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Hereditary Salt-wasting tubulopathies
Clinical feature:
Definition: Hereditary salt-wasting tubulopathies, a group of autosomal recessive disorders characterized by hypokalemia, hypotension, and alkalosis due to renal wastage of solutes, includes Bartter and Gitelman syndromes.
History: In 1962, Bartter described a new syndrome characterized by hypokalemia due to renal potassium wastage, alkalosis, elevated plasma aldosterone, and hypertrophy of the juxtaglomerular apparatus. Subsequently hypokalemia associated alkalosis was called Bartter syndrome, but it was not before identifying the molecular background that subtypes, including Gitelman syndrome, could be separated.
Pathogenesis: Different functional alterations in different solute transporters along the distal nephron are responsible for these disorders.
Epidemiology: The prevalence of hereditary renal salt wasting syndromes is somewhere between 1:50,000 and 1:100,000.
Diagnostics:
Differential: Differential diagnosis includes renal tubular acidosis and familial renal disease mimicking endocrine disorders of salt or water wastage.
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