Nail-patella-like renal disease

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Synonyms: Salcedo syndrome

A rare genetic glomerular disease characterized by variably severe nephropathy with microscopic hematuria and proteinuria in the absence of nail and bone abnormalities. Characteristic ultrastructural findings are irregular thickening and moth-eaten appearance of the glomerular basement membrane with focal deposition of type III collagen fibrils.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version July 2024

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Clinical Trials

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