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Description of Renal Involvement in Wilson's Disease

Recruitingn/aAges 7 Years - anyAllFondation Ophtalmologique Adolphe de Rothschild
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In plain words

What the trial is, and whether it could suit you

Wilson's disease (WD) is a rare genetic disorder that leads to copper accumulation in various tissues, including the liver, nervous system, heart, and kidneys. Renal involvement in WD has been poorly studied, and systematic screening is not currently recommended. Indirect renal complications are the most common, such as hepatorenal and cardiorenal syndromes, as well as severe complications like hemolysis or rhabdomyolysis. However, literature suggests that copper may exert a direct toxic effect on renal tubular cells, leading to both proximal and distal tubular dysfunction. These may manifest through often subtle signs, such as aminoaciduria, glycosuria, hypouricemia, and low-molecular-weight proteinuria. Electrolyte imbalances of varying severity may also occur, including hypokalemia, which can cause muscle cramps and cardiac arrhythmias, as well as acid-base disorders (proximal or dis

Sign in to get the eligibility rules as simple questions to take to your doctor.

๐Ÿ“‹ Eligibility rules (as published)
Inclusion Criteria: * Patient aged 7 years and older * Diagnosed with Wilson's disease, with a Leipzig score โ‰ฅ 4 Exclusion Criteria: * Patient who has undergone organ transplantation * Known renal comorbidity unrelated to Wilson's disease * Pregnant or breastfeeding woman
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What it tests

  • full renal workup
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Where

1 site
Hรดpital Fondation Adolphe de Rothschild
Paris, France
๐Ÿค Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible โ€” always decide together with your own doctor.
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