Validation, Implementation, and Cost-analysis of a Strategy for Personalized Diagnosis of Rare Kidney Diseases

Inclusion Criteria

• •proteinuria and/or hematuria in the absence of immune deposits on renal biopsy or immune-mediated glomerulopathy resistant to treatment (e.g., steroids, immunosuppressive drugs);
• •family history of kidney diseases and/or consanguinity;
• •extrarenal involvement;
• •ultrasound evidence of at least two cysts in each kidney or hyperechogenic kidneys or nephrocalcinosis;
• •persistent metabolic abnormalities (metabolic acidosis or alkalosis without kidney function impairment; calcium phosphate metabolism abnormalities) after exclusion of secondary causes;
• •availability of clinical information.
• •signed informed consent form