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Description of Renal Involvement in Wilson's Disease

NCT07075393 · Status: NOT_YET_RECRUITING · Type: OBSERVATIONAL · Enrollment: 150

Last updated 2025-12-10

No results posted yet for this study

Summary

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 distal renal tubular acidosis), and/or phosphate-calcium metabolism abnormalities (phosphate diabetes and hypercalciuria). These latter issues may lead to complications such as urinary stones, nephrocalcinosis, and even fracture-related osteoporosis.

In addition, long-term treatment with D-penicillamine (DPA), a common therapy for WD, can cause renal damage in 10-20% of cases, mainly affecting the glomeruli. This includes membranous nephropathy, severe proliferative glomerulonephritis, or nephrotic syndrome with minimal change disease.

Without appropriate monitoring and preventive care, both direct and indirect renal complications can lead to acute or chronic kidney failure. It is likely that the prevalence and systemic impact of renal involvement in WD are currently underestimated.

Conditions

  • Wilson Disease

Interventions

OTHER

full renal workup

full renal workup (biology and echography)

Sponsors & Collaborators

  • Fondation Ophtalmologique Adolphe de Rothschild

    lead NETWORK

Eligibility

Min Age
7 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2026-02-28
Primary Completion
2027-02-28
Completion
2027-02-28

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT07075393 on ClinicalTrials.gov