The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormal renal physiology||90%|
|Abnormality of metabolism/homeostasis||90%|
|Abnormality of the choroid||-|
|Abnormality of the retinal vasculature||-|
|Abnormality of the sclera||-|
|Autosomal recessive inheritance||-|
|Decreased glomerular filtration rate||-|
|Failure to thrive||-|
|Generalized muscle weakness||-|
|Hyperactive renin-angiotensin system||-|
|Hypokalemic hypochloremic metabolic alkalosis||-|
|Hypokalemic metabolic alkalosis||-|
|Impaired platelet aggregation||-|
|Impaired reabsorption of chloride||-|
|Increased circulating renin level||-|
|Increased serum prostaglandin E2||-|
|Increased urinary potassium||-|
|Low-to-normal blood pressure||-|
|Reduced renal corticomedullary differentiation||-|
|Renal juxtaglomerular cell hypertrophy/hyperplasia||-|
|Renal potassium wasting||-|
|Renal salt wasting||-|
|Sensorineural hearing impairment||-|
|Small for gestational age||-|
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.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
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.
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My 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? See answer