National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Gitelman syndrome


Other Names:
Potassium and magnesium depletion; Hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria; Familial hypokalemia-hypomagnesemia; Potassium and magnesium depletion; Hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria; Familial hypokalemia-hypomagnesemia; Gitelman's syndrome See More
Categories:
Gitelman syndrome is a kidney function disorder that causes an imbalance of charged atoms (ions) in the body, including ions of potassium, magnesium, and calcium.[1] It is usually diagnosed during late childhood or adulthood.[2] More common symptoms include fatigue, salt craving, thirst, frequent urination, muscle cramping, muscle weakness, dizziness, tingling or numbness, low blood pressure, and heart palpitations.[3] Gitelman syndrome can be caused by changes (mutations) in the SLC12A3 or CLCNKB genes and is inherited in an autosomal recessive manner.[1][4] Treatment may include supplementation of potassium and magnesium, and a high sodium and high potassium diet.[2]
Last updated: 2/22/2018
Signs and symptoms of Gitelman syndrome tend to present in adolescents and adults, but occasionally present in infants and young children. Signs and symptoms in children and adults vary, but may include:

A preference for salty foods (salt craving)
Muscle weakness
Fatigue
Limited sports performance or endurance
Episodes of fainting
Cramps
Muscle spasms
Numbness or tingling (such as of the face)
Growth delay
Delayed puberty
Short stature
Excessive thirst
Abdominal pain

Adults with Gitelman syndrome may also experience dizziness, vertigo, excessive amount of urine, urinating more at night, heart palpitations, joint pain, and vision problems.[3]

Other possible symptoms include low blood pressure, a painful joint condition called, chondrocalcinosis, prolonged QT interval (a rare heart problem that may cause irregular heartbeat, fainting, or sudden death), episodes of elevated body temperature, vomiting, constipation, bed wetting, and paralysis.[3] Additional rare symptoms have been described in single cases.[3] 
Last updated: 2/22/2018

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 83 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Hypokalemia
Low blood potassium levels
0002900
30%-79% of people have these symptoms
Abdominal pain
Pain in stomach
Stomach pain
[ more ] 		0002027
Failure to thrive
Weight faltering
Faltering weight
[ more ] 		0001508
Hypomagnesemia
Low blood magnesium levels
0002917
Low-to-normal blood pressure 0002632
Muscle weakness
Muscular weakness
0001324
Prolonged QT interval 0001657
5%-29% of people have these symptoms
Delayed puberty
Delayed pubertal development
Delayed pubertal growth
Pubertal delay
[ more ] 		0000823
Enuresis 0000805
Hypermagnesemia
High blood magnesium levels
0002918
Hypocalcemia
Low blood calcium levels
0002901
Insulin resistance
Body fails to respond to insulin
0000855
Metabolic alkalosis 0200114
Muscle spasm 0003394
Nausea and vomiting 0002017
Nocturia 0000017
Proteinuria
High urine protein levels
Protein in urine
[ more ] 		0000093
Renal potassium wasting 0000128
Salt craving 0030083
1%-4% of people have these symptoms
Abnormal T-wave 0005135
Arthralgia
Joint pain
0002829
Blurred vision 0000622
Cerebral calcification
Abnormal deposits of calcium in the brain
0002514
Chondrocalcinosis
Calcium deposits in joints
0000934
Constipation 0002019
Decreased urinary potassium 0012364
Diabetic ketoacidosis 0001953
Diarrhea
Watery stool
0002014
Excessive daytime sleepiness 0002189
Focal segmental glomerulosclerosis 0000097
Focal seizures, afebril 0040168
Gout 0001997
Graves disease 0100647
Hashimoto thyroiditis 0000872
Headache
Headaches
0002315
Hyperhidrosis
Excessive sweating
Increased sweating
Profuse sweating
Sweating
Sweating profusely
Sweating, increased
[ more ] 		0000975
Insomnia
Difficulty staying or falling asleep
0100785
Iron deficiency anemia 0001891
Maternal diabetes
gestational diabetes
0009800
Mitochondrial encephalopathy 0006789
Myalgia
Muscle ache
Muscle pain
[ more ] 		0003326
Neoplasm of the pancreas
Cancer of the pancreas
Pancreatic tumor
[ more ] 		0002894
Palpitations
Missed heart beat
Skipped heart beat
[ more ] 		0001962
Paralysis
Inability to move
0003470
Parathyroid adenoma 0002897
Paresthesia
Pins and needles feeling
Tingling
[ more ] 		0003401
Pericardial effusion
Fluid around heart
0001698
Polydipsia
Extreme thirst
0001959
Primary hyperaldosteronism 0011736
Prolonged PR interval 0012248
Prominent U wave 0025072
Raynaud phenomenon 0030880
Renal Fanconi syndrome 0001994
Renal tubular acidosis
Accumulation of acid in body due to kidney problem
0001947
Respiratory distress
Breathing difficulties
Difficulty breathing
[ more ] 		0002098
Rhabdomyolysis
Breakdown of skeletal muscle
0003201
Scleroderma 0100324
Seizure 0001250
ST segment depression 0012250
Syncope
Fainting spell
0001279
Tinnitus
Ringing in ears
Ringing in the ears
[ more ] 		0000360
Tubulointerstitial nephritis 0001970
Type I diabetes mellitus
Type 1 diabetes
Type I diabetes
[ more ] 		0100651
Type II diabetes mellitus
Noninsulin-dependent diabetes
Type 2 diabetes
Type II diabetes
[ more ] 		0005978
Urinary incontinence
Loss of bladder control
0000020
Varicose veins 0002619
Ventricular fibrillation 0001663
Ventricular tachycardia 0004756
Vertigo
Dizzy spell
0002321
Percent of people who have these symptoms is not available through HPO
Ataxia 0001251
Autosomal recessive inheritance 0000007
Fatigue
Tired
Tiredness
[ more ] 		0012378
Generalized muscle weakness 0003324
Hypocalciuria
Low urine calcium levels
0003127
Hypokalemic alkalosis 0001949
Hypotension
Low blood pressure
0002615
Increased circulating renin level
Elevated blood renin level
0000848
Juvenile onset
Signs and symptoms begin before 15 years of age
0003621
Polyuria
Increased urine output
0000103
Recurrent fever
Episodic fever
Increased body temperature, episodic
Intermittent fever
[ more ] 		0001954
Renal magnesium wasting 0005567
Tetany
Intermittent involuntary muscle spasm
0001281
Vomiting
Throwing up
0002013
Showing of 83 |
Last updated: 7/1/2020
Gitelman syndrome is inherited in an autosomal recessive manner.[4] This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a:
  • 25% (1 in 4) chance to be affected
  • 50% (1 in 2) chance to be an unaffected carrier like each parent
  • 25% chance to be unaffected and not be a carrier
Last updated: 7/11/2016
A diagnosis of Gitelman syndrome may be suspected in children and adults with characteristic symptoms. A number of blood and urine tests aid in the diagnosis of Gitelman syndrome, such as:[3][4]  

Potassium urine test
Blood gases
Blood tests to measure magnesium, aldosterone, and renin
Urine analysis for sodium, potassium, and calcium

Common blood and urine abnormalities found in Gitelman syndrome, include:[4]  

Low levels of potassium in the blood (hypokalemia)
Metabolic alkalosis (too much base in the body)
Low magnesium in the blood (hypomagnesemia)
Low levels of calcium in the urine (hypocalciuria)

Anorexia, bulimia, chronic diarrhea, vomiting, and long term use of laxatives or diuretics can cause similar signs and symptoms. Before a diagnosis of Gitelman syndrome is made these conditions must be ruled out.[5] A careful review of the patient and family health histories, as well as renal ultrasound findings can be helpful in ruling out other causes. 

Genetic testing can confirm a diagnosis of Gitelman syndrome. Tools for finding genetic testing for Gitelman syndrome are available below.
Last updated: 2/22/2018

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
  • Orphanet lists international laboratories offering diagnostic testing for this condition.
The mainstay treatment of Gitelman syndrome involves careful monitoring, high-sodium and potassium diet, and oral potassium and magnesium supplements. Intravenous magnesium and/or potassium may be needed if symptoms are severe. People who have low potassium levels despite supplementation and diet, may benefit from potassium-sparing diuretics, renin angiotensin system blockers, pain medications, and/or nonsteroidal anti-inflammatory drugs (NSAIDs).[3][4] 

The Blanchard A et al., 2017 consensus guideline offers detailed treatment information, including information on drug selection, dosing recommendations, and a listing of drugs that can cause adverse effects in people with Gitelman syndrome. 

Lastly, people with Gitelman syndrome should have a thorough heart work-up. People with Gitelman syndrome and a prolonged QT interval should avoid drugs that prolong the QT interval. The SADS Foundation offers a tool for learning more about what drugs to avoid.[4]
Last updated: 2/27/2018
The long-term outlook (prognosis) for people with Gitelman syndrome is generally very good.[2][6][7] However, the symptoms and severity can vary from person to person. Some people do not develop any symptoms, while others develop chronic issues that can impact their quality of life.[4] Weakness, fatigue and muscle cramping can affect daily activities in some people with Gitelman syndrome.[2][4][6] In general, while the underlying condition does not appear to be progressive, complications can arise, especially if care recommendations are not followed.

Progressive renal insufficiency is extremely rare.[8] Renal function is usually maintained despite long-term hypokalemia (low potassium), but progression to chronic renal insufficiency has rarely been reported.[2][8]

Some people with Gitelman syndrome may be at risk of developing cardiac arrhythmias. Those with severe hypokalemia are more susceptible to cardiac arrhythmias, which can be life-threatening when joined with severe hypomagnesemia (low magnesium) and alkalosis.[6] Therefore, an in-depth cardiac work-up is strongly recommended to identify which people with Gitelman syndrome may be at risk.[6][7] Competitive sports should be avoided because sudden death can be precipitated by intense physical activity that induces potassium and magnesium loss by sweating.[6]
Last updated: 7/11/2016

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Bartter syndrome (especially type III, caused by mutation in CLCNKB) can be clinically indistinguishable from GS. Mutation in the HNF1B can mimic the electrolyte abnormalities (particularly hypomagnesemia) encountered in GS. Biochemical abnormalities are identical in EAST/SESAME syndrome, but the extra renal features allow it to be distinguished from GS. Chronic thiazide use can cause an acquired GS-like clinical picture.
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Gitelman syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
  • The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, enter the disease name in the "Text Search" box. Then click "Submit Query".

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Organizations Providing General Support

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Merck Manual for health care professionals provides information on Gitelman syndrome.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Gitelman syndrome. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

  • The Orphanet Journal of Rare Diseases has published an article with information on this condition. This journal is affiliated with the Orphanet reference portal for information on rare diseases and orphan drugs.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Gitelman syndrome. Genetics Home Reference. February 2011; http://ghr.nlm.nih.gov/condition/gitelman-syndrome.
  2. Nine VAM Knoers and Elena N Levtchenko. Gitelman syndrome. Orphanet Journal of Rare Diseases. 2008; 3:22:http://www.ojrd.com/content/3/1/22.
  3. Blanchard A, Bockenhauer D, Bolignano D, Calò LA, Cosyns E, Devuyst O, Ellison DH, Karet Frankl FE, Knoers NV, Konrad M, Lin SH, Vargas-Poussou R. Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. Kidney Int. 2017 Jan; 91(1):24-33. http://www.kidney-international.theisn.org/article/S0085-2538(16)30602-0/fulltext. Accessed 2/22/2018.
  4. Klemmer PJ. Gitelman Syndrome. National Organization for Rare Disorders (NORD). 2015; http://rarediseases.org/rare-diseases/gitelman-syndrome/.
  5. Emmett M, Ellison D. Bartter and Gitelman syndromes. In: Sterns RH, Forman JP. UpToDate. Waltham, MA: UpToDate; Last updated February 7, 2018; Accessed 2/22/2018.
  6. Graziani G, Fedeli C, Moroni L, Cosmai L, Badalamenti S, Ponticelli C. Gitelman syndrome: pathophysiological and clinical aspects. QJM. October, 2010; 103(10):741-748. https://www.ncbi.nlm.nih.gov/pubmed/20650971.
  7. V.V.A.M. Knoers, Elena Levtchenko. Gitelman syndrome. Orphanet. July, 2008; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=358.
  8. Lee JH, Lee J, Han JS. Gitelman's syndrome with vomiting manifested by severe metabolic alkalosis and progressive renal insufficiency. Tohoku J Exp Med. 2013; 231(3):165-169. https://www.ncbi.nlm.nih.gov/pubmed/24162365.