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

Patients with renal tubular acidosis can present with acute or chronic onset of symptoms. Patients usually doesn't have a typical history or symptoms. Common symptoms of renal tubular acidosis include vomiting, dehydration and electrolyte abnormalities with acidosis.

History

The significant information that needs to focused in the history of the patient includes

• Onset of symptoms acute or chronic
• Associated symptoms and signs from changes in
  • Pulmonary
  • Cardiovascular
  • Neurologic
  • Musculoskeletal function

Symptoms

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

Type of RTA			Adult/ Infant	Symptoms
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)

Common symptoms

Common symptoms of renal tubular acidosis include:

• Headache
• Lack of energy
• Nausea, and vomiting
• Mental confusion progressing to stupor
• Persistent tachypnea or hyperpnea to compensate
• Musculoskeletal abnormalities
  • Osteomalacia
  • Osteitis fibrosa
  • Rickets
  • O0steomalacia
  • Osteopenia