Renal · Genetic renal diseases module
By completing this question set, you will be able to map each inherited tubular disorder to its specific nephron segment transporter, predict the resulting electrolyte pattern, and identify the corresponding pharmacologic mimic. You will distinguish Bartter from Gitelman syndrome by their calcium handling (hypercalciuria vs hypocalciuria) and clinical presentation (neonatal vs adolescent). You will identify Liddle syndrome and AME as pseudo-hyperaldosteronism states that mimic hyperaldosteronism but have low aldosterone, and distinguish between them by treatment response (amiloride vs spironolactone). You will diagnose Fanconi syndrome from its generalized PCT dysfunction pattern and distinguish cystinuria from cystinosis. You will apply the water deprivation test to distinguish central from nephrogenic diabetes insipidus.