Tubuloglomerular Disease With Cone-Shaped Epiphyses Associated With Hypomorphic Variant and a Novel p.Cys14Arg in the TTC21B Gene: A Case Report

Monogenic nephrotic syndrome (NS) is associated with a resistance to initial glucocorticoid therapy and causative variants, which may be found in several genes influencing podocyte stability and kidney development. The TTC21B gene, which encodes the retrograde intraflagellar transport protein IFT139...

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Autores principales:	Martin Bezdíčka, Dana Zemková, Sylva Skálová, Eva Hovorková, Miroslav Podhola, Jan Burkert, Jakub Zieg
Formato:	article
Lenguaje:	EN
Publicado:	Frontiers Media S.A. 2021
Materias:	cone-shaped epiphyses nephrotic syndrome TTC21B podocyte proteinuria case report Pediatrics RJ1-570
Acceso en línea:	https://doaj.org/article/76c93d0cacbe44bea1cd417d0d3b4726
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spelling	oai:doaj.org-article:76c93d0cacbe44bea1cd417d0d3b47262021-11-05T16:12:42ZTubuloglomerular Disease With Cone-Shaped Epiphyses Associated With Hypomorphic Variant and a Novel p.Cys14Arg in the TTC21B Gene: A Case Report2296-236010.3389/fped.2021.752878https://doaj.org/article/76c93d0cacbe44bea1cd417d0d3b47262021-11-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fped.2021.752878/fullhttps://doaj.org/toc/2296-2360Monogenic nephrotic syndrome (NS) is associated with a resistance to initial glucocorticoid therapy and causative variants, which may be found in several genes influencing podocyte stability and kidney development. The TTC21B gene, which encodes the retrograde intraflagellar transport protein IFT139, is found mostly in association with ciliopathies in humans. The role of this protein in podocyte cytoskeleton stability was confirmed later and the mutated TTC21B also may be associated with proteinuric diseases, such as nephrotic syndrome. Our patient manifested as an infant with brachydactyly, nephrotic-range proteinuria, and renal tubular acidosis, and a kidney biopsy revealed focal segmental glomerulosclerosis (FSGS). Multiple phalangeal cone-shaped epiphyses of the hand were seen on X-ray. Next-generation sequencing revealed the well-described p.Pro209Leu heterozygous variant and a novel heterozygous p.Cys14Arg variant in the TTC21B gene. Our finding confirmed that the causative variants in the TTC21B gene may contribute to a spectrum of clinical features, such as glomerular proteinuric disease with tubulointerstitial involvement and skeletal abnormalities.Martin BezdíčkaDana ZemkováSylva SkálováEva HovorkováMiroslav PodholaJan BurkertJakub ZiegFrontiers Media S.A.articlecone-shaped epiphysesnephrotic syndromeTTC21Bpodocyteproteinuriacase reportPediatricsRJ1-570ENFrontiers in Pediatrics, Vol 9 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	cone-shaped epiphyses nephrotic syndrome TTC21B podocyte proteinuria case report Pediatrics RJ1-570
spellingShingle	cone-shaped epiphyses nephrotic syndrome TTC21B podocyte proteinuria case report Pediatrics RJ1-570 Martin Bezdíčka Dana Zemková Sylva Skálová Eva Hovorková Miroslav Podhola Jan Burkert Jakub Zieg Tubuloglomerular Disease With Cone-Shaped Epiphyses Associated With Hypomorphic Variant and a Novel p.Cys14Arg in the TTC21B Gene: A Case Report
description	Monogenic nephrotic syndrome (NS) is associated with a resistance to initial glucocorticoid therapy and causative variants, which may be found in several genes influencing podocyte stability and kidney development. The TTC21B gene, which encodes the retrograde intraflagellar transport protein IFT139, is found mostly in association with ciliopathies in humans. The role of this protein in podocyte cytoskeleton stability was confirmed later and the mutated TTC21B also may be associated with proteinuric diseases, such as nephrotic syndrome. Our patient manifested as an infant with brachydactyly, nephrotic-range proteinuria, and renal tubular acidosis, and a kidney biopsy revealed focal segmental glomerulosclerosis (FSGS). Multiple phalangeal cone-shaped epiphyses of the hand were seen on X-ray. Next-generation sequencing revealed the well-described p.Pro209Leu heterozygous variant and a novel heterozygous p.Cys14Arg variant in the TTC21B gene. Our finding confirmed that the causative variants in the TTC21B gene may contribute to a spectrum of clinical features, such as glomerular proteinuric disease with tubulointerstitial involvement and skeletal abnormalities.
format	article
author	Martin Bezdíčka Dana Zemková Sylva Skálová Eva Hovorková Miroslav Podhola Jan Burkert Jakub Zieg
author_facet	Martin Bezdíčka Dana Zemková Sylva Skálová Eva Hovorková Miroslav Podhola Jan Burkert Jakub Zieg
author_sort	Martin Bezdíčka
title	Tubuloglomerular Disease With Cone-Shaped Epiphyses Associated With Hypomorphic Variant and a Novel p.Cys14Arg in the TTC21B Gene: A Case Report
title_short	Tubuloglomerular Disease With Cone-Shaped Epiphyses Associated With Hypomorphic Variant and a Novel p.Cys14Arg in the TTC21B Gene: A Case Report
title_full	Tubuloglomerular Disease With Cone-Shaped Epiphyses Associated With Hypomorphic Variant and a Novel p.Cys14Arg in the TTC21B Gene: A Case Report
title_fullStr	Tubuloglomerular Disease With Cone-Shaped Epiphyses Associated With Hypomorphic Variant and a Novel p.Cys14Arg in the TTC21B Gene: A Case Report
title_full_unstemmed	Tubuloglomerular Disease With Cone-Shaped Epiphyses Associated With Hypomorphic Variant and a Novel p.Cys14Arg in the TTC21B Gene: A Case Report
title_sort	tubuloglomerular disease with cone-shaped epiphyses associated with hypomorphic variant and a novel p.cys14arg in the ttc21b gene: a case report
publisher	Frontiers Media S.A.
publishDate	2021
url	https://doaj.org/article/76c93d0cacbe44bea1cd417d0d3b4726
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Tubuloglomerular Disease With Cone-Shaped Epiphyses Associated With Hypomorphic Variant and a Novel p.Cys14Arg in the TTC21B Gene: A Case Report

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