NCIt definition : An inherited disorder caused by mutations in the SLC12A3 gene. It is characterized
by deficient reabsorption of electrolytes in the distal convoluted tubules of the
kidneys. It results in hypochloremic metabolic alkalosis, hypokalemia, hypocalciuria,
and hypomagnesemia.;
Alternative definition : NICHD: An inherited disorder caused by mutations in the SLC12A3 gene, characterized
by deficient reabsorption of electrolytes in the distal convoluted tubules of the
kidneys. It results in hypochloremic metabolic alkalosis, hypokalemia, hypocalciuria,
and hypomagnesemia.;