Gitelman Syndrome UK

Raising awareness of the rare, potentially life-threatening, genetic tubular kidney disorder. A salt-wasting condition which presents with severe low K+ and Mg.

[Gitelman Syndrome UK @gitelmansuk]

Compound Heterozygous SLC12A3 Variants in Gitelman Syndrome Presenting With Ventricular Fibrillation and Cardiac Arrest.
https://t.co/PfDXYhOiRW

[Gitelman Syndrome UK @gitelmansuk]

Serum metabolic profiling analysis of Gitelman syndrome using untargeted metabolomics. https://t.co/W4YESjqUaY

[Gitelman Syndrome UK @gitelmansuk]

A novel variant of SLC12A3 in Gitelman syndrome with hypertension: a case report. https://t.co/Msu1uhlPvi

[Gitelman Syndrome UK @gitelmansuk]

@LoveLipids @AmmousMD @drterrysimpson https://t.co/AvoXiKIN5y

[Gitelman Syndrome UK @gitelmansuk]

https://t.co/Ijtyt8jcK8 for information, support and news for patients and carers and medical staff #rarerenal #GitelmanSyndrome #geneticdisease #BarttersSyndrome

[Gitelman Syndrome UK @gitelmansuk]

@kidneycareuk I’m finding so many patients reaching out for specific specialists in rare kidney diseases like Gitelman Syndrome and Bartters Syndrome, and we need to sign post to consultants who can head up treatment plans, and monitoring. #support

[Nathalia Le Hen @NathaliaLeHen]

✅🅖🅢 Gitelman Syndrome /Familial Hypokalemia-Hypomagnesemia.
👀https://t.co/3IkMfBwlyB
https://t.co/NiQY3IyYzl
https://t.co/sNz4O9e2ic
https://t.co/BsftOhgDvj

[Nikki نيكي @MusingsOfNikki]

I literally never see articles written about my kidney condition, so always nice to see someone taking the time to find out more about it:

https://t.co/5DMyOAJh6G

[inmunoes @inmunoes]

Case Report: Gitelman syndrome with a suspected MEFV- associated autoinflammatory phenotype: diagnostic challenges in a complex case https://t.co/iNy9zPZzs2 #FrontImmunol

[CIMB MDPI @CIMB_MDPI]

Can Gitelman syndrome increase diabetes risk? ⚠️ This review explores how electrolyte imbalances 🧂 affect insulin secretion & sensitivity, shaping glucose metabolism 🔬 Plus, insights on choosing appropriate hypoglycemic therapies 💊
🔗 https://t.co/JTelMEF0F3

[Genetic Alliance UK @GeneticAll_UK]

The latest Action Plan to implement the UK Rare Diseases Framework in England has just been published. Find out more https://t.co/vZiXlwawCv

[RARE Revolution Magazine® @RareRevolutionM]

🧬 People living with a rare disease often wait years for answers.

💜 Equity means every person deserves the same chance to benefit from a treatment for their condition.

👉 Learn more: https://t.co/e2HX63E90A

#RareDiseaseDay #EquityForRare#TreatmentAccess

[National Organization for Rare Disorders (NORD) @RareDiseases]

In a few days, for #RareDiseaseDay, NORD will speak to #Congress about how patient advocacy drives #RareDisease innovation.

Join our Congressional briefing:
📅 Feb 24, 10–11:30AM
📍 Capitol Visitor Center, #DC
🥪 Open to public, lunch provided

RSVP now: https://t.co/EFSKtMJUNG

[Rare Disease Day @rarediseaseday]

What happens when young rare disease advocates from across the world are given the space to speak, connect and lead?

👉 Read the #RaisingYouthVoices2026 article here: https://t.co/lGX8BjstAC

#RareDiseaseDay #PatientAdvocacy

[Genetic Alliance UK @GeneticAll_UK]

This time next week it’s #RareDiseaseDay!

Let’s amplify the voices of the rare community and their experiences of inequity. Raise awareness NOW with our advocacy pack and use your voice to build an equitable future 👉 https://t.co/tuaH3ta2Ob #RareDiseaseDay2026 #Rarequity #RDD

[Ryan @Ue_98]

@md1talk Gitelman Syndrome
يشرب عرق السوس عشان يريحه مؤقتاً لانه يعوض الاملاح الي قاعد يفقدها

[Daniel Montero @ndanmontero]

The clinical presentation, genetic underpinnings, and therapeutic approach to Gitelman syndrome in pediatric patients.

https://t.co/AYe9q9lMA1

[Rashmi Verma @RashmiV33169864]

Gitelman syndrome

[Arnaud Mercier - #Entrepreneur #Versailles @arnaudmercier]

Introduction: Gitelman syndrome (GS) is a rare inherited salt-losing tubulopathy with limited clinical data. Methods: Surveys were conducted with GS physicians in Europe and patients with GS in the Netherlands to compare findings with the general population. Results: Data from 587 patients (25% pediatric) across 13 countries showed 93% were genotyped, with 94% having variants in SLC12A3. Children with GS were shorter and lighter than the general population, with lower bodyweight persisting into adulthood. The sex distribution was uneven, with more males in childhood and more females in adulthood. Patients with GS had the expected electrolyte disorders as well as significantly lower blood phosphate levels. Positive correlations were found between blood magnesium and potassium, and potassium and aldosterone. Physicians reported muscle cramps, salt craving, and muscle weakness as most common GS symptoms. Patients with GS scored worse than the general population in fatigue, physical, and cognitive function; and ranked salt craving and polydipsia-polyuria as the most severe symptoms. Symptom burden was higher in adult females and patients with lower blood magnesium. Treatment mainly consisted of potassium (94%) and magnesium (50%) supplementation. Potassium-sparing medication (used in 33%) slightly increased blood potassium levels (3.2 vs. 3.1 mmol/l). Adult patients with GS had a high prevalence of chondrocalcinosis (15%) and elevated blood cell counts (26%). Compared with the general population, adult patients with GS had lower rates of chronic kidney disease (CKD) and hypertension, a similar rate of diabetes, but a higher rate of albuminuria or proteinuria (28%). Conclusions: These findings provide new insights into GS, highlight disease burden, and suggest areas for future research. https://t.co/4zNl5Dtp6G

[Dr.Priyanshu Jaseja @PJaseja]

3 tubular disorders- with metabolic alkalosis
Bartter syndrome
Gitelman syndrome
Liddle syndrome
#MedTwitter