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胎儿孤立性高回声肾相关基因杂合致病变异的胱氨酸尿症产前诊断：一例报告

Prenatal diagnosis of cystinuria with a heterozygous pathogenic variant in gene associated with isolated hyperechogenic fetal kidneys: A case report.

作者信息

Aigbogun Osaretin Pamela, Vancoppenolle Noémie, Coppens Sandra, Marangoni Martina, Elsen Elodie, Cassart Marie, Gounongbe Caroline

机构信息

Department of Fetal Medicine CHU Saint Pierre Brussels Belgium.

ULB Center of Human Genetics, Hôpital Universitaire de Bruxelles, Université Libre de Bruxelles Brussels Belgium.

出版信息

Clin Case Rep. 2024 Jul 15;12(7):e8730. doi: 10.1002/ccr3.8730. eCollection 2024 Jul.

DOI:10.1002/ccr3.8730
PMID:39015212
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11250157/
Abstract

Cystinuria is suspected antenatally by a hyperechogenic fetal colonic content. We report the first prenatal case of autosomal dominant -related cystinuria associated with isolated hyperechogenic kidneys as the only prenatal sonographic sign.

摘要

产前通过胎儿结肠内容物高回声怀疑患有胱氨酸尿症。我们报告了首例与常染色体显性相关的胱氨酸尿症的产前病例，其产前超声检查唯一征象为孤立性高回声肾。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/50af/11250157/21c620bf3bcd/CCR3-12-e8730-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/50af/11250157/810e0f226a30/CCR3-12-e8730-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/50af/11250157/c72f46701efa/CCR3-12-e8730-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/50af/11250157/21c620bf3bcd/CCR3-12-e8730-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/50af/11250157/810e0f226a30/CCR3-12-e8730-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/50af/11250157/c72f46701efa/CCR3-12-e8730-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/50af/11250157/21c620bf3bcd/CCR3-12-e8730-g003.jpg

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本文引用的文献

1
Postnatal outcome of children with antenatal colonic hyperechogenicity.产前结肠回声增强胎儿的产后结局。
Prenat Diagn. 2024 Jan;44(1):28-34. doi: 10.1002/pd.6475. Epub 2023 Dec 6.
2
Cystinuria: An Overview of Diagnosis and Medical Management.胱氨酸尿症：诊断与药物治疗概述
Turk Arch Pediatr. 2022 Jul;57(4):377-384. doi: 10.5152/TurkArchPediatr.2022.22105.
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Etiologies and outcomes of prenatally diagnosed hyperechogenic kidneys.产前诊断的肾回声增强的病因和结局。
Prenat Diagn. 2021 Mar;41(4):465-477. doi: 10.1002/pd.5883. Epub 2021 Jan 3.
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Cystinuria: clinical practice recommendation.胱氨酸尿症：临床实践建议。
Kidney Int. 2021 Jan;99(1):48-58. doi: 10.1016/j.kint.2020.06.035. Epub 2020 Sep 9.
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Perinatal and infant outcome of fetuses with prenatally diagnosed hyperechogenic kidneys.胎儿产前超声检查发现肾脏回声增强的围产儿和婴儿结局。
Ultrasound Obstet Gynecol. 2021 Jun;57(6):953-958. doi: 10.1002/uog.22121.
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A Primer on Congenital Anomalies of the Kidneys and Urinary Tracts (CAKUT).肾脏和泌尿道先天异常（CAKUT）概论。
Clin J Am Soc Nephrol. 2020 May 7;15(5):723-731. doi: 10.2215/CJN.12581019. Epub 2020 Mar 18.
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Evaluation and Medical Management of Patients with Cystine Nephrolithiasis: A Consensus Statement.胱氨酸肾病结石患者的评估和医学管理：共识声明。
J Endourol. 2020 Nov;34(11):1103-1110. doi: 10.1089/end.2019.0703. Epub 2020 Apr 6.
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CYP24A1 and SLC34A1 genetic defects associated with idiopathic infantile hypercalcemia: from genotype to phenotype.CYP24A1 和 SLC34A1 基因缺陷与特发性婴儿高钙血症相关：从基因型到表型。
Clin Chem Lab Med. 2019 Oct 25;57(11):1650-1667. doi: 10.1515/cclm-2018-1208.
9
Prenatal detection of isolated bilateral hyperechogenic kidneys: Etiologies and outcomes.产前检测孤立性双侧肾脏回声增强：病因与结局。
Prenat Diagn. 2019 Aug;39(9):693-700. doi: 10.1002/pd.5418. Epub 2019 Feb 20.
10
Prenatal hyperechogenic kidneys in three cases of infantile hypercalcemia associated with SLC34A1 mutations.三例伴有 SLC34A1 基因突变的婴儿高钙血症患者的产前强回声肾脏。
Pediatr Nephrol. 2018 Oct;33(10):1723-1729. doi: 10.1007/s00467-018-3998-z. Epub 2018 Jun 29.