishimori Shingo, Morisada Naoya, Matsunoshita Natsuki, Kamiyoshi Naohiro, Yoshikawa Norishige, Iijima Kazumoto
Abstract excerpt
X-linked Alport syndrome is caused by mutations in the COL4A5 gene encoding the type IV collagen α5 chain (α5(IV)). Complete absence of α5(IV) in the renal basal membrane is considered a pathological characteristic in male patients; however, positive α5(IV) staining has been found in over 20% of patients. We retrospectively studied 52 genetically diagnosed male X-linked Alport syndrome patients to evaluate...
Topics
- Adolescent
- Age of Onset
- Biopsy
- Child
- Child, Preschool
- Collagen Type IV
- Disease Progression
- Exons
- Genetic Predisposition to Disease
- Glomerular Basement Membrane