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New PAX2 heterozygous mutation in a child with chronic kidney disease: a case report and review of the literature

机译：慢性肾脏病患儿新的PAX2杂合突变：一例报道并文献复习

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摘要

BackgroundWe herein report a 3-year-old boy presented with chronic kidney disease (CKD) due to PAX2 missense mutation (C to G transversion at position 418 in exon 4).

机译：背景我们在此报道了一个3岁男孩，由于PAX2错义突变（外显子4中第418位从C到G的转变）而患有慢性肾脏疾病（CKD）。

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期刊名称 BMC Nephrology
作者
Li Zhang; Shu-bo Zhai; Leng-yue Zhao; Yan Zhang; Bai-chao Sun; Qing-shan Ma;
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作者单位

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年(卷),期 2018(19),-1
年度 2018
页码 245
总页数 6
原文格式 PDF
正文语种
中图分类泌尿科学（泌尿生殖系疾病）;小儿泌尿科学;肾疾病;
关键词
PAX2 mutation Chronic kidney disease Child Hypoplasia;

机译：PAX2突变;慢性肾脏疾病;儿童;发育不全;

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专利

1. New PAX2 heterozygous mutation in a child with chronic kidney disease: a case report and review of the literature [J] . Li Zhang, Shu-bo Zhai, Leng-yue Zhao, BMC Nephrology . 2018,第1期

机译：儿童慢性肾脏疾病的新PAX2杂合突变：病例报告和文献复习
2. New PAX2 heterozygous mutation in a child with chronic kidney disease: a case report and review of the literature [J] . Li Zhang, Shu-bo Zhai, Leng-yue Zhao, BMC Nephrology . 2018,第1期

机译：儿童慢性肾脏疾病的新PAX2杂合突变：病例报告和文献复习
3. A novel PAX2 heterozygous mutation in a family with Papillorenal syndrome: A case report and review of the literature [J] . Shixue Liu, Peijun Zhang, Jihong Wu, American Journal of Ophthalmology Case Reports . 2021,第a期

机译：一种新颖的 pax2 具有乳头氏综合征的家庭中的杂合酶突变：对文献的案例报告和审查
4. The Natural History of Chronic Kidney Disease Revisited-A 72-Month Mayo Health System Hypertension Clinic Practice-Based Research Network Prospective Report on End-Stage Renal Disease and Death Rates in 100 High-Risk Chronic Kidney Disease Patients: A Call for Circumspection [C] . Macaulay A.C. Onuigbo Conference on Peritoneal Dialysis . 2009

机译：慢性肾病的自然历史重新审议-A 72个月的MASO卫生系统高血压诊所的研究网络网络前期肾病和死亡率100个高危慢性肾病患者的死亡率：一个呼吁守则
5. A Psychometric Analysis of Patient-Reported Outcomes in Chronic Kidney Disease. [D] . Peipert, John Devin. 2017

机译：慢性肾脏病患者报告结果的心理分析。
6. Compound heterozygous c-Mpl mutations in a child with congenital amegakaryocytic thrombocytopenia: Functional characterization and a review of the literature [O] . Norma E. Fox, Rose Chen, Ian Hitchcock, -1

机译：具有先天性亚基芳型血小板减少症的儿童中的复合杂合性C-MPL突变：功能性表征及对文献的综述
7. New PAX2 heterozygous mutation in a child with chronic kidney disease: a case report and review of the literature [O] . Li Zhang, Shu-bo Zhai, Leng-yue Zhao, 2018

机译：新的PAX2慢性肾病儿童的杂合酶突变：案例报告和文学审查

New PAX2 heterozygous mutation in a child with chronic kidney disease: a case report and review of the literature

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