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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.

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Primary Distal Renal Tubular Acidosis; Butler-Albright Syndrome.

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Undetermined. Females are slightly more often affected.

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Autosomal dominant; however, autosomal recessive and multiple dominant forms have been described. The disorder most often occurs sporadically.

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The primary defect is a diminished ability to excrete hydrogen ions as ammonium and titratable acid in the distal renal tubule, despite a low plasma bicarbonate concentration. Acidosis is the result of the inability to excrete the full endogenous load of nonvolatile acids, while the generation of bicarbonate is minimal.

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Anorexia, vomiting, constipation, polyuria, dehydration, and growth retardation are the main symptoms. Nephrocalcinosis is an almost constant finding and may lead to interstitial nephritis and renal failure. Patients are unable to achieve a urine pH below 6.0.

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Onset usually occurs after age 2 years. Failure to thrive is common. Acidosis is responsible for osteomalacia and pathologic fractures (secondary to decreased intestinal calcium resorption), growth retardation, and nephrocalcinosis with possible renal insufficiency. Hyperchloremia, hypokalemia, and low serum bicarbonate are responsible for polyuria. Hypokalemia may be severe enough to cause weakness and periodic paralysis-like symptoms. Twenty-five percent of patients may present as a metabolic emergency. Life-threatening dehydration can be associated with respiratory difficulties, flaccid paralysis, cardiac arrhythmias, coma, and circulatory collapse. Nerve deafness has been described. Despite the potential severity of symptoms, the prognosis is good if treatment is established early enough to prevent renal damage.

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Extensive laboratory tests are required to evaluate electrolyte levels (in blood and urine), acid-base balance, and renal function. Administration of potassium to fully correct hypokalemia is recommended before any correction of acidosis is initiated in order to prevent a further fall in the potassium serum concentration triggered by an increase in plasma pH. Acidosis is corrected with slow administration of sodium bicarbonate. Hypocalcemia often is present, and correction of hypokalemia and acidosis may decrease serum calcium concentration further. Consequently, repeated boluses of intravenous calcium may be required to prevent tetany. Because the disease is congenital, bicarbonate supplements are a lifelong requirement. For patients undergoing anesthesia, replace oral intake with intravenous suppletmentation.

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A central venous line can be useful for evaluating volume status but also for perioperative administration of concentrated electrolyte solutions. Volume expansion with normal saline solutions may paradoxically worsen the acidosis by further promoting renal bicarbonate losses.

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Acidosis and hypovolemia increase the sensitivity to muscle relaxants, so close monitoring of muscle relaxation is mandatory. Administration of thiazide diuretics may exacerbate a preexisting hypokalemia and so must be avoided. Use of succinylcholine is best avoided in the presence of muscle weakness secondary to the risk of a sudden and exaggerated hyperkalemic response.

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De Toni Debré Fanconi Syndrome: Rare acquired or inherited ...

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