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