A Novel Mutation in a Japanese Family with X-linked Alport Syndrome

We herein report a novel mutation in a Japanese family with an X-linked Alport syndrome (AS) mutation in COL4A5. Patient 1 was a 2-year-old Japanese girl. She and her mother (patient 2) had a history of proteinuria and hematuria without renal dysfunction, deafness, or ocular abnormalities. Pathologi...

Descripción completa

Detalles Bibliográficos
Autores principales: Abe, Yoshifusa, Iyoda, Masayuki, Nozu, Kandai, Hibino, Satoshi, Hihara, Kei, Yamaguchi, Yutaka, Yamamura, Tomohiko, Minamikawa, Shogo, Iijima, Kazumoto, Shibata, Takanori, Itabashi, Kazuo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5088547/
https://www.ncbi.nlm.nih.gov/pubmed/27725546
Descripción
Sumario:We herein report a novel mutation in a Japanese family with an X-linked Alport syndrome (AS) mutation in COL4A5. Patient 1 was a 2-year-old Japanese girl. She and her mother (patient 2) had a history of proteinuria and hematuria without renal dysfunction, deafness, or ocular abnormalities. Pathological findings were consistent with AS, and a genetic analysis revealed that both patients had a heterozygous mutation (c.2767G>C) in exon 32. In summary, the identification of mutations and characteristic pathological findings was useful in making a diagnosis of AS. For a close long-term follow-up, the early detection and treatment of women with X-linked AS are important.

Ejemplares similares