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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Bibliographic Details
Published in:Internal Medicine 2020/07/15, Vol.59(14), pp.1735-1738
Main Authors: Hibino, Satoshi, Morisada, Naoya, Takeda, Asami, Tanaka, Kazuki, Nozu, Kandai, Yamakawa, Satoshi, Iijima, Kazumoto, Fujita, Naoya
Format: Article
Language:English
Subjects:
Case Report
End-stage renal disease
focal segmental glomerulosclerosis
Internal medicine
Kidney diseases
Missense mutation
Mutation
Nephronophthisis
Next-generation sequencing
Polycystic kidney
polycystic kidney disease
Renal function
TTC21B
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Summary: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.
ISSN:0918-2918
1349-7235
DOI:10.2169/internalmedicine.4266-19