原发性高草酸尿
乙醛酸循环
草酸盐
草酸钙
医学
肾
肾结石
肾钙质沉着症
生物化学
内分泌学
内科学
生物
化学
钙
新陈代谢
有机化学
作者
Sonia Fargue,Cécile Acquaviva Bourdain
出处
期刊:Ndt Plus
[Oxford University Press]
日期:2021-10-26
卷期号:15 (Supplement_1): i4-i8
被引量:23
摘要
ABSTRACT Primary hyperoxaluria type 1 (PH1) is a rare genetic form of calcium oxalate kidney stone disease. It is caused by a deficiency in the liver-specific enzyme, alanine:glyoxylate aminotransferase (AGT), a pyridoxal-5′-phosphate (PLP)-dependent enzyme involved in the metabolism of glyoxylate. The excessive endogenous synthesis of oxalate that ensues leads to hyperoxaluria, and the crystallization of the poorly soluble calcium salt of oxalate is responsible for a severe kidney stone disease, which can progress to end-stage renal disease, systemic deposition of oxalate and death. Knowledge about metabolic precursors of glyoxylate and oxalate, molecular pathology of AGT and analytical methods for diagnosis and clinical assessment have allowed a better understanding of the mechanisms underlying PH1 and opened the door to new therapeutic strategies.
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