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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.

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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