家族性远端肾小管酸中毒
Familial distal renal tubular acidosis.
作者信息
Zhang Lihong, Xu Bei, Niu Ya, Wang Yajuan, Tang Hui
机构信息
Department of Pediatrics, Baoding No. 1 Central Hospital, Baoding 071000, China.
出版信息
J Int Med Res. 2021 Mar;49(3):3000605211000533. doi: 10.1177/03000605211000533.
Abstract
We report the case of a family in which two sisters have distal renal tubular acidosis (dRTA). Familial dRTA is a rare disorder, with both autosomal dominant and recessive transmission. This is a report of familial dRTA from China.
摘要
我们报告了一个家庭的病例，该家庭中有两姐妹患有远端肾小管酸中毒（dRTA）。家族性dRTA是一种罕见的疾病，有常染色体显性和隐性两种遗传方式。这是一篇来自中国的关于家族性dRTA的报告。
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本文引用的文献
1
Red Blood Cell AE1/Band 3 Transports in Dominant Distal Renal Tubular Acidosis Patients.显性远端肾小管酸中毒患者的红细胞AE1/带3转运
Kidney Int Rep. 2020 Jan 13;5(3):348-357. doi: 10.1016/j.ekir.2019.12.020. eCollection 2020 Mar.
2
Treatment and long-term outcome in primary distal renal tubular acidosis.原发性远端肾小管性酸中毒的治疗及长期预后。
Nephrol Dial Transplant. 2019 Jun 1;34(6):981-991. doi: 10.1093/ndt/gfy409.
3
Pathophysiology, diagnosis and treatment of inherited distal renal tubular acidosis.遗传性远端肾小管性酸中毒的病理生理学、诊断和治疗。
J Nephrol. 2018 Aug;31(4):511-522. doi: 10.1007/s40620-017-0447-1. Epub 2017 Oct 9.
4
Primary distal renal tubular acidosis: novel findings in patients studied by next-generation sequencing.原发性远端肾小管酸中毒：通过新一代测序研究患者的新发现
Pediatr Res. 2016 Mar;79(3):496-501. doi: 10.1038/pr.2015.243. Epub 2015 Nov 16.
5
Mutation analysis and audiologic assessment in six Chinese children with primary distal renal tubular acidosis.6例中国原发性远端肾小管酸中毒患儿的突变分析及听力学评估
Ren Fail. 2014 Sep;36(8):1226-32. doi: 10.3109/0886022X.2014.930332. Epub 2014 Jun 30.
6
Molecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4 and SCL4A1 genes.对突尼斯患者远端肾小管性酸中毒的分子诊断：针对 ATP6V1B1、ATP6V0A4 和 SCL4A1 基因的北非人群的建议算法。
BMC Med Genet. 2013 Nov 20;14:119. doi: 10.1186/1471-2350-14-119.
7
Genetic causes and mechanisms of distal renal tubular acidosis.远端肾小管性酸中毒的遗传病因和机制。
Nephrol Dial Transplant. 2012 Oct;27(10):3691-704. doi: 10.1093/ndt/gfs442.
8
Hemolytic anemia and distal renal tubular acidosis in two Indian patients homozygous for SLC4A1/AE1 mutation A858D.两名印度患者纯合子 SLC4A1/AE1 突变 A858D，表现为溶血性贫血和远端肾小管性酸中毒。
Am J Hematol. 2010 Oct;85(10):824-8. doi: 10.1002/ajh.21836.
9
Cystic diseases of the kidney: molecular biology and genetics.肾脏囊性疾病：分子生物学与遗传学。
Arch Pathol Lab Med. 2010 Apr;134(4):569-82. doi: 10.5858/134.4.569.
10
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Biochem J. 2010 Feb 24;426(3):379-88. doi: 10.1042/BJ20091525.
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