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
- Balkan Nephropathy
- Medullary Cystic Disease: produces both distal and proximal RTA
- Renal Transplant Rejection (see Renal Transplant)
- Sjogren’s Syndrome (see Sjogren’s Syndrome)
Carbonic Anhydrase-Related Conditions
- Acetazolamide (Diamox) (see Acetazolamide)
- Physiology
- Carbonic Anhydrase Inhibition, Resulting in Bicarbonate Loss in the Urine
- Physiology
- Carbonic Anhydrase II Deficiency/Osteopetrosis
- Dichlorphenamide (Keveyis) (see Dichlorphenamide)
- Physiology
- Carbonic Anhydrase Inhibition, Resulting in Bicarbonate Loss in the Urine
- Physiology
- 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
- Mechanism
- Sulfanilamide
- Topiramate (Topamax) (see Topiramate)
- Mechanism
- Carbonic Anhydrase Inhibition, Resulting in Bicarbonate Loss in the Urine
- Mechanism
Dysproteinemias
- Amyloidosis (see Amyloidosis)
- Cryoglobulinemia (see Cryoglobulinemia)
- Light Chain Disease
- Monoclonal Gammopathy of Unclear Significance (MGUS) (see Monoclonal Gammopathy of Unclear Significance)
- Multiple Myeloma (see Multiple Myeloma): produces both distal and proximal RTA
Drugs/Toxins
- Cadmium (see Cadmium)
- Copper (see Copper)
- Gentamicin (see Gentamicin)
- Ifosfamide (Ifex) (see Ifosfamide): produces both distal and proximal RTA
- L-Arginine
- Lead (see Lead)
- Mercury (see Mercury)
- Outdated Tetracycline (see Tetracycline)
- Streptozotocin (see Streptozotocin)
- Tenofovir (Viread) (see Tenofovir)
- Uranium (see Uranium)
- Valproic Acid (see Valproic Acid)
Other
- Chronic Renal Vein Thrombosis (see Renal Vein Thrombosis)
- Idiopathic (Sporadic) Type 2 Proximal Renal Tubular Acidosis
- Malignancies
- Burkitt’s Lymphoma (see Lymphoma)
- Nephrotic Syndrome (see Nephrotic Syndrome)
- Paroxysmal Nocturnal Hemoglobinuria (PNH) (see Paroxysmal Nocturnal Hemoglobinuria)
- Tetralogy of Fallot (see Tetralogy of Fallot)
- Vitamin D Deficiency (see Vitamin D)
- Vitamin D Resistance see Vitamin D)
Physiology
- Proximal Convoluted Tubule is the Main Site of Bicarbonate Reabsorption
- In proximal RTA, proximal tubular bicarbonate absorption is impaired, resulting in renal bicarbonate loss: bicarbonate is replaced by chloride (producing hyperchloremia)
Diagnosis
Serum Chemistry
- Serum Potassium (see Serum Potassium): normokalemia-hypokalemia
Urinalysis (see Urinalysis)
- Urine pH: <5.4
Urine Anion Gap
- Urine AG: (urine Na+ + urine K+) – (urine Cl-)
- Normal: -20 to -50 mEq/L
- Negative: due to intact renal ammonium ion (NH4+) excretion, as NH4Cl
- Fractional Excretion of Bicarbonate: >15%
Clinical Manifestations
Renal Manifestations
Non-Anion Gap Metabolic Acidosis (see Metabolic Acidosis-Normal Anion Gap)
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Treatment
Sodium Bicarbonate (see Sodium Bicarbonate)
- Typical Requirement: 10-15 mEq/kg/day (less if thiazide is also used)
Thiazide Diuretic (see Hydrochlorothiazide)
- May Also Be Useful
References
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