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Disease Profile
Bartter syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Unknown
Age of onset
Antenatal
ICD-10
E26.8
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Potassium wasting; Bartter's syndrome; Hypokalemic alkalosis with hypercalciuria
Categories
Metabolic disorders
Summary
Bartter
In some cases, Bartter syndrome becomes apparent before birth. The disorder can cause polyhydramnios, which is an increased volume of fluid surrounding the fetus (amniotic fluid). Polyhydramnios increases the risk of premature birth.
Beginning in infancy, affected individuals often fail to grow and gain weight at the expected rate (failure to thrive). They lose excess amounts of salt (sodium chloride) in their urine, which leads to dehydration, constipation, and increased urine production (polyuria). In addition, large amounts of calcium are lost through the urine (hypercalciuria), which can cause weakening of the bones (osteopenia). Some of the calcium is deposited in the kidneys as they are concentrating urine, leading to hardening of the kidney
Two major forms of Bartter syndrome are distinguished by their age of onset and severity. One form begins before birth (antenatal) and is often life-threatening. The other form, often called the classical form, begins in early childhood and tends to be less severe. Once the genetic causes of Bartter syndrome were identified, researchers also split the disorder into different types based on the
This disease summary is from MedlinePlus Genetics, an online health information resource from the National Institutes of Health.
Symptoms
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.[2][3] Affected newborns may experience excessive urination (polyuria) and life-threatening episodes of fever and dehydration. Vomiting and diarrhea may also occur. Some affected infants have distinctive facial features (triangular face, prominent forehead, large eyes, protruding ears, and drooping mouth), failure to thrive, delayed growth, and/or
Classical Bartter syndrome typically becomes apparent in childhood and is characterized by muscle weakness, cramping, spasms, and fatigue. Excessive thirst (polydipsia), excessive urination and the need to urinate at night (nocturia) may also be present. This can lead to dehydration. Some children crave salt. Additional symptoms include constipation, vomiting, elevated body temperature, growth delay and
Some individuals with Bartter syndrome have significant electrolyte imbalances which can lead to irregular heartbeats (cardiac arrhythmias). This can increase the risk for sudden cardiac arrest. Another complication is excessive levels of calcium in the kidneys (nephrocalcinosis). This can lead to blood in the urine, vomiting, and fever. Over time, this calcium buildup can affect kidney function.[1]
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Abnormality of metabolism/homeostasis |
Laboratory abnormality
Metabolism abnormality
[ more ] |
0001939 |
5%-29% of people have these symptoms | ||
Hyperparathyroidism |
Elevated blood parathyroid hormone level
|
0000843 |
Hypocalciuria |
Low urine calcium levels
|
0003127 |
Hypomagnesemia |
Low blood magnesium levels
|
0002917 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormal choroid morphology | 0000610 | |
Abnormal retinal vascular morphology |
Abnormality of retina blood vessels
|
0008046 |
Abnormal sclera morphology | 0000591 | |
Abnormally large globe |
Increased size of eyes
Large eyes
[ more ] |
0001090 |
0000007 | ||
Chondrocalcinosis |
Calcium deposits in joints
|
0000934 |
Symptoms present at birth
|
0003577 | |
Constipation | 0002019 | |
Decreased glomerular filtration rate | 0012213 | |
Dehydration | 0001944 | |
Diarrhea |
Watery stool
|
0002014 |
Edema |
Fluid retention
Water retention
[ more ] |
0000969 |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Fetal polyuria | 0001563 | |
Fever | 0001945 | |
Frontal bossing | 0002007 | |
Generalized |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
Generalized muscle weakness | 0003324 | |
Global developmental delay | 0001263 | |
Global glomerulosclerosis | 0004737 | |
Hydrops fetalis | 0001789 | |
Hyperactive renin-angiotensin system | 0000841 | |
Hyperaldosteronism |
Elevated plasma aldosterone
Increased aldosterone
Increased aldosterone production
[ more ] |
0000859 |
Hypercalcemia |
High blood calcium levels
Increased calcium in blood
[ more ] |
0003072 |
Hypercalciuria |
Elevated urine calcium levels
|
0002150 |
Hyperchloriduria |
Increased urinary chloride
|
0002914 |
Hypernatriuria | 0012605 | |
Hyperprostaglandinuria |
High urine prostaglandin levels
|
0003527 |
Hypochloremia |
Low blood chloride levels
|
0003113 |
Hypokalemia |
Low blood potassium levels
|
0002900 |
Hypokalemic hypochloremic metabolic alkalosis | 0004909 | |
Hypokalemic metabolic alkalosis | 0001960 | |
Hyponatremia |
Low blood sodium levels
|
0002902 |
Hyporeflexia |
Decreased reflex response
Decreased reflexes
[ more ] |
0001265 |
Hyposthenuria | 0003158 | |
Hypotension |
Low blood pressure
|
0002615 |
Impaired |
0003540 | |
Impaired reabsorption of chloride | 0005579 | |
Increased circulating renin level |
Elevated blood renin level
|
0000848 |
Increased serum prostaglandin E2 | 0003566 | |
Increased urinary potassium | 0003081 | |
Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 |
Low-to-normal blood pressure | 0002632 | |
Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ] |
0000256 |
Macrotia |
Large ears
|
0000400 |
Motor delay | 0001270 | |
Muscle spasm | 0003394 | |
Muscular hypotonia |
Low or weak muscle tone
|
0001252 |
Nephrocalcinosis |
Too much calcium deposited in kidneys
|
0000121 |
Osteopenia | 0000938 | |
Paresthesia |
Pins and needles feeling
Tingling
[ more ] |
0003401 |
Polydipsia |
Extreme thirst
|
0001959 |
Polyhydramnios |
High levels of amniotic fluid
|
0001561 |
Polyuria |
Increased urine output
|
0000103 |
Premature birth |
Premature delivery of affected infants
Preterm delivery
[ more ] |
0001622 |
Prominent for
Cause Bartter
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.[2]
Diagnosis The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Bartter
Antenatal subtypes can be diagnosed before birth (prenatally) when polyhydramnios is present without associated Treatment Treatment of Bartter
Medscape Reference has an article containing additional, detailed information about the management and treatment of Bartter syndrome. Click here to view this information. Related diseasesRelated diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
OrganizationsSupport and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Organizations Supporting this Disease
Organizations Providing General Support
Learn moreThese 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. Where to Start
In-Depth Information
References
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