婴儿肾单位肾痨1例临床特点、基因突变及家系基因分析

董兴强; 朱秋皎; 孟祥营; 黄赛虎; 刘影; 李莺; 柏振江; 严向明; 吴水燕

doi:10.16766/j.cnki.issn.1674-4152.002753

婴儿肾单位肾痨1例临床特点、基因突变及家系基因分析

doi: 10.16766/j.cnki.issn.1674-4152.002753

1.
苏州大学附属儿童医院重症医学科，江苏苏州 215000
2.
苏州大学附属儿童医院研究所，江苏苏州 215000
3.
苏州大学附属儿童医院泌尿外科

基金项目:

江苏省基础研究计划青年基金项目 BK20210097

详细信息

通讯作者:
吴水燕, E-mail: wushuiyany@163.com

中图分类号: R692
计量
- 文章访问数: 148
- HTML全文浏览量: 105
- PDF下载量: 13
- 被引次数: 0
出版历程
- 收稿日期: 2021-10-15
- 网络出版日期: 2022-12-30

摘要

- 肾单位肾痨 /
- 基因突变 /
- 临床特点 /
- 婴儿

HTML全文

图 1 患儿肝脏和肾脏影像学特点

注：A为肝胆核素扫描，24 h后肠道仍未发现放射性物质; B彩超示肾盂分离；C彩超示肾囊肿。

Figure 1. Imaging features of the liver and kidney in the patient

下载: 全尺寸图片幻灯片

图 2 患儿家系遗传图谱和突变位点分析

注：患儿NPHP3基因存在两处基因突变c.1817G>A(p.W606*)、c.3402_3403delTG(p.A1135Sfs*5)，其分别来源于患儿母亲、父亲。

Figure 2. Genetic mapping and mutations in the pedigree

下载: 全尺寸图片幻灯片

参考文献(15)

[1]	MCCONNACHIE D J, STOW J L, MALLETT A J. Ciliopathies and the kidney: A review[J]. Am J Kidney Dis, 2021, 77(3): 410-419. doi: 10.1053/j.ajkd.2020.08.012
[2]	方韶晗, 邓芳, 徐达良, 等. 10例肾单位肾痨患儿的临床特征和基因变异分析[J]. 安徽医学, 2021, 42(5): 498-501. https://www.cnki.com.cn/Article/CJFDTOTAL-AHYX202105008.htm FANG S H, DENG F, XU D L, et al. Clinical features and genetic variation analysis of 10 children with nephronephrhoea tuberculosis[J]. Anhui Medical Journal, 2021, 42(5): 498-501. https://www.cnki.com.cn/Article/CJFDTOTAL-AHYX202105008.htm
[3]	王东, 童桂霞, 董睿, 等. 罕见肾单位肾痨患儿的临床与基因变异分析[J]. 中华医学遗传学杂志, 2020, 37(7): 743-746. doi: 10.3760/cma.j.issn.1003-9406.2020.07.010 WANG D, TONG G X, DONG R, et al. Clinical and genetic analysis of a patient with rare nephronophthisis[J]. Chinese Journal of Medical Genetics, 2020, 37(7): 743-746. doi: 10.3760/cma.j.issn.1003-9406.2020.07.010
[4]	LUO F, TAO Y H. Nephronophthisis: A review of genotype-phenotype correlation[J]. Nephrology(Carlton), 2018, 23(10): 904-911.
[5]	李国民, 刘海梅, 陈径, 等. NPHP3基因突变致婴幼儿期进展为终末期肾病的肾单位肾痨2例并文献复习[J]. 中国循证儿科杂志, 2017, 12(5): 362-367. doi: 10.3969/j.issn.1673-5501.2017.05.009 LI G M, LIU H D, CHEN J, et al. Progression to end-stage renal disease during infancy and early child in two children with juvenile nephronophthisis caused by NPHP3 gene mutation and literature review[J]. Chinese Journal of Evidence-Based Pediatrics, 2017, 12(5): 362-367. doi: 10.3969/j.issn.1673-5501.2017.05.009
[6]	GOGENDEAU D, LEMULLOIS M, LEBORGNE P, et al. MKS-NPHP module proteins control ciliary shedding at the transition zone[J]. PLoS Biol, 2020, 18(3): e3000640. DOI: 10.1371/journal.pbio.3000640.
[7]	DOREILLE A, RAYMOND L, LEBRE A S, et al. Nephronophthisis in young adults phenocopying thrombotic microangiopathy and severe nephrosclerosis[J]. Clin J Am Soc Nephrol, 2021, 16(4): 615-617. doi: 10.2215/CJN.11890720
[8]	BRAUN D A, SCHUELER M, HALBRITTER J, et al. Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity[J]. Kidney Int, 2016, 89(2): 468-475. doi: 10.1038/ki.2015.317
[9]	徐鑫星, 孙周云, 邓凡, 等. NPHP不同基因变异进展为终末期肾病的肾单位肾痨3例[J]. 临床儿科杂志, 2021, 39(6): 433-436. doi: 10.3969/j.issn.1000-3606.2021.06.008 XU X X, SUN Z Y, DENG F, et al. Progressing of Nephronophthisis with different NPHP gene variations to end-stage renal disease in 3 cases[J]. Journal of Clinical Pediatrics, 2021, 39(6): 433-436. doi: 10.3969/j.issn.1000-3606.2021.06.008
[10]	李弢, 徐云云, 陈卫萍, 等. 青少年型肾单位肾痨1例及文献复习[J]. 微循环学杂志, 2019, 29(1): 96-98. doi: 10.3969/j.issn.1005-1740.2019.01.022 LI T, XU Y Y, CHEN W P, et al. Juvenile nephrotic tuberculosis: A case report and literature review[J]. Chinese Journal of Microcirculation, 2019, 29(1): 96-98. doi: 10.3969/j.issn.1005-1740.2019.01.022
[11]	BLASIUS T L, TAKAO D, VERHEY K J. NPHP proteins are binding partners of nucleoporins at the base of the primary cilium[J]. PLoS One, 2019, 14(9): e0222924. DOI: 10.1371/journal.pone.0222924.
[12]	SRIVASTAVA S, MOLINARI E, RAMAN S, et al. Many genes-one disease?Genetics of nephronophthisis(NPHP) and NPHP-associated disorders[J]. Front Pediatr, 2018, 5(5): 287.
[13]	余明惠, 沈茜. 肾单位肾痨致病基因相关信号通路研究进展[J]. 国际儿科学杂志, 2018, 45(1): 1-4. doi: 10.3760/cma.j.issn.1673-4408.2018.01.001 YU H M, SHEN Q. Progress in genetics of NPHP related signaling pathway[J]. International Journal of Pediatrics, 2018, 45(1): 1-4. doi: 10.3760/cma.j.issn.1673-4408.2018.01.001
[14]	简珊, 魏骐骄, 刘雨桐, 等. 1例肾单位肾痨12型的临床特点及TTC21B基因型研究[J]. 中国当代儿科杂志, 2019, 21(6): 580-584. https://www.cnki.com.cn/Article/CJFDTOTAL-DDKZ201906018.htm JIAN S, WEI Q J, LIU Y T, et al. Clinical features and TTC21B genotype of a child with nephronophthisis type 12[J]. Chinese Journal of Contemporary Pediatrics, 2019, 21(6): 580-584. https://www.cnki.com.cn/Article/CJFDTOTAL-DDKZ201906018.htm
[15]	杨静. 肾单位肾痨临床特点及基因突变分析[D]. 武汉: 华中科技大学, 2019. YANG J. Clinical characteristics and gene mutation analysis of nephronophthisis[D]. Wuhan: Huazhong University of Science and Technology, 2019.