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使用定制的氨基酸基腹膜透析液改善丙酮酸脱氢酶复合物缺乏症中的乳酸酸中毒。

Improvement of lactic acidosis in pyruvate dehydrogenase complex deficiency using custom-made amino acid-based dialysate for peritoneal dialysis.

作者信息

Kuok Manson Chon In, Chow Chi Kwan Jasmine, Chan Ngai Man, Chan Winnie Kwai Yu

机构信息

Department of Paediatrics, Queen Elizabeth Hospital, Hong Kong, China.

出版信息

Pediatr Nephrol. 2025 Jul;40(7):2201-2203. doi: 10.1007/s00467-025-06679-4. Epub 2025 Jan 29.

DOI:10.1007/s00467-025-06679-4
PMID:39878874
Abstract

This case report presents a newborn with pyruvate dehydrogenase complex deficiency who developed significant lactic acidosis and acute kidney injury after birth. Peritoneal dialysis with glucose-based peritoneal dialysis fluid was initially started, but the patient had worsening hyperglycemia and lactic acidosis, likely related to excess glucose reabsorption with shunting to lactate due to the underlying metabolic disorder. As amino acid-based dialysis solution was not available in our formulary, a dialysis fluid was manually created with Vaminolact, which was commonly used in neonatal parenteral nutrition. Switching to the new dialysis fluid led to significant biochemical improvement.

摘要

本病例报告介绍了一名患有丙酮酸脱氢酶复合物缺乏症的新生儿,该患儿出生后出现严重乳酸酸中毒和急性肾损伤。最初开始使用基于葡萄糖的腹膜透析液进行腹膜透析,但患者出现了血糖恶化和乳酸酸中毒,这可能与潜在的代谢紊乱导致葡萄糖重吸收过多并分流至乳酸有关。由于我们的药品目录中没有基于氨基酸的透析液,因此使用常用于新生儿肠外营养的凡命(Vaminolact)手动配制了一种透析液。改用新的透析液后生化指标有显著改善。

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Improvement of lactic acidosis in pyruvate dehydrogenase complex deficiency using custom-made amino acid-based dialysate for peritoneal dialysis.使用定制的氨基酸基腹膜透析液改善丙酮酸脱氢酶复合物缺乏症中的乳酸酸中毒。
Pediatr Nephrol. 2025 Jul;40(7):2201-2203. doi: 10.1007/s00467-025-06679-4. Epub 2025 Jan 29.
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本文引用的文献

1
Peritoneal Dialysis Using a Bicarbonate-buffered Dialysate in a Child with an Inborn Error of Metabolism Presenting with Severe Acidosis.在一名因先天性代谢缺陷伴严重酸中毒的儿童中使用碳酸氢盐缓冲透析液进行腹膜透析
Indian J Crit Care Med. 2020 Mar;24(3):200-202. doi: 10.5005/jp-journals-10071-23372.
2
Use of locally prepared peritoneal dialysis (PD) fluid for acute PD in children and infants in Africa.在非洲,使用本地制备的腹膜透析(PD)液进行儿童和婴儿的急性 PD。
Perit Dial Int. 2020 Sep;40(5):441-445. doi: 10.1177/0896860820920132. Epub 2020 Apr 23.
3
Peritoneal dialysis and infants: further insights into a complicated relationship.
腹膜透析与婴儿:对复杂关系的进一步了解。
Pediatr Nephrol. 2018 Apr;33(4):547-551. doi: 10.1007/s00467-017-3857-3. Epub 2017 Dec 7.
4
Acute peritoneal dialysis in neonatal intensive care unit: An 8-year experience of a referral hospital.新生儿重症监护病房中的急性腹膜透析:一家转诊医院的8年经验
Pediatr Neonatol. 2018 Aug;59(4):375-379. doi: 10.1016/j.pedneo.2017.11.008. Epub 2017 Nov 16.
5
Improvised peritoneal dialysis in an 18-month-old child with severe acute malnutrition (kwashiorkor) and acute kidney injury: a case report.一名18个月大患有重度急性营养不良(夸希奥科病)和急性肾损伤患儿的简易腹膜透析:病例报告
J Med Case Rep. 2013 Jun 28;7:168. doi: 10.1186/1752-1947-7-168.
6
An update on peritoneal dialysis solutions.腹膜透析液的最新进展。
Nat Rev Nephrol. 2012 Feb 21;8(4):224-33. doi: 10.1038/nrneph.2012.13.
7
The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.丙酮酸脱氢酶复合物缺陷症的谱:371 例患者的临床、生化和遗传特征。
Mol Genet Metab. 2012 Jan;105(1):34-43. doi: 10.1016/j.ymgme.2011.09.032. Epub 2011 Oct 7.
8
Emergency management of inherited metabolic diseases.遗传性代谢疾病的应急管理
J Inherit Metab Dis. 2002 Nov;25(7):531-46. doi: 10.1023/a:1022040422590.