Renal tubular acidosis history and symptoms

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] ; Associate Editor(s)-in-Chief: Aditya Ganti M.B.B.S. [2]

Overview

History

Symptoms

The clinical manifestations of renal tubular acidosis depend upon the underlying etiology and type of acidosis.

Type of RTA
Distal renal tubular acidosis Recessive form Infancy
  • Severe hyperchloremic metabolic acidosis (serum bicarbonate levels may decrease below 10 mEq/L)
  • Moderate to severe hypokalemia (serum potassium ≤ 3.0 mEq/L)
  • Nephrocalcinosis
  • Vomiting
  • Dehydration
  • Poor growth
  • Rickets
Dominant form Adults
  • Common initial finding is renal stone or nephrocalcinosis
  • Mild or no acidosis
  • Mild to moderate hypokalemia
  • Poor growth
  • Bone disease
  • CKD
Proximal renal tubular acidosis Isolated proximal renal tubular acidosis Transient or sporadic proximal RTA Infants
  • Tachypnea
  • Growth failure
  • Recurrent vomiting
  • Feeding difficulties
  • Persistently low serum bicarbonate level
Autosomal recessive proximal RTA Adults
  • Severe hypokalemic
  • Hyperchloremic, metabolic acidosis
  • Growth retardation
  • Ocular abnormalities such as glaucoma, cataracts, and band keratopathy.
Autosomal dominant proximal RTA
  • Short stature
  • Metabolic acidosis
Fanconi syndrome
  • Hypophosphatemia due to phosphaturia
  • Renal glucosuria
  • Aminoaciduria
  • Tubular proteinuria
  • Growth failure
  • Episodes of hypovolemia due to polyuria
  • Volume depletion
  • Bony abnormalities, including rickets and osteomalacia due to hypophosphatemia and low levels of calcitriol (1,25 dihydroxy vitamin D)
  • Constipation and muscle weakness
Mixed renal tubular acidosis (Type 3) Autosomal recessive Infants
  • Features of both distal and proximal RTA
  • Osteopetrosis
  • Cerebral calcification
  • Mental retardation
  • Bone fragility
  • Growth failure
  • Facial dysmorphism
  • Conductive hearing loss
  • Blindness
Aldosterone deficiency or resistance (Type 4) Resistance Adults
  • Hyperkalemia, hyponatremia and mild acidosis
  • Failure to thrive
  • Hypotension
Deficiency Infants
  • Congenital adrenal insufficiency
  • Aldosterone synthase deficiency
  • Pseudohypoaldosteronism distal and 2 (also known as Gordon syndrome)