Transient renal tubular acidosis in infants.
Distal Renal Tubular Acidosis; Transient Renal Tubular
Acidosis (Infantile form).
Defect in urinary acidification with a
reduction in urinary secretion of titratable acid and ammonium associated with
bicarbonate wasting. By definition, this condition is transient and may be
characterized by distal renal tubular acidosis (with or without bicarbonate
wasting) and proximal renal tubular acidosis. Typical biochemical findings
include acidemia, which may be severe, hyperchloremia, and marked base
deficit. The severe acidosis may induce hyperparathyroidism, which in turn
results in hypercalcemia.
The typical clinical picture, in association with the
following biochemical changes, is used to make the diagnosis: metabolic
acidosis, hyperchloremia, hyperparathyroidism and hypercalcemia, large base
deficit, high urinary pH, and reduced renal excretion of titratable acid.
Treatment with alkali replacement results in an improvement in the
hyperchloremia and hypercalcemia. The transient need for alkali replacement
therapy distinguishes this condition from other forms of renal tubular
acidosis in which lifelong treatment may be required.
Lightwood syndrome occurs in neonates and is a
self-limiting condition that rarely requires treatment beyond 18 months.
Males are most commonly affected. Clinical findings include lethargy and
reduced muscle tone, vomiting, constipation, anorexia, failure to thrive,
polyuria, polydipsia, wasting. The clinical and biochemical findings are
reversed by the administration of alkali (up to 25 mEq/kg/day).
Nephrocalcinosis may be a feature, particularly in untreated patients.
Gastroenteritis associated with prolonged dehydration may mimic the
Clinical evaluation should confirm
the absence of any clinical findings in adequately treated patients.
Evaluate serum acid-base and electrolyte status. Serum calcium and
parathyroid hormone activity should be normal. Evaluate renal function,
particularly if there is a history of renal calculi.
Electrolyte and intravascular fluid
status must be corrected prior to administration of anesthesia.
No known specific considerations.
Others diseases associated with
renal tubular acidosis are as follows:
De Toni Debré Fanconi Syndrome: Rare acquired or inherited
condition involving a generalized transport defect in the proximal tubules
with renal losses of glucose, phosphate, calcium, uric acid, amino acids,
and bicarbonates leading to short stature, osteomalacia, and renal failure.
Periodic Paralysis (PP): Congenital abnormality in membrane
electrolyte conductance leading to episodic muscle weakness.
Albright-Butler Syndrome: Patients present with renal tubular
acidosis, nephrocalcinosis, and renal failure. Hypokalemia with muscle
weakness and periodic paralysis is frequent. Polyuria, vomiting, and
dehydration lead to fluid and electrolyte imbalances.
Adenosine Deaminase Deficiency: Heterogeneous systemic disorder
caused by the deficiency of adenosine deaminase resulting primarily in
severe combined (cellular and humoral) immunodeficiency but also systemic
Gitelman Syndrome: Inherited renal tubular defect resulting in
urinary loss of magnesium, sodium, potassium, and chloride with otherwise
Lowe Syndrome: Genetically transmitted polymalformative syndrome
characterized by the association of ocular problems with renal dysfunction