Number of the records: 1
Gitelmanov syndróm
Record number d053579 Date 06.06.2025 Type M Topical term Gitelmanov syndróm See also (Later heading) symportéry chloridu sodného
(Skutočné meno) rodina prenášačov rozpustných látok 12, člen 3
(Later heading) Dentova choroba
(Later heading) rodina prenášačov rozpustných látok 12, člen 3
UDC C12.050.351.968.419.815.491C12.200.777.419.815.491C12.950.419.815.491C16.320.831.491 Note An inherited renal disorder characterized by defective NaCl reabsorption in the convoluted DISTAL KIDNEY TUBULE leading to HYPOKALEMIA. In contrast with BARTTER SYNDROME, Gitelman syndrome includes hypomagnesemia and normocalcemic hypocalciuria, and is caused by mutations in the thiazide-sensitive SODIUM-POTASSIUM-CHLORIDE SYMPORTERS. subject heading
Number of the records: 1