Gitelman Syndrome

Disease Overview

Summary

Gitelman syndrome, also known as familial hypokalemia-hypomagnesemia, is a rare genetic disorder in which there is a specific defect in kidney function. This defect impairs the kidney’s ability to reabsorb salt and causes changes in various electrolyte concentrations as well as contraction of extracellular fluid volume (thus causing symptoms of dehydration). The electrolytes affected are primarily mineral ions, specifically potassium, calcium, magnesium, sodium and chloride.

Basically, Gitelman syndrome is a salt wasting nephropathy, a kidney condition that causes a loss of sodium (salt) in the kidneys. The symptoms and severity of the disorder can vary greatly from one person to another and can range from mild to severe. In most people, symptoms are only evident in adults, usually delayed until the second decade of life.

Symptoms and severity can even vary greatly among members of the same family. Common symptoms can include episodes of fatigue, muscle weakness and muscle cramps sometimes accompanied by gastrointestinal problems such as abdominal pain, nausea and vomiting. Some people with this syndrome may need to urinate frequently and will pass a large volume of urine (polyuria). This symptom is the result of failure to fully concentrate urine when the body is dehydrated.

Gitelman syndrome is caused by changes (variants) in the SLC12A3 gene. Inheritance is autosomal recessive.

Treatment usually includes lifelong daily supplements of potassium and magnesium, as well as careful monitoring of symptoms.

Introduction

Gitelman syndrome is often discussed along with Bartter syndrome, a group of several disorders characterized by similar defects in kidney function leading to volume depletion and similar symptoms as is seen in Gitelman syndrome. Sometimes known as a variant of Bartter syndrome, Gitelman syndrome can show significant overlap with Bartter syndrome type 3 (also known as classic Bartter syndrome); in some people, it is extremely difficult to distinguish between these disorders. Some researchers believe it is better to consider the Bartter syndrome and Gitelman syndrome as a spectrum of disease rather than distinct disorders.

These disorders may be broadly classified as renal tubulopathies (because certain small tubes within the kidneys are affected), salt-wasting disorders (because affected individuals excrete excess amounts of salt), salt-losing tubulopathies or channelopathies (because the ion channels in the kidneys are affected).

Most medical sources will use specific terminology to describe the electrolyte imbalances that characterize Gitelman syndrome. These terms refer to findings on laboratory tests rather than specific symptoms. Such terms include low levels of potassium in the blood (hypokalemia), low levels of chloride in the blood (hypochloremia), excess alkaline levels in the body (metabolic alkalosis), low levels of magnesium in the blood (hypomagnesemia), low levels of calcium in the urine (hypocalciuria), high levels of renin in the blood (hyperreninemia) and high levels of aldosterone in the blood (hyperaldosteronemia). The latter two laboratory findings, hyperreninemia and hyperaldosteronemia, are appropriate regulatory responses to dehydration caused by salt wasting kidney disease.

• View Full Report Show Less
• Print / Download as PDF

• Next section >

• < Previous section
• Next section >

Synonyms

• familial hypokalemia-hypomagnesemia
• hypomagnesemia-hypokalemia with hypocalciuria

• < Previous section
• Next section >

• < Previous section
• Next section >

Signs & Symptoms

Gitelman syndrome typically becomes noticeable during late childhood (usually over age 6) or early adulthood. The condition can vary a lot, even among members of the same family. Some people might not have symptoms, while others can develop chronic issues that impact their daily life.

Signs and symptoms may include:

• Muscle problems
  • Muscle weakness, cramps and spasms
  • Tetany, a specific type of muscle cramping, affecting the hands, feet, arms, legs, or face, often triggered by hyperventilation during periods of anxiety
  • Fatigue that ranges from mild to severe; in some people, it interferes with daily activities, while others may not experience fatigue at all
  • Muscle aches or pain during symptomatic episodes
  • Loss of sensation or tingling (paresthesia), especially in the face and less commonly in the hands
• Electrolyte imbalance symptoms
  • Excessive thirst (polydipsia) and frequent urination (polyuria) including the need to urinate at night (nocturia)
  • Low blood pressure (hypotension) which can cause dizziness, fainting, or fatigue
  • Salt cravings which often begin in childhood and may be a helpful clue in diagnosing the condition
• Joint issues such as chondrocalcinosis, the accumulation of calcium in the joints, leading to swelling, tenderness and warmth in affected joints
  • This condition is often linked to low magnesium levels (hypomagnesemia) and can be the only symptom in some people
• Digestive problems that can sometimes lead to a misdiagnosis of an eating disorder or abuse of laxatives, causing emotional distress and distrust if a false diagnosis is given and that may include:
  • • Abdominal pain
    • Vomiting or diarrhea
    • Constipation
    • Fever

Measurement of urinary chloride will help differentiate Gitelman syndrome (high urinary chloride) from hypokalemia resulting from other gastrointestinal problems with fluid losses (urine chloride < 10 meQ/L).

Other symptoms that can be severe may include:

• • Seizures which may be one of the initial symptoms that prompt seeking medical attention
  • Irregular heartbeats (cardiac arrhythmias) due to prolonged QT intervals, which if untreated, could lead to sudden cardiac arrest or sudden death
    • The QT-interval is measured on the electrocardiogram and if prolonged, indicates that the heart muscle is taking longer than usual to recharge between beats
  • Breakdown of muscle tissue (rhabdomyolysis), releasing toxins into the bloodstream, potentially causing kidney damage

Less frequently symptoms may include:

• • Blurred vision
  • Dizziness (vertigo)
  • Difficulty coordinating movements (ataxia)

In very rare, severe cases, particularly in male babies, Gitelman syndrome may present with:

• • • Severe low potassium (hypokalemia) and low magnesium (hypomagnesemia)
    • Frequent urination (polyuria)
    • Low muscle tone (hypotonia) and muscle spasms
    • Growth delays or failure to thrive.

High blood pressure (hypertension) can develop later in life, despite low blood pressure early in life. This tends to happen around 55 years of age and while the cause is unknown, it may be linked to prolonged exposure to elevated renin and aldosterone levels, but often occurs in people who even without having this condition, are at risk of having hypertension, such as having diabetes.

Some women experience severe potassium wasting during pregnancy, requiring increased potassium and magnesium supplements.

• < Previous section
• Next section >

• < Previous section
• Next section >

Causes

Gitelman syndrome is caused by changes (pathogenic variants) in the SLC12A3 gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a variant in a gene occurs, the protein product may be faulty, inefficient, absent, or not inserted in a tubule membrane properly. Depending upon the functions of the protein, this can affect many organ systems of the body. In the case of Gitelman syndrome, defective protein structure causes failure to reclaim filtered sodium and chloride (channelopathy).

The SLC12A3 gene produces (encodes) a protein known as thiazide-sensitive NaCl cotransporter (NCC), which helps to transport salts through ion channels in the kidney. Ion channels, which are pores in cell membranes, regulate the movement of electrically charged particles called ions, which include electrolytes such as potassium and sodium ions, in certain structures of the kidneys. Variants in this gene result in abnormal functioning of the NCC protein that transports electrolytes through the ion channels. This abnormal functioning or channel inception in the tubular membrane prevents sodium and chloride (salt) from being reabsorbed (reclaimed) from the distal renal tubule. This causes salt and water wastage (negative balance) and results in volume depletion (dehydration). The kidney attempts to attenuate dehydration by activating the renin angiotensin aldosterone system (RAAS). Hypokalemia is the adverse consequence of RAAS activation. Because salt balance can never be fully achieved; the hypokalemia in Gitelman syndrome can only rarely be corrected.

The human kidney filters 180 liters of serum each day through selective filtration in glomeruli. All but 1-1.5 liters of this glomerular filtrate is selectively reclaimed by renal tubules including the distal convoluted tubule (which functions abnormally in Gitelman syndrome) and the thick ascending limb. Both abnormalities cause salt wasting, and, in turn, symptoms related to dehydration as well as those due to secondary electrolyte disturbances (hypokalemia and hypomagnesemia).

Gitelman syndrome follows autosomal recessive inheritance. Recessive genetic disorders occur when an individual inherits a disease-causing gene variant from each parent. If an individual receives one normal gene and one disease-causing gene variant, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the gene variant and have an affected child is 25% with each pregnancy. The risk of having a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents is 25%. The risk is the same for males and females.

• < Previous section
• Next section >

• < Previous section
• Next section >

Affected populations

Gitelman syndrome affects males and females in equally. The disorder occurs in approximately 1 in 40,000 Caucasian individuals. However, many people may go undiagnosed or misdiagnosed, making it difficult to determine the true frequency of Gitelman syndrome in the general population. The prevalence of individuals with one variant copy of the SLC12A3 gene (known as heterozygotes or carriers) is approximately 1% of European populations. Carriers may have the benefit of a small degree of salt wasting: they have lower blood pressure than the general population. It is more prevalent in the Asian population and is estimated at around 1.7 per 1000 people.

• < Previous section
• Next section >

• < Previous section
• Next section >

Disorders with Similar Symptoms

Symptoms of the following disorders can be similar to those of Gitelman syndrome. Comparisons may be useful for a differential diagnosis.

Bartter syndrome (especially type 3 (also known as classic Batter syndrome), caused by variants in the CLCNKB gene can be almost identical to GS, and some consider Gitelman syndrome to be a milder form of Bartter syndrome. Bartter syndrome is a general term for a group of rare, closely related genetic disorders in which there are specific defects in kidney function. These defects impair the kidney’s ability to reabsorb salt and cause imbalances in various electrolyte and fluid concentrations in the body. Classic Bartter syndrome (cBS) is generally considered less severe than the prenatal form of the condition. It typically shows up in early childhood and causes the kidneys to lose too much salt. Common symptoms include low potassium levels (hypokalemia), an imbalance in blood acidity (metabolic alkalosis), frequent urination (polyuria), excessive thirst (polydipsia) and difficulty gaining weight and growing properly (failure to thrive).

The symptoms of classic Bartter syndrome can overlap with those of prenatal Bartter syndrome or Gitelman syndrome, as all these conditions share issues like low potassium, metabolic alkalosis and increased levels of the hormone aldosterone. While most cases of classic Bartter syndrome start by around 8 months of age, it is rare for the condition to appear in late childhood or adulthood.

Classic Bartter syndrome is caused by variants in the CLCNKB gene, which is responsible for producing a protein called CLC-Kb that plays a key role in helping the kidneys manage chloride into the surrounding tissue. This process is crucial for maintaining the body’s balance of fluids and electrolytes. When the CLCNKB gene is not working correctly, it leads to the symptoms seen in Bartter syndrome. Hypomagnesemia is not found in Bartter syndrome and urinary calcium tends to be high rather than low as seen in Gitelman syndrome. Generally, Bartter syndrome is broken down into five subtypes based on the causative gene. Most subtypes of Bartter syndrome are inherited in an autosomal recessive manner.

Pseudo-Bartter syndrome is a general term that refers to certain conditions that cause the same symptoms and signs of Bartter syndrome and Gitelman syndrome, but in which there is no renal tubular dysfunction. These conditions include the use of certain diuretics, conditions in which frequent vomiting occurs including bulimia and cyclic vomiting syndrome and the abuse of laxatives.

Gitelman syndrome causes metabolic abnormalities resembling treatment with high dosage of thiazide diuretics while the metabolic abnormalities associated with Bartter syndrome resemble the observed with the treatment with high dosage of loop diuretics. Thiazide diuretics and loop diuretics both cause electrolyte imbalances like low potassium (hypokalemia) and low sodium (hyponatremia). Thiazide diuretics increase calcium levels (good for bones) and can cause high blood sugar and gout. Loop diuretics, on the other hand, lower calcium levels, can cause dehydration and may lead to hearing issues (ototoxicity) at high doses.

• < Previous section
• Next section >

• < Previous section
• Next section >

Diagnosis

A diagnosis of Gitelman syndrome is made by looking at specific symptoms, a detailed patient history, a thorough medical evaluation and specialized tests. Doctors may suspect Gitelman syndrome after ruling out other more common causes of low potassium (hypokalemia) and an imbalance in blood acidity (metabolic alkalosis).

• Blood tests are used to check for low levels of electrolytes, specifically low potassium (hypokalemia) and magnesium. Blood tests may also show higher levels of hormones like renin and aldosterone, which help regulate salt and water balance in the body.
• Urine tests are used to measure electrolyte levels to look for:
  • High levels of potassium in the urine, even when potassium is low in the blood
  • Low urine chloride, which may point to other causes like vomiting or diarrhea
  • Low levels of calcium in the urine, a common sign in Gitelman syndrome
• Molecular genetic testing can confirm the diagnosis by identifying changes (variants) in the SLC12A3 gene which are responsible for causing Gitelman syndrome.

Doctors will often use these tests to rule out other conditions with similar symptoms, such as primary hyperaldosteronism, especially if the patient has high blood pressure with low potassium.

• < Previous section
• Next section >

• < Previous section
• Next section >

Standard Therapies

Treatment

The treatment of Gitelman syndrome is directed toward the specific symptoms that are apparent in each affected person. Treatment may require the coordinated efforts of a team of specialists. Pediatricians or general internists, kidney specialists (nephrologists or pediatric nephrologists), cardiologists, social workers and other healthcare professionals may need to systematically and comprehensively plan individual’s treatment. Because this is a rare disease, even well-trained private practice or academic nephrologists may have little experience diagnosing or treating this disease.

Because Gitelman syndrome is a lifelong condition that affects how the kidneys handle salts like sodium, potassium and magnesium, it can lead to imbalances that cause a variety of symptoms. While there is no cure yet, treatment can improve symptoms and quality of life.

For most patients, treatment involves lifelong daily supplements of potassium and magnesium, along with careful monitoring of symptoms.

Treatment may include:

• High salt diet
  • People are encouraged to increase salt intake, especially sodium chloride (table salt) and should also listen to their body’s salt cravings, as this can be a natural signal that more salt is needed to help balance their electrolytes. This helps offset the salt loss caused by the syndrome.
• Potassium supplementation
  • Potassium supplements are essential to correct hypokalemia (low potassium levels).
  • It is important to use potassium chloride (KCl) and no other forms of potassium like gluconate or aspartate, as these can worsen metabolic issues.
  • KCl supplements can be taken as a syrup, mixed with water, or in slow-release tablets. The specific form can be chosen based on patient preference to reduce stomach irritation. It’s best to avoid taking these supplements on an empty stomach.
  • People should aim to eat a high-potassium diet, which includes foods like dried fruits, bananas and leafy greens. These foods can help reduce the need for potassium supplements which can irritate the stomach.
  • If potassium levels become dangerously low, causing symptoms like muscle paralysis, breathing difficulties, or abnormal heart rhythms (arrhythmias), potassium may need to be given intravenously (through a vein).
• Magnesium supplementation
  • Magnesium is another important mineral that needs to be replenished in Gitelman syndrome, as magnesium helps the body better absorb potassium.
  • Magnesium chloride is preferred over magnesium sulfate or oxide, as it is better tolerated and less likely to cause diarrhea.
  • Magnesium should be taken in small doses, 4-6 times a day, to avoid side effects like diarrhea, which can make potassium deficiency worse.
  • For severe cases, especially during muscle cramps or tetany (muscle spasms), magnesium may be administered through an IV in a hospital setting.
• Medications to manage electrolytes
  • Potassium-sparing diuretics, like amiloride (5-10 mg/day) or spironolactone (200-300 mg/day) can help prevent the kidneys from losing too much potassium. These are mild diuretics that are helpful, though they rarely return potassium levels to normal.
  • The goal of these medications is to improve symptoms, not necessarily to achieve perfectly normal blood tests.
  • Aldosterone antagonists or renin-angiotensin system blockers (like ACE inhibitors or ARBs) medication can also be considered in certain patients, though they should be used carefully, especially if the patient has low blood pressure.
• Pain and joint problems (chondrocalcinosis)
  • For people who develop chondrocalcinosis (calcium buildup in the joints causing pain), treatment may involve magnesium supplements, pain relievers, or nonsteroidal anti-inflammatory drugs (NSAIDs) like ibuprofen.
  • In some people, a specific NSAID called indomethacin is used, particularly in children or infants with early and severe forms of the syndrome. Indomethacin helps reduce inflammation and has been used to manage growth deficiencies in young patients.

Even people without symptoms should have annual check-ups with their doctor to monitor their potassium and magnesium levels. They need to be aware of how quickly they can become dehydrated during illnesses that cause vomiting or diarrhea and may require IV fluids in these situations.

Affected people may also undergo heart (cardiac) evaluations to screen for risk factors of heart rhythm problems (arrhythmias), as these can be more common in people with Gitelman syndrome.

If the affected person has a prolonged QT interval or long QT syndrome, an irregular heart rhythm that occurs when the heart’s lower chambers take longer than normal to recharge between beats (that can be seen on an electrocardiogram (ECG), a heart test that measures the electrical activity of the heart) may be recommended. They should avoid medications that can further prolong this heart rhythm (the Sudden Arrhythmia Death Syndromes Foundation provides a list of such drugs).

Because Gitelman syndrome is a genetic condition, genetic counseling can help patients and their families understand the inheritance pattern and risks for future children.

• < Previous section
• Next section >

• < Previous section
• Next section >

Clinical Trials and Studies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Toll-free: (800) 411-1222
TTY: (866) 411-1010
Email: [email protected]

Some current clinical trials also are posted on the following page on the NORD website:
https://rarediseases.org/living-with-a-rare-disease/find-clinical-trials/

For information about clinical trials sponsored by private sources, contact:
www.centerwatch.com

For information about clinical trials conducted in Europe, contact:
https://www.clinicaltrialsregister.eu/

• < Previous section
• Next section >

• < Previous section
• Next section >

References

TEXTBOOKS
Scholl UI, Lifton RP. Molecular Genetics of Gitelman’s and Bartter’s Syndromes and Their Implication for Blood Pressure Variation. In: Genetic Diseases of the Kidney, Lifton RP, Somlo S, Giebisch GH, Seldin DW, editors. 2009; Elsevier, New York, NY. Pp. 229-247.

JOURNAL ARTICLES
Qiao Y, Zhao J, Wu J, Cao L, Song G, Mao J. Clinical and genetic analysis of a case of Gitelman syndrome accompanied with Graves disease and adrenocortical adenoma: A case report. Medicine (Baltimore). 2024 Apr 12;103(15):e37770.  https://pubmed.ncbi.nlm.nih.gov/38608089/

Thimm C, Adjaye J. Untangling the uncertain role of overactivation of the renin-angiotensin-aldosterone system with the aging process based on sodium wasting human models. Int J Mol Sci. 2024 Aug 28;25(17):9332. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11394713/

Zhou L, Chen X, Xiong J, Lei L. A mosaic mutation in the CLCNKB gene causing Bartter syndrome: A case report. Front Pediatr. 2023 Apr 17;11:1034923. https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2023.1034923/full

Al Shibli A, Narchi H. Bartter and Gitelman syndromes: spectrum of clinical manifestations caused by different mutations. World J Methodol. 2015;5:55-61. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4482822/

Seyberth HW. Pathophysiology and clinical presentations of salt-losing tubulopathies. Pediatr Nephrol. 2015;[Epub ahead of print]. https://www.ncbi.nlm.nih.gov/pubmed/26178649

Poudel A. An adolescent with tingling and numbness of hand: Gitelman syndrome. N Am J Med Sci. 2015;7:27-29. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4325394/

Larkins N, Wallis M, McGillivray B, Mammen C. A severe phenotype of Gitelman syndrome with increased prostaglandin excretion and favorable response to indomethacin. Clin Kidney J. 2014;7:306-310. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4377751/

Cotovio P, Silva C, Oliveira N, Costa F. Gitelman syndrome. BMJ Case Rep. 2013;2013. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3645279/

Cruz D. Kidney International 2001 vol 59 pp 710-717 Gitelman syndrome Revisted : An Evaluation of symptoms and health-related quality of life Berry MR, Robinson C, Karet Frankl FE. Unexpected clinical sequelae of Gitelman syndrome: hypertension in adulthood is common and females have higher potassium requirements. Nephrol Dial Transplant. 2013;28:1533-1542. https://www.ncbi.nlm.nih.gov/pubmed/23328711

Cruz AJ, Castro A. Gitelman or Bartter type 3 syndrome? A case of distal convoluted tubulopathy caused by CLCNKB gene mutation. BMJ Case Rep. 2013;2013. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3604527/

Glaudemans B, Yntema HG, San-Cristobal P, et al. Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome. Eur J Hum Genet. 2012;20:263-270. https://www.ncbi.nlm.nih.gov/pubmed/22009145

Balavione AS, Bataille P, Vanhille P, et al. Phenotype-genotype correlation and follow-up in adult patients with hypokalemia of renal origin suggesting Gitelman syndrome. Eur J Endocrinol. 2011;165:665-673. https://www.ncbi.nlm.nih.gov/pubmed/21753071

Seyberth HM, Schlingmannn KP. Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects. Pediatr Nephrol. 2011;26:1789-1802. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3163795/

Vargas-Poussou R, Dahan K, Kahila D, et al. Spectrum of mutations in Gitelman syndrome. JAm Soc Nephrol. 2011;22:693-703. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3065225/

Knoers NV, Levtchenko EN. Gitelman syndrome. Orphanet J Rare Dis. 2008;3:22. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2518128/

Riveira-Munoz E, Chang Q, Godefroid N, et al. Transcriptional and functional analyses of SLC12A3 mutations: new clues for the pathogenesis of Gitelman syndrome. J Am Soc Nephrol. 2007:18:1271-1283. https://www.ncbi.nlm.nih.gov/pubmed/17329572

Kleta R, Bockenhauer D. Bartter syndromes and other salt-losing tubulopathies. Nephron Physiol. 2006;104:73-80. https://www.ncbi.nlm.nih.gov/pubmed/16785747

INTERNET
Gitelman Syndrome. Orphanet. March 2020. Available at:  Orphanet: Gitelman syndrome Accessed Oct 8, 2024.

Ellison DH and Konrad M. Inherited hypokalemic salt-losing tubulopathies: Pathophysiology and overview of clinical manifestations. UpToDate. Jun 03, 2024. Available at: https://www.uptodate.com/contents/bartter-and-gitelman-syndromes Accessed Oct 8, 2024.

Gitelman Syndrome. Online Mendelian Inheritance in Man (OMIM). Baltimore. MD: The Johns Hopkins University; Entry No:263800; Last Update: 09/29/2023. Available at: https://omim.org/entry/263800 Accessed Oct 8, 2024.

Huxel C, Raja A, Ollivierre-Lawrence MD. Loop Diuretics. [Updated 2023 May 22]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK546656/ Accessed Oct 8, 2024.

Akbari P, Khorasani-Zadeh A. Thiazide Diuretics. [Updated 2023 Jan 23]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK532918/ Accessed Oct 8, 2024.

Parmar MS, Muppidi V, Bashir K. Gitelman Syndrome. [Updated 2024 Apr 7]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK459304/ Accessed Oct 8, 2024.

• < Previous section
• Next section >

• < Previous section

Programs & Resources

• Assistance Programs
• Patient Organizations
• More Information

RareCare^® Assistance Programs

NORD strives to open new assistance programs as funding allows. If we don’t have a program for you now, please continue to check back with us.

Additional Assistance Programs

MedicAlert Assistance Program

NORD and MedicAlert Foundation have teamed up on a new program to provide protection to rare disease patients in emergency situations.

Learn more https://rarediseases.org/patient-assistance-programs/medicalert-assistance-program/

Rare Disease Educational Support Program

Ensuring that patients and caregivers are armed with the tools they need to live their best lives while managing their rare condition is a vital part of NORD’s mission.

Learn more https://rarediseases.org/patient-assistance-programs/rare-disease-educational-support/

Rare Caregiver Respite Program

This first-of-its-kind assistance program is designed for caregivers of a child or adult diagnosed with a rare disorder.

Learn more https://rarediseases.org/patient-assistance-programs/caregiver-respite/

Learn more about Patient Assistance Programs >

---

Patient Organizations

American Kidney Fund, Inc.

Email: [email protected]

Related Rare Diseases: Liddle Syndrome, Primary Distal Renal Tubular Acidosis, Focal Segmental Glomerulosclerosis, ...

https://rarediseases.org/organizations/american-kidney-fund-inc/

View Profile >

National Kidney Foundation

Phone: 212-889-2210 Email: [email protected] Fax: 212-689-9261

Related Rare Diseases: Liddle Syndrome, Potter Syndrome, Primary Distal Renal Tubular Acidosis, ...

https://rarediseases.org/organizations/national-kidney-foundation/

View Profile >

NIH/National Institute of Diabetes, Digestive & Kidney Diseases

Phone: 301-496-3583 Email: [email protected]

Related Rare Diseases: Liddle Syndrome, Hepatitis D, Pediatric Crohn’s Disease, ...

https://rarediseases.org/organizations/nih-national-institute-of-diabetes-digestive-kidney-diseases/

View Profile >

Learn more about Patient Organization & Membership >

---

More Information

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

View report

---

Orphanet

Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.

View report

---

OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

View report

---

• < Previous section