Medullary Cystic Kidney Disease and Focal Segmental Glomerulosclerosis Caused by a Compound Heterozygous Mutation in TTC21B

Mutations in the TTC21B gene have been identified in patients with nephronophthisis and were recently found in some patients with focal segmental glomerulosclerosis. We herein report a Japanese boy with end-stage renal disease due to medullary polycystic kidney disease and primary focal segmental gl...

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Detalles Bibliográficos
Autores principales: Hibino, Satoshi, Morisada, Naoya, Takeda, Asami, Tanaka, Kazuki, Nozu, Kandai, Yamakawa, Satoshi, Iijima, Kazumoto, Fujita, Naoya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7434538/
https://www.ncbi.nlm.nih.gov/pubmed/32238723
http://dx.doi.org/10.2169/internalmedicine.4266-19

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