Bartter disease type 2
Any Bartter syndrome in which the cause of the disease is a mutation in the KCNJ1 gene.
Also known as: BARTS2, Bartter disease type 2, Bartter syndrome caused by mutation in KCNJ1, Bartter syndrome type 2, Bartter syndrome, type 2, KCNJ1 Bartter syndrome, hyperprostaglandin E syndrome 2, Bartter syndrome antenatal type 2, hypokalemic alkalosis with hypercalciuria antenatal 2.
Category: General
Symptoms associated with Bartter disease type 2
The following symptoms have been associated with Bartter disease type 2 in medical literature. Not everyone experiences the same symptoms.
Constipation
Infrequent or difficult evacuation of feces....
Diarrhea
Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day....
Failure to thrive
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm....
Fever
Body temperature elevated above the normal range....
Generalized muscle weakness
Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature....
Paresthesia
Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause....
Seizure
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence ...
Vomiting
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic...
Tests used to investigate Bartter disease type 2
Healthcare providers may order these tests when evaluating Bartter disease type 2. Test selection is a clinical decision made by a qualified professional.
CBC with Differential
Measures red blood cells, white blood cells, and platelets to help evaluate overall health and detect disorder...
Comprehensive Metabolic Panel (CMP)
Measures 14 substances in the blood to assess kidney and liver function, electrolyte balance, and blood sugar ...
Urinalysis
Examines urine content to help detect urinary tract infections, kidney disease, and diabetes....
Conditions with overlapping symptoms
These conditions share symptoms with Bartter disease type 2, which is why a clinical evaluation is important.
Bartter disease type 1
Bartter disease type 1 is a medical condition that may be associated with various symptoms and signs....
Gitelman syndrome
Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalem...
Idiopathic hypereosinophilic syndrome
Idiopathic hypereosinophilic syndrome is a medical condition that may be associated with various symptoms and ...
MELAS
MELAS is a medical condition that may be associated with various symptoms and signs....
developmental delay, impaired speech, and behavioral abnormalities
developmental delay, impaired speech, and behavioral abnormalities is a medical condition that may be associat...
mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
mitochondrial DNA depletion syndrome 6 (hepatocerebral type) is a medical condition that may be associated wit...
Frequently Asked Questions
What is Bartter disease type 2?
Bartter disease type 2 is a health condition described in medical literature. Any Bartter syndrome in which the cause of the disease is a mutation in the KCNJ1 gene.
What are the symptoms of Bartter disease type 2?
Bartter disease type 2 is associated with 8 symptoms in the medical literature we index, including Constipation, Diarrhea, Failure to thrive, Fever, Generalized muscle weakness, Paresthesia. Symptoms vary widely between individuals.
How is Bartter disease type 2 diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with Bartter disease type 2 include CBC with Differential, Comprehensive Metabolic Panel (CMP), Urinalysis. This information is educational, not a diagnosis.
Is SymptomDatabase.com diagnosing me?
No. SymptomDatabase.com does not provide diagnosis. If you are concerned you may have Bartter disease type 2, please discuss your symptoms with a qualified healthcare provider.