Gitelman Syndrome UK
@gitelmansuk
Followers
2K
Following
5K
Media
108
Statuses
7K
Raising awareness of the rare, potentially life-threatening, genetic tubular kidney disorder. A salt-wasting condition which presents with severe low K+ and Mg.
United Kingdom Suffolk
Joined January 2015
Honored to have our abstract published in KI Reports, April 2024 edition on a complex presentation of Gitelmans syndrome. We shall be presenting it at the World Congress of Nephrology, 2024 in Buenos Aires, Argentina #nephrology
#electrolyteimbalance
#worldcongressofnephrology
0
1
2
This is my rare kidney disease- I have Gitelmans-Bartter Syndrome, except the numbers are wrong. If you look at the bottom right corner you'll see another disease, bartter syndrome. Bartter syndrome is an offshoot of gitelmans and both and be be present. Bartter Syndrome is 1 in
3
2
7
"Epidemiology Bartter syndrome is seen in 1 in 1,000,000 individuals and is much less common than Gitelman syndrome." If Gitelmans is considered rare then Bartter syndrome is considered EXTREMELY rare. It is considered life threatening in many cases and almost all of us will get
ncbi.nlm.nih.gov
Bartter syndrome is an autosomal recessive disorder of salt reabsorption resulting in extracellular fluid volume depletion with low/normal blood pressure.[1] It is characterized by several electrol...
1
1
2
Information and awareness leads to better treatment and care in rare diseases. https://t.co/WosSf5EX7R
#awareness #gitelmans #rarerenal #RareDisease #GeneticDisease
0
0
0
Understanding electrolyte balance. The body’s electrical language. Electrolytes such as sodium, potassium, calcium, magnesium, chloride, and phosphate are charged minerals that keep every heartbeat, muscle contraction, and nerve impulse running smoothly. When levels drift too
5
205
798
ECG with low potassium ( hypokalaemia ) note the changes in T and U waves. Cardiac risks in Gitelman Syndrome #gitelmansyndrome #lowpotassium #RareDisease #gitelmans #rarerenal
0
5
16
Clinical and genetic features of #gitelman_syndrome patients with hyperuricemia @CKJsocial #OpenAccess
academic.oup.com
AbstractBackground. Gitelman syndrome (GS) is a rare inherited salt-losing tubulopathy caused by dysfunction of the thiazide-sensitive sodium-chloride cotr
0
1
1
For information, support on Gitelman Syndrome go to https://t.co/Cmf4FRstrU
#GitelmanSyndrome #raredisease #GeneticDisease #rarerenal #lowpotassium
0
0
0
Novel clinical and genetic insights into Gitelman syndrome from 95 Chinese patients. https://t.co/7v9Ei89pTL
0
0
0
Gitelman's and Bartter's syndromes in pregnancy - a systematic review. https://t.co/KAnjXY3PZO
0
0
1
A Case of Gitelman Syndrome Complicated by Growth Hormone Deficiency. https://t.co/ZfO2d0FI6V
#GitelmanSyndrome #raredisease #GrowthHormone
0
0
0
Gitelman Syndrome Presenting With Seizures and Atypical Features: A Case Series. https://t.co/EtMBghJ6DJ
#GitelmanSyndrome #raredisease #rarerenal #Seizures
0
0
0
First case report in China of Gitelman syndrome associated with ileocecal polyps in a child: a case report. https://t.co/COTf5TRYr2
#GitelmanSyndrome #raredisease
0
0
0
⚜️Novel Pathogenic Genotype in SLC12A3Associated to Gitelman Syndrome: A Case Report ⚜️ https://t.co/zcyQFgrP8o
@WileyHealth
#SLC12A3
#Gitelman
onlinelibrary.wiley.com
Gitelman syndrome (GS) is considered one of the most common hereditary renal tubular disorders, characterised by hypokalemia, hypomagnesemia, hypocalciuria, and metabolic alkalosis. The primary...
0
3
5
Novel Pathogenic Genotype in SLC12A3 Associated to Gitelman Syndrome: A Case Report. https://t.co/rgHFSNASWt
#GitelmanSyndrome
0
0
0
Gitelman Syndrome Presenting With Seizures and Atypical Features: A Case Series. https://t.co/EtMBghJ6DJ
#GitelmanSyndrome #rarerenal #raredisease
0
0
1
New Research: Pseudohypoparathyroidism type 1B mimicking gitelman syndrome: diagnostic pitfalls and molecular insights https://t.co/WLCd6zw4bl
#FrontiersIn #Genetics
frontiersin.org
ObjectivePseudohypoparathyroidism type 1B (PHP1B), caused by abnormal methylation of the GNAS gene leading to parathyroid hormone (PTH) resistance, lacks Alb...
0
1
1