Medullary Cystic Kidney Disease and Focal Segmental Glomerulosclerosis Caused by a Compound Heterozygous Mutation in TTC21B
| Autor: | Hibino, Satoshi, Morisada, Naoya, Takeda, Asami, Tanaka, Kazuki, Nozu, Kandai, Yamakawa, Satoshi, Iijima, Kazumoto, Fujita, Naoya |
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| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
focal segmental glomerulosclerosis
Male Polycystic Kidney Diseases polycystic kidney disease end-stage renal disease Adolescent TTC21B Glomerulosclerosis Focal Segmental Infant Newborn Mutation Missense Infant Case Report Japan Child Preschool Humans Kidney Failure Chronic Child Microtubule-Associated Proteins |
| Zdroj: | Internal Medicine |
| ISSN: | 1349-7235 0918-2918 |
| Popis: | 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 glomerulosclerosis. Next-generation sequencing detected a new compound heterozygous missense mutation in the TTC21B gene. His renal pathological findings and gene mutations have not been previously reported in patients with ciliopathy. For children with severe renal dysfunction, mutations in the TTC21B gene cause both ciliopathy characterized by bilateral polycystic kidney disease and primary focal segmental glomerulosclerosis. |
| Databáze: | OpenAIRE |
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