结节性硬化症合并肾结石及远端肾小管酸中毒：病例报告与文献综述
Tuberous Sclerosis Complex with Renal Stones and Distal Renal Tubular Acidosis: Case Report and Literature Review.
作者信息
Al Omairi Anwar, Al Futaisi Amna
机构信息
Pediatric Nephrology Unit, Department of Child Health, Sultan Qaboos University Hospital, Muscat, Oman.
Pediatric Neurology Unit, Department of Child Health, Sultan Qaboos University, Muscat, Oman.
出版信息
Oman Med J. 2023 Jul 31;38(4):e535. doi: 10.5001/omj.2023.32. eCollection 2023 Jul.
Abstract
Distal renal tubular acidosis (RTA) is a common cause of renal stones and nephrocalcinosis in children. Distal RTA can be either acquired or congenital because of a genetic defect. Tuberous sclerosis complex is an autosomal dominant inherited neurocutaneous syndrome with variable renal involvement. We describe a case of a six-year-old boy with tuberous sclerosis complex who developed distal RTA and renal stones.
摘要
远端肾小管酸中毒（RTA）是儿童肾结石和肾钙质沉着症的常见病因。远端RTA可因遗传缺陷而获得性或先天性发病。结节性硬化症是一种常染色体显性遗传的神经皮肤综合征，肾脏受累情况各异。我们报告一例患有结节性硬化症的6岁男孩，该患儿并发了远端RTA和肾结石。
相似文献
1
Tuberous Sclerosis Complex with Renal Stones and Distal Renal Tubular Acidosis: Case Report and Literature Review.结节性硬化症合并肾结石及远端肾小管酸中毒：病例报告与文献综述
Oman Med J. 2023 Jul 31;38(4):e535. doi: 10.5001/omj.2023.32. eCollection 2023 Jul.
2
The syndrome of distal (type 1) renal tubular acidosis. Clinical and laboratory findings in 58 cases.远端（1型）肾小管酸中毒综合征。58例临床及实验室检查结果
Medicine (Baltimore). 1988 Mar;67(2):84-99. doi: 10.1097/00005792-198803000-00002.
3
Renal tubular acidosis (RTA) and kidney stones: Diagnosis and management.肾小管酸中毒（RTA）与肾结石：诊断与管理
Arch Esp Urol. 2021 Jan;74(1):123-128.
4
Distal renal tubular acidosis, autoimmune thyroiditis, enamel hypomaturation, and tooth agenesis caused by homozygosity of a novel double-nucleotide substitution in SLC4A4.常染色体隐性遗传性疾病 SLC4A4 基因双核苷酸突变导致的远端肾小管性酸中毒、自身免疫性甲状腺炎、釉质发育不全和牙齿缺失
J Am Dent Assoc. 2022 Jul;153(7):668-676. doi: 10.1016/j.adaj.2021.12.009. Epub 2022 Mar 5.
5
Incomplete Distal Renal Tubular Acidosis and Kidney Stones.不完全远端肾小管性酸中毒与肾结石。
Adv Chronic Kidney Dis. 2018 Jul;25(4):366-374. doi: 10.1053/j.ackd.2018.05.007.
6
Secondary erythrocytosis in distal renal tubular acidosis: report of one case.
Acta Paediatr Taiwan. 2000 Mar-Apr;41(2):90-2.
7
Clinical and biochemical findings in Mexican patients with distal renal tubular acidosis.墨西哥远端肾小管酸中毒患者的临床和生化检查结果
Rev Invest Clin. 2014 Sep-Oct;66(5):386-92.
8
[Inherited tubular renal acidosis].[遗传性肾小管性酸中毒]
Ann Biol Clin (Paris). 2011 Jul-Aug;69(4):405-10. doi: 10.1684/abc.2011.0590.
9
Renal calcification in children with renal tubular acidosis: What a paediatrician should know.肾小管酸中毒患儿的肾钙化：儿科医生应了解的知识
World J Clin Pediatr. 2023 Dec 9;12(5):295-309. doi: 10.5409/wjcp.v12.i5.295.
10
[Accidentally diagnosed distal renal tubular acidosis with nephrocalcinosis - a case report].[意外诊断为伴有肾钙质沉着症的远端肾小管酸中毒——一例报告]
Pol Merkur Lekarski. 2019 Mar 28;46(273):146-148.
本文引用的文献
1
Distal renal tubular acidosis: ERKNet/ESPN clinical practice points.远端肾小管性酸中毒：ERKNet/ESPN 临床实践要点。
Nephrol Dial Transplant. 2021 Aug 27;36(9):1585-1596. doi: 10.1093/ndt/gfab171.
2
Tuberous Sclerosis Complex.结节性硬化症。
Semin Pediatr Neurol. 2021 Apr;37:100875. doi: 10.1016/j.spen.2021.100875. Epub 2021 Feb 11.
3
Distal renal tubular acidosis: a systematic approach from diagnosis to treatment.远端肾小管性酸中毒：从诊断到治疗的系统方法。
J Nephrol. 2021 Dec;34(6):2073-2083. doi: 10.1007/s40620-021-01032-y. Epub 2021 Mar 26.
4
Kidney intercalated cells and the transcription factor FOXi1 drive cystogenesis in tuberous sclerosis complex.肾脏闰细胞和转录因子 FOXi1 驱动结节性硬化症中的囊肿发生。
Proc Natl Acad Sci U S A. 2021 Feb 9;118(6). doi: 10.1073/pnas.2020190118.
5
Renal Manifestations of Tuberous Sclerosis Complex.结节性硬化症的肾脏表现
J Kidney Cancer VHL. 2020 Aug 27;7(3):5-19. doi: 10.15586/jkcvhl.2020.131. eCollection 2020.
6
Renal Tubular Acidosis.肾小管性酸中毒。
Indian J Pediatr. 2020 Sep;87(9):733-744. doi: 10.1007/s12098-020-03318-8. Epub 2020 Jun 26.
7
Metabolic Acidosis in CKD: Core Curriculum 2019.慢性肾脏病代谢性酸中毒：2019 年核心课程。
Am J Kidney Dis. 2019 Aug;74(2):263-275. doi: 10.1053/j.ajkd.2019.01.036. Epub 2019 Apr 26.
8
Renal disease in tuberous sclerosis complex: pathogenesis and therapy.结节性硬化症相关肾脏疾病：发病机制与治疗。
Nat Rev Nephrol. 2018 Nov;14(11):704-716. doi: 10.1038/s41581-018-0059-6.
9
Incomplete Distal Renal Tubular Acidosis and Kidney Stones.不完全远端肾小管性酸中毒与肾结石。
Adv Chronic Kidney Dis. 2018 Jul;25(4):366-374. doi: 10.1053/j.ackd.2018.05.007.
10
Nephrolithiasis and Nephrocalcinosis From Topiramate Therapy in Children With Epilepsy.托吡酯治疗儿童癫痫所致的肾结石和肾钙质沉着症
Kidney Int Rep. 2018 Feb 21;3(3):684-690. doi: 10.1016/j.ekir.2018.02.005. eCollection 2018 May.
Zotero 插件