questions 4

Renal Tubular Acidosis (RTA)

Topic updated on 11/06/17 9:09pm

  • A 7-year-old boy presents to his pediatrician for a wellness visit. The mother reports that the patient urinates frequently and does not appear to be as tall as his classmates. Upon further questioning, the patient's mother states he has episodes of constipation and muscle weakness. Physical examination is notable for growth failure. Laboratory testing is significant for hyperchloremic metabolic acidosis, hypophosphatemia, and hypokalemia. Urinalysis is notable for a urine pH < 5.5, aminoaciduria, and glucosuria. (Fanconi syndrome leading to a type II renal tubular acidosis.)
  • Clinical definition
    • renal tubular dysfunction that results in a hyperchloremic and normal anion gap metabolic acidosis
      • there is a relatively normal glomerular filtration rate
Renal Tubular Acidosis
Pathogenesis Treatment Comments
Type II (proximal)
  • Fanconi syndrome
  • Carbonic anhydrase II deficiency
  • Medications
    • acetazolamide
    • ifosfamide
    • topiramate
  • Heavy metals
    • e.g., mercury, cadmium, copper, and lead
  • Multiple myeloma
  • Wilson disease
  • ↓ bicarbonate reabsorption in the proximal tubule
    • administer bicarbonate and urine remains basic 
  • Potassium citrate
  • Thiazide diuretics
  • Associated with hypokalemia
  • At risk of developing hypophosphatemic rickets
  • Urine pH is initially > 5.5 and then later becomes < 5.5
Type I (distal)
  • Sjogren syndrome
  • Rheumatoid arthritis
  • Anion exchanger gene mutations
  • Medications
    • lithium
    • ifosfamide
    • analgesics
    • amphotericin B
  • Defective hydrogen secretion
  • Sodium bicarbonate or sodium citrate    
  • Associated with hypokalemia
  • At risk of developing calcium phosphate stones
  • Urine pH > 5.5
Type IV (hyporeninemic hypoaldosteronism)
  • Diabetic nephropathy
  • Mineralocorticoid deficiency
  • Sickle cell disease
  • Systemic lupus erythematosus
  • Medications
    • heparin
    • angiotensin converting enzyme (ACE) inhibitors
    • angiogensin receptor blockers (ARBs)
    • cyclosporine
    • TMP-SMX
    • potassium sparing diuretics
  • Hyperkalemia results in ↓ ammonia (NH3) synthesis
    • ↓ the capacity to carry acid
  • Treatment depends on the underlying cause
  • Associated with hyperkalemia
  • Urine pH < 5.5


Qbank (1 Questions)

(M2.RL.205) A 40-year-old African American female presents to the emergency room complaining of right-sided, colicky flank pain. Past medical history includes systemic lupus erythematosus, and she has been hospitalized twice for nephrolithiasis in the past year. Serum laboratory values are notable for the following:

Sodium: 138 mEq/L
Potassium: 2.9 mEq/L
Bicarbonate: 15 mEq/L
Chloride: 112 mEq/L

CT scan of the abdomen and pelvis is shown in Figure A. You suspect the patient’s current episode is related to a chronic condition. Which of the following is the most likely diagnosis?
Topic Review Topic
FIGURES: A          

1. Renal tubular acidosis (RTA) type 1
2. Renal tubular acidosis (RTA )type 2
3. Renal tubular acidosis (RTA) type 4
4. Hartnup syndrome
5. Fanconi’s syndrome

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