Lightwood Syndrome

At a glance

This is a medical condition associated with transient renal tubular acidosis with an onset in infancy. It is characterized by the presence of hyperchloremic acidosis, nephrocalcinosis, anorexia, failure to thrive, dehydration, severe constipation, hypotonia, weakness, and severe vomiting. In older children, it is recommended to search for rickets, bone deformities, pathological fractures (special attention during positioning for surgery), and growth retardation.

Synonyms

Lightwood Butler Albright Syndrome; Distal Renal Tubular Acidosis; Transient Renal Tubular Acidosis (Infantile form).

History

This medical condition was first described in 1935 by Dr Reginald C. Lightwood (1898-1985) and subsequently expanded by Dr Fuller Albright (1900-1969), an American Endocrinologist, in 1940. It is often called the Lightwood Butler Albright Syndrome for the contribution to Dr Allan Macy Butler (1894-1986) who was Chief of the Children’s Medical Services in Boston and Professor of Pediatrics at Harvard Medical School. In 1969, Dr Butler received the highest award of the American Pediatric Society.

Pathophysiology

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.

Diagnosis

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.

Clinical aspects

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, and 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 biochemical findings.

Precautions before anesthesia

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.

Anesthetic considerations

Electrolyte and intravascular fluid status must be corrected prior to administration of ...