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[唐氏综合征中的肾脏异常:综述]

[Renal abnormalities in Down syndrome: A review].

作者信息

Niamien-Attai C, Bacchetta J, Ranchin B, Sanlaville D, Cochat P

机构信息

Service de pédiatrie médicale, unité de néphrologie pédiatrique, centre hospitalier universitaire de Yopougon, 21 BP 632, Abidjan 21, Côte d'Ivoire; Centre de référence des maladies rénales rares néphrogones, hôpital Femme-Mère-Enfant de Lyon, 59, boulevard Pinel, 69677 Bron cedex, France.

Centre de référence des maladies rénales rares néphrogones, hôpital Femme-Mère-Enfant de Lyon, 59, boulevard Pinel, 69677 Bron cedex, France; Université Claude-Bernard-Lyon 1, 8, avenue Rockefeller, 69008 Lyon, France.

出版信息

Arch Pediatr. 2017 Oct;24(10):1013-1018. doi: 10.1016/j.arcped.2017.07.014.

DOI:10.1016/j.arcped.2017.07.014
PMID:28893484
Abstract

Down syndrome (DS) is often associated with cardiac malformations, so that kidney damage is little known. The objective of this study was to present the diversity of renal abnormalities and their potential progression to chronic renal failure. Among congenital abnormalities of the kidney and urinary tract (CAKUT) abnormalities appear to be frequent: pyelectasis, megaureters, posterior urethra valves, as well as renal malformations such as renal hypoplasia, horseshoe kidney, or renal ectopia. Contributing factors to acute kidney failure have been described in patients with DS: bilateral lesions and minor renal injury, such as glomerular microcysts, tubular dilation, and immature glomeruli. Histological lesions can be found, albeit nonspecific; they occur earlier than in the general population. Two metabolic specificities have also been described: decreased clearance of uric acid and a hypercalciuria by passive hyperabsorption. End-stage renal disease can occur, thus raising the problem of the best choice of management. In conclusion, renal abnormalities in patients in DS should be known so as to preserve a good renal functional prognosis: systematic screening with renal ultrasound can be proposed.

摘要

唐氏综合征(DS)常伴有心脏畸形,因此肾脏损害鲜为人知。本研究的目的是呈现肾脏异常的多样性及其发展为慢性肾衰竭的可能性。在先天性肾脏和尿路异常(CAKUT)中,异常情况似乎很常见:肾盂扩张、巨输尿管、后尿道瓣膜,以及肾脏发育不全、马蹄肾或肾异位等肾脏畸形。唐氏综合征患者急性肾衰竭的相关因素已被描述:双侧病变和轻微肾脏损伤,如肾小球微囊肿、肾小管扩张和未成熟肾小球。虽然组织学病变是非特异性的,但可被发现;它们比一般人群出现得更早。还描述了两种代谢特异性:尿酸清除率降低和通过被动性高吸收导致的高钙尿症。终末期肾病可能发生,从而引发最佳治疗选择的问题。总之,应了解唐氏综合征患者的肾脏异常情况,以保持良好的肾功能预后:可建议进行肾脏超声系统筛查。

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J Congenit Cardiol. 2021;5(1):7. doi: 10.1186/s40949-021-00061-3. Epub 2021 Apr 20.
2
The role of the mitochondrial trans-sulfuration in cerebro-cardio renal dysfunction during trisomy down syndrome.线粒体转硫作用在唐氏综合征三体时的心肾脑功能障碍中的作用。
Mol Cell Biochem. 2024 Apr;479(4):825-829. doi: 10.1007/s11010-023-04761-9. Epub 2023 May 17.
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Why Is Health Care for Children with Down Syndrome So Crucial from the First Days of Life? A Retrospective Cohort Study Emphasized Transient Abnormal Myelopoiesis (TAM) Syndrome at Three Centers.
为什么从生命的第一天起,唐氏综合征儿童的医疗保健就如此重要?在三个中心强调短暂性髓系造血异常(TAM)综合征的回顾性队列研究。
Int J Environ Res Public Health. 2022 Aug 8;19(15):9774. doi: 10.3390/ijerph19159774.
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Widespread kidney anomalies in children with Down syndrome.唐氏综合征患儿的肾脏广泛畸形。
Pediatr Nephrol. 2022 Oct;37(10):2361-2368. doi: 10.1007/s00467-022-05455-y. Epub 2022 Feb 3.
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Prenatal genetic considerations of congenital anomalies of the kidney and urinary tract (CAKUT).先天性肾和泌尿道异常(CAKUT)的产前遗传考虑因素。
Prenat Diagn. 2019 Aug;39(9):679-692. doi: 10.1002/pd.5536. Epub 2019 Aug 5.