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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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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:
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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author Hibino, Satoshi
Morisada, Naoya
Takeda, Asami
Tanaka, Kazuki
Nozu, Kandai
Yamakawa, Satoshi
Iijima, Kazumoto
Fujita, Naoya
author_facet Hibino, Satoshi
Morisada, Naoya
Takeda, Asami
Tanaka, Kazuki
Nozu, Kandai
Yamakawa, Satoshi
Iijima, Kazumoto
Fujita, Naoya
author_sort Hibino, Satoshi
collection PubMed
description 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.
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spelling pubmed-74345382020-08-27 Medullary Cystic Kidney Disease and Focal Segmental Glomerulosclerosis Caused by a Compound Heterozygous Mutation in TTC21B Hibino, Satoshi Morisada, Naoya Takeda, Asami Tanaka, Kazuki Nozu, Kandai Yamakawa, Satoshi Iijima, Kazumoto Fujita, Naoya Intern Med Case Report 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. The Japanese Society of Internal Medicine 2020-04-02 2020-07-15 /pmc/articles/PMC7434538/ /pubmed/32238723 http://dx.doi.org/10.2169/internalmedicine.4266-19 Text en Copyright © 2020 by The Japanese Society of Internal Medicine https://creativecommons.org/licenses/by-nc-nd/4.0/ The Internal Medicine is an Open Access journal distributed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. To view the details of this license, please visit (https://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Hibino, Satoshi
Morisada, Naoya
Takeda, Asami
Tanaka, Kazuki
Nozu, Kandai
Yamakawa, Satoshi
Iijima, Kazumoto
Fujita, Naoya
Medullary Cystic Kidney Disease and Focal Segmental Glomerulosclerosis Caused by a Compound Heterozygous Mutation in TTC21B
title Medullary Cystic Kidney Disease and Focal Segmental Glomerulosclerosis Caused by a Compound Heterozygous Mutation in TTC21B
title_full Medullary Cystic Kidney Disease and Focal Segmental Glomerulosclerosis Caused by a Compound Heterozygous Mutation in TTC21B
title_fullStr Medullary Cystic Kidney Disease and Focal Segmental Glomerulosclerosis Caused by a Compound Heterozygous Mutation in TTC21B
title_full_unstemmed Medullary Cystic Kidney Disease and Focal Segmental Glomerulosclerosis Caused by a Compound Heterozygous Mutation in TTC21B
title_short Medullary Cystic Kidney Disease and Focal Segmental Glomerulosclerosis Caused by a Compound Heterozygous Mutation in TTC21B
title_sort medullary cystic kidney disease and focal segmental glomerulosclerosis caused by a compound heterozygous mutation in ttc21b
topic Case Report
url 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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