Tubuloglomerular Disease With Cone-Shaped Epiphyses Associated With Hypomorphic Variant and a Novel p.Cys14Arg in the TTC21B Gene: A Case Report.
Tubuloglomerular Disease With Cone-Shaped Epiphyses Associated With Hypomorphic Variant and a Novel p.Cys14Arg in the TTC21B Gene: A Case Report.
复制标题
与亚形变体相关的圆锥形骨骺肾小球疾病和 TTC21B 基因中的新型 p.Cys14Arg：病例报告。
DOI：
10.3389/fped.2021.752878
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发表时间：
2021
影响因子：
2.6
通讯作者：
Zieg J
中科院分区：
文献类型：
--
作者：
Bezdíčka M;Zemková D;Skálová S;Hovorková E;Podhola M;Burkert J;Zieg J
单基因肾病综合征（NS）与对初始糖皮质激素治疗的抵抗和致病变异有关，这些变异可能存在于影响足细胞稳定性和肾脏发育的几个基因中。TTC21 B基因编码鞭毛内逆行转运蛋白IFFT 139，发现主要与人类的纤毛病有关。后来证实了这种蛋白在足细胞骨架稳定性中的作用，突变的TTC21 B也可能与蛋白尿疾病如肾病综合征有关。我们的病人表现为一个婴儿短指，肾病范围蛋白尿，肾小管酸中毒，肾活检发现局灶节段性肾小球硬化症（FSGS）。X线片显示手部多个指骨锥形骨骺。下一代测序揭示了在TTC21B基因中的良好描述的p.Pro209Leu杂合变体和新的杂合p.Cys14Arg变体。我们的发现证实了TTC21B基因的致病变异可能导致一系列临床特征，如肾小球蛋白尿病伴肾小管间质受累和骨骼异常。
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.
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影响因子：
3
作者：
Bezdicka, Martin;Stolbova, Sarka;Zieg, Jakub
通讯作者：
Zieg, Jakub
影响因子：
4.6
作者：
Roca, Neus;Munoz, Marina;Ariceta, Gema
通讯作者：
Ariceta, Gema
影响因子：
0.4
作者：
El Fotoh, Wafaa Moustafa M. Abo;Al-fiky, Amira Fathy
通讯作者：
Al-fiky, Amira Fathy
影响因子：
13.6
作者：
Cong, Evelyne Huynh;Bizet, Albane A.;Antignac, Corinne
通讯作者：
Antignac, Corinne
影响因子：
19.6
作者：
Bierzynska, Agnieszka;McCarthy, Hugh J.;Saleem, Moin A.
通讯作者：
Saleem, Moin A.