Search on: GITELMAN SYNDROME 
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Descriptor English:   Gitelman Syndrome 
Descriptor Spanish:   Síndrome de Gitelman 
Descriptor Portuguese:   Síndrome de Gitelman 
Synonyms English:   Familial Hypokalemia Hypomagnesemia
Familial Hypokalemia-Hypomagnesemia
Gitelman's Syndrome
Hypokalemia-Hypomagnesemia, Familial
Hypokalemia-Hypomagnesemia, Primary Renotubular, with Hypocalciuria
Hypomagnesemia-Hypokalemia, Primary Renotubular, with Hypocalciuria
Potassium and Magnesium Depletion
Primary Renotubular, Hypokalemia-Hypomagnesemia with Hypocalciuria
Primary Renotubular, Hypomagnesemia-Hypokalemia with Hypocalciuria
Syndrome, Gitelman
Syndrome, Gitelman's
Tubular Hypomagnesemia Hypokalemia with Hypocalcuria
Tubular Hypomagnesemia-Hypokalemia with Hypocalcuria  
Tree Number:   C12.777.419.815.491
C13.351.968.419.815.491
C16.320.831.491
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
DG diagnostic imaging 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 RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   52125 
Unique Identifier:   D053579 

Occurrence in VHL: 		 

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