- Bartter's syndrome
- Hypokalemic alkalosis with hypercalciuria
- Potassium wasting
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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.
The Human Phenotype Ontology provides the following list of signs and symptoms for Bartter syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.
The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.
The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.
Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
- Bartter's syndrome. NORD. September 23, 2007; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/589/viewAbstract. Accessed 11/5/2011.
- Bartter syndrome. Genetics Home Reference. February 2011; http://ghr.nlm.nih.gov/condition/bartter-syndrome. Accessed 11/5/2011.
- Proesmans W. Threading through the mizmaze of Bartter syndrome. Pediatric Nephrology. July 2006; 21(7):896-902.
- 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.