Inherited syndrome that is similar to Bartter syndrome,
but with normal juxtaglomerular apparatus and abnormalities in the proximal renal
Familial Hypokalemic Alkalosis with Specific Renal
First described by H.G. Gullner in 1979.
Less than 10 cases have been described.
Unknown. Hypokalemia is corrected by magnesium
repletion, suggesting an interrelationship of magnesium and potassium
Clinically evocated by signs of hypokalemia and
confirmed by biologic studies.
Fatigue and muscle cramps are the main features;
they are associated with nausea and intermittent vomiting. Laboratory
findings include hypokalemic alkalosis, abnormal magnesium metabolism,
resistance of blood vessels to angiotensin II, sodium wasting by proximal
tubular defect, elevated plasma renin, and elevated
prostaglandin E2 levels.
Evaluate hypokalemia and hydration
(clinical, electrolytes, creatinine and urea serum levels).
Hypokalemia and dehydration should be
corrected before anesthesia is performed. Central venous catheterization may
lead to cardiac rhythm disorder by direct endocavitary stimulation. Avoid advancement
of the guidewire into the heart during central venous catheter insertion since endocavitary mechanical stimulation of the heart
may easily trigger cardiac arrhythmias in these patients. Close perioperative monitoring of heart rhythm and hemodynamics is recommended.
Care with use of bicarbonate,
insulin, β2-agonists or other drugs that could lower potassium serum levels. Try to avoid drugs that primarily rely on renal function for elimination or dose appropriately.
Bartter Syndrome: Characterized by failure to thrive, growth
deficiency, dwarfism, muscle weakness and cramps, and hypokalemia as a result of
a renal potassium wasting syndrome. Mental retardation has been observed in
some patients. An acid-base imbalance associated with hypokalemic alkalosis
is pathognomonic of the condition. Low potassium levels may result from
hyperaldosteronism. The exact cause is not known, but inheritance as an
autosomal recessive trait has been suggested.
Gitelman Syndrome: Inherited renal tubular defect resulting in
urinary loss of magnesium, sodium, potassium, and chloride with otherwise
Gullner HG, Gill JR Jr, Bartter FC, et al: A familial disorder with
hypokalemic alkalosis, hyperreninemia, aldosteronism, high urinary
prostaglandins and normal pressure that is not Bartter's syndrome. Trans Assoc Am Physicians
Gullner HG, Tiwari JL, Terasaki PI, et al: Genetic linkage between
histocompatibility antigens (HLA) and a new syndrome of familial
hypokalemia. IRCS Med Sci 8:369, 1980.