Other Names for this Disease
- Bartter's syndrome
- Hypokalemic alkalosis with hypercalciuria
- Potassium wasting
- Renal tubular normotensive hypokalemic alkalosis with hypercalciuria
- Salt-losing tubular disorder, Henles loop type
What are the signs and symptoms of Bartter syndrome?
What causes Bartter syndrome?
How is Bartter syndrome inherited?
Is genetic testing available for Bartter syndrome?
How is Bartter syndrome diagnosed?
How might Bartter syndrome be treated?
What is the long term outlook for people Bartter syndrome?
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.
- 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.
- Frassetto LA et al.,. Bartter syndrome: Follow-up. MedScape. 2009; http://emedicine.medscape.com/article/238670-followup#a2651. Accessed 12/7/2011.