肾小管酸中毒
医学
肾钙质沉着症
肝肾综合征
急性肾损伤
肾
肾病
肾小管病变
范科尼综合征
肾脏疾病
内科学
病理
胃肠病学
内分泌学
肝硬化
酸中毒
糖尿病
作者
Julien Dang,Kévin Chevalier,Emmanuel Letavernier,Côme Tissandier,Sarah Mouawad,Dominique Debray,Mickaël Alexandre Obadia,Aurélia Poujois
出处
期刊:Ndt Plus
[Oxford University Press]
日期:2024-03-07
卷期号:17 (4)
被引量:3
摘要
Wilson's disease (WD) is a rare inherited disease due to the mutation of the ATP7B gene, resulting in impaired hepatic copper excretion and its pathological accumulation in various organs such as the liver, the nervous system, or the kidneys. Whereas liver failure and neuropsychiatric disorders are the most common features, less is known about the renal complications. We conducted a review of the literature to define the characteristics and pathophysiology of kidney involvement during WD. This review shed light on strong evidence for direct copper toxicity to renal tubular cells. Excessive tubular copper accumulation might present with various degrees of tubular dysfunction, ranging from mild hydroelectrolytic and acid-base disorders to complete Fanconi syndrome. Proximal and distal renal tubular acidosis also favors development of nephrolithiasis, nephrocalcinosis, and bone metabolism abnormalities. Indirect complications might involve renal hypoperfusion as occurs in hepatorenal or cardiorenal syndrome, but also tubular casts' formation during acute hemolysis, rhabdomyolysis, or bile cast nephropathy. Acute kidney failure is not uncommon in severe WD patients, and independently increases mortality. Finally, specific and long-term therapy by D-penicillamin, one of the most efficient drugs in WD, can cause glomerular injuries, such as membranous nephropathy, minimal-change disease, and, rarely, severe glomerulonephritis. Altogether, our study supports the need for interdisciplinary evaluation of WD patients involving nephrologists, with regular monitoring of tubular and glomerular functions, to provide adequate prevention of renal and bone involvement.
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