Renal Presentations

Presentations of cystic kidneys, persistent hematuria, recurrent stones, or progressive CKD where the renal phenotype is often the first sign of an underlying syndrome. Reasoning runs along three structural lines: cystic (parenchymal architecture, often ciliopathic), glomerular (basement membrane or podocyte, with the urinary sediment and family history doing the discriminating), and tubular (transport defects, stones, electrolyte signatures). The extrarenal features carry most of the syndrome diagnosis: hearing loss with hematuria points to Alport, cysts with diabetes and uterine anomalies to HNF1B, cysts with retinal angioma and cerebellar hemangioblastoma to VHL. Look outside the kidney before locking in.