Template:Renal tubular disorders DDX

Renal tubular disorders

• Salt-wasting tubulopathies
  • Gitelman syndrome — distal convoluted tubule (NCC defect); hypokalemia, hypomagnesemia, hypocalciuria, metabolic alkalosis
  • Bartter syndrome — thick ascending limb (NKCC2/ROMK/ClC-Kb defect); hypokalemia, hypercalciuria, metabolic alkalosis
  • Liddle syndrome — collecting duct (ENaC gain-of-function); hypokalemia, hypertension, metabolic alkalosis
• Renal tubular acidosis
  • Renal tubular acidosis type I (distal) — hypokalemia, metabolic acidosis, nephrocalcinosis
  • Renal tubular acidosis type II (proximal) — hypokalemia, metabolic acidosis, Fanconi syndrome
  • Renal tubular acidosis type IV — hyperkalemia, metabolic acidosis, hypoaldosteronism
• Inherited disorders of tubular transport
  • Cystinuria — proximal tubule amino acid transport defect; recurrent cystine stones
  • Fanconi syndrome — proximal tubule generalized dysfunction; glucosuria, aminoaciduria, phosphaturia
  • Nephrogenic diabetes insipidus — collecting duct (aquaporin/V2R defect); polyuria, hypernatremia
  • Dent disease — proximal tubule (ClC-5 defect); low molecular weight proteinuria, nephrocalcinosis
• Acquired tubulopathies
  • Diuretic use/abuse (thiazide mimics Gitelman; loop mimics Bartter)
  • Aminoglycosides nephrotoxicity
  • Cisplatin nephrotoxicity
  • Amphotericin B nephrotoxicity
  • Lithium-induced nephrogenic DI