Search on: GITELMAN SYNDROME 
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Descriptor English:   Gitelman Syndrome 
Descriptor Spanish:   Síndrome de Gitelman 
Descriptor Portuguese:   Síndrome de Gitelman 
Tree Number:   C12.777.419.815.491
C13.351.968.419.815.491
C16.320.565.861.491
C18.452.648.861.491
Definition English:   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. 
See Related English:   Solute Carrier Family 12, Member 3
 
History Note English:   2007 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DH diet therapy DT drug therapy
EC economics EM embryology
EN enzymology EP epidemiology
EH ethnology ET etiology
GE genetics HI history
IM immunology ME metabolism
MI microbiology MO mortality
NU nursing PS parasitology
PA pathology PP physiopathology
PC prevention & control PX psychology
RA radiography RI radionuclide imaging
RT radiotherapy RH rehabilitation
SU surgery TH therapy
US ultrasonography UR urine
VE veterinary VI virology
Record Number:   52125 
Unique Identifier:   D053579 

Occurrence in VHL: 		 

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