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高草酸尿症：早期诊断将有助于及时进行肾脏和肝脏联合移植，以避免对所有其他器官造成不可逆转的损害。

Hyperoxaluria: An early diagnosis will allow a timely combined renal and liver transplantations to avoid irreversible damages to all other organs.

作者信息

Kottos Elisa, Adams Brigitte, Biarent Dominique, Beretta-Piccoli Xavier, Ismaili Khalid, De Bels David, Honore Patrick M, Redant Sebastien

机构信息

Department of Emergency Medicine, Queen Fabiola Children's University Hospital (Hopital Universitaire des enfants Reine Fabiola), Free University of Brussels (UniversitéLibre de Bruxelles, ULB), Brussels, Belgium.

Department of Nephrology, Queen Fabiola Children's University Hospital (Hopital Universitaire des enfants Reine Fabiola), Free University of Brussels (UniversitéLibre de Bruxelles, ULB), Brussels, Belgium.

出版信息

J Transl Int Med. 2021 Dec 31;9(4):318-322. doi: 10.2478/jtim-2020-000X. eCollection 2021 Dec 1.

DOI:10.2478/jtim-2020-000X
PMID:35136730
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8802401/
Abstract

A 4-month-old patient was admitted to the emergency room for vomiting, weight gain, food refusal and hypertension. Blood gases showed a metabolic acidosis with increased anion gap. Laboratory finding revealed severe renal failure (creatinine 8 mg/dL). Renal ultrasound showed an important hyperechogenicity of the parenchyma with loss of cortico-medullar differentiation suggesting a nephronophytosis. Genetic testing was negative. Urine oxalate levels were increased to 140 μmol/L. New genetic tests were positive for type I hyperoxaluria. The authors discuss the management of hyperoxaluria.

摘要

一名4个月大的患者因呕吐、体重增加、拒食和高血压被送入急诊室。血气分析显示代谢性酸中毒，阴离子间隙增加。实验室检查发现严重肾衰竭（肌酐8mg/dL）。肾脏超声显示实质回声显著增强，皮质-髓质分界消失，提示肾单位肾痨。基因检测为阴性。尿草酸水平升至140μmol/L。新的基因检测显示I型高草酸尿症呈阳性。作者讨论了高草酸尿症的治疗方法。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/badd/8802401/83767c53d78c/jtim-9-4-318_fig6.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/badd/8802401/bb84f04f6f41/jtim-9-4-318_fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/badd/8802401/c718c1580458/jtim-9-4-318_fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/badd/8802401/5c3433f90631/jtim-9-4-318_fig3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/badd/8802401/587eed2608d2/jtim-9-4-318_fig4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/badd/8802401/137c96227c0d/jtim-9-4-318_fig5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/badd/8802401/83767c53d78c/jtim-9-4-318_fig6.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/badd/8802401/bb84f04f6f41/jtim-9-4-318_fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/badd/8802401/c718c1580458/jtim-9-4-318_fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/badd/8802401/5c3433f90631/jtim-9-4-318_fig3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/badd/8802401/587eed2608d2/jtim-9-4-318_fig4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/badd/8802401/137c96227c0d/jtim-9-4-318_fig5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/badd/8802401/83767c53d78c/jtim-9-4-318_fig6.jpg

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本文引用的文献

1
Oxalate retinopathy is irreversible despite early combined liver-kidney transplantation in primary hyperoxaluria type 1.尽管在原发性高草酸尿症 1 型中进行了早期联合肝肾移植，但草酸钙视网膜病变仍然不可逆转。
Am J Transplant. 2019 Dec;19(12):3328-3334. doi: 10.1111/ajt.15484. Epub 2019 Jun 27.
2
The experience of combined and sequential liver and kidney transplantation from a single living donor in patients with primary hyperoxaluria type 1.1型原发性高草酸尿症患者接受来自单一活体供者的肝肾联合及序贯移植的经验
Pediatr Transplant. 2019 Jun;23(4):e13406. doi: 10.1111/petr.13406. Epub 2019 Apr 1.
3
Novel therapeutic approaches in primary hyperoxaluria.
原发性高草酸尿症的新治疗方法。
Expert Opin Emerg Drugs. 2018 Dec;23(4):349-357. doi: 10.1080/14728214.2018.1552940. Epub 2018 Dec 12.
4
Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type.来自一项大型欧洲研究的数据表明，1 型原发性高草酸尿症的结局与 AGXT 突变类型相关。
Kidney Int. 2014 Dec;86(6):1197-204. doi: 10.1038/ki.2014.222. Epub 2014 Jul 2.
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Primary hyperoxaluria.原发性高草酸尿症
N Engl J Med. 2013 Nov 28;369(22):2163. doi: 10.1056/NEJMc1311606.
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Characteristics and outcomes of children with primary oxalosis requiring renal replacement therapy.需要肾脏替代治疗的原发性高草酸尿症患儿的特征和结局。
Clin J Am Soc Nephrol. 2012 Mar;7(3):458-65. doi: 10.2215/CJN.07430711. Epub 2012 Jan 5.
7
Primary hyperoxaluria in infants: medical, ethical, and economic issues.
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