Type 2 Proximal Renal Tubular Acidosis (RTA)


Etiology

Genetic Disease

  • Carbonic Anhydrase II Deficiency
  • Cystinosis
  • Galactosemia
  • Hereditary Fructose Intolerance
  • Glycogen Storage Disease Type I
  • Lowe Syndrome
  • Metachromatic Leukodystrophy
  • Methylmalonic Acidemia
  • Proximal Tubule Cell Sodium Bicarbonate Co-Transporter (NBCe1) Defect
  • Pyruvate Carboxylase Deficiency
  • Tyrosinemia
  • Wilson Disease (see Wilson Disease): produces both distal and proximal RTA

Renal Interstitial Disease

Carbonic Anhydrase-Related Conditions

  • Acetazolamide (Diamox) (see Acetazolamide)
    • Physiology
      • Carbonic Anhydrase Inhibition, Resulting in Bicarbonate Loss in the Urine
  • Carbonic Anhydrase II Deficiency/Osteopetrosis
  • Dichlorphenamide (Keveyis) (see Dichlorphenamide)
    • Physiology
      • Carbonic Anhydrase Inhibition, Resulting in Bicarbonate Loss in the Urine
  • Mafenide Acetate (Sulfamylon) (see Mafenide Acetate)
    • Mechanism
      • Topical sulfonamide antibiotic (which is rapidly absorbed systemically in burn patients) with carbonic anhydrase inhibitor properties -> bicarbonate loss in urine
  • Sulfanilamide
  • Topiramate (Topamax) (see Topiramate)
    • Mechanism
      • Carbonic Anhydrase Inhibition, Resulting in Bicarbonate Loss in the Urine

Dysproteinemias

Drugs/Toxins

Other


Physiology


Diagnosis

Serum Chemistry

Urinalysis (see Urinalysis)

Urine Anion Gap


Clinical Manifestations

Renal Manifestations

Non-Anion Gap Metabolic Acidosis (see Metabolic Acidosis-Normal Anion Gap)


Treatment

Sodium Bicarbonate (see Sodium Bicarbonate)

Thiazide Diuretic (see Hydrochlorothiazide)


References