- Bartter's syndrome
- Hypokalemic alkalosis with hypercalciuria
- Potassium wasting
Your QuestionMy daughter has very low potassium and after several blood and urine tests, her physician is very careful about a diagnosis until he tries certain medications for four weeks. He has mentioned the name Bartters syndrome and another possible disease which I do not know how to spell. Can you please give me updated information about Bartters syndrome? Can you suggest any additional Web sites? Also can you give me the name of another similar disease with the same loss of potassium?
We have identified the following information that we hope you find helpful. If you still have questions, please contact us.
Questions on this page
- What is the long term outlook for people Bartter syndrome?
- What is Bartter syndrome?
- What are the signs and symptoms of Bartter syndrome?
- What causes Bartter syndrome?
- How is Bartter syndrome inherited?
- How is Bartter syndrome diagnosed?
- Is genetic testing available for Bartter syndrome?
- How might Bartter syndrome be treated?
- What conditions are similar to Bartter syndrome, also causing low potassium levels?
- Where can I find additional, up-to-date information about Bartter syndrome?
- How can I find a genetics professional in my area?
The antenatal forms of Bartter syndrome (types I, II and IV) may first be characterized by abnormally high levels of amniotic fluid surrounding the affected fetus (polyhydramnios); premature delivery; and possibly life-threatening salt (sodium-chloride) loss. Affected newborns may have fever, vomiting, diarrhea, failure to thrive, delayed growth, intellectual disability, and/or distinctive facial features (triangular face, prominent forehead, large eyes, protruding ears, and drooping mouth). Individuals with type IV may also have sensorineural deafness (hearing loss caused by abnormalities in the inner ear).
Classical Bartter syndrome typically becomes apparent in infancy and is characterized by failure to thrive and constipation in the first year of life. Symptoms may include salt craving, fatigue, muscle weakness, growth delay and developmental delay.
Loss of excess sodium chloride through the urine can lead to dehydration, constipation, and increased urine production (polyuria). Loss of excess calcium through the urine (hypercalciuria) can cause weakening of the bones (osteopenia). When this excess calcium becomes deposited in the kidneys, tissue in the kidneys can become hardened (nephrocalcinosis). Low levels of potassium in the blood (hypokalemia) cause the muscle weakness, cramping, and fatigue in affected individuals.
All of these genes are essential for normal kidney function - they are involved in the kidneys' abilities to reabsorb salt. Abnormal changes in these genes impair these abilities, allowing for the loss of excess salt through the urine and also affecting the reabsorption of other things including potassium and calcium. The resulting imbalance of these in the body lead to the signs and symptoms of Bartter syndrome.
Click here to visit the Genetic Home Reference Web site and view an illustration that demonstrates autosomal recessive inheritance.
- Antenatal Bartter syndrome type I
- Antenatal Bartter syndrome type II
- Bartter syndrome type III (Classical Bartter syndrome)
- Bartter syndrome type IVA (Infantile Bartter Syndrome with Sensorineural Deafness)
- Bartter syndrome type IVB
Please note that most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, individuals interested in learning more will need to work with a health care provider or a genetics professional.
eMedicine has an article containing additional, thorough information about the management and treatment of Bartter syndrome. Click here to view this information.
General causes of potassium loss leading to low potassium levels in the blood (hypokalemia) may include chronic kidney failure, diabetic ketoacidosis, diarrhea, excessive sweating, excessive use of laxatives, prescription diuretic (water or fluid pills) use, primary aldosteronism, and vomiting.
Genetic conditions that predispose affected individuals to dehydration and failure to thrive (which occur in individuals with Bartter syndrome) may include nephrogenic diabetes insipidus, cystic fibrosis, pseudohypoaldosteronism, and congenital adrenal hyperplasia. However, laboratory test results usually make differentiating these disorders from Bartter syndrome easy.
The Resource section of our Bartter syndrome Web page provides information and links for several places to obtain additional information about Bartter syndrome. To see all of these resources, click here.
The following online resources can help you find a genetics professional in your community:
- The National Society of Genetic Counselors provides a searchable directory of US and international genetic counseling services.
- The American College of Medical Genetics has a searchable database of US genetics clinics.
- The University of Kansas Medical Center provides a list of US and international genetic centers, clinics, and departments.
- The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care.
- Frassetto LA et al.,. Bartter syndrome: Follow-up. MedScape. 2009; http://emedicine.medscape.com/article/238670-followup#a2651. Accessed 12/7/2011.
- Bartter syndrome. Genetics Home Reference. February 2011; http://ghr.nlm.nih.gov/condition/bartter-syndrome. Accessed 11/5/2011.
- G. Colussi. Bartter syndrome. Orphanet. July 2007; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=112. Accessed 11/5/2011.
- Bartter's syndrome. NORD. September 23, 2007; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/589/viewAbstract. Accessed 11/5/2011.
- Proesmans W. Threading through the mizmaze of Bartter syndrome. Pediatric Nephrology. July 2006; 21(7):896-902.
- Giacomo Colussi. Orphanet encyclopedia. March 2005; http://www.orpha.net/data/patho/Pro/en/Bartter-FRenPro259.pdf. Accessed 11/7/2011.