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Bartter syndrome
- Bartter syndrome is a group of very similar kidney disorders that cause an imbalance of potassium, sodium, chloride, and related molecules in the body.In some ...
- Bartter syndrome is a group of rare conditions that affect the kidneys. ... five gene defects known to be associated with Bartter syndrome. The condition is present at birth (congenital). The ...
- ... normal level of aldosterone may be due to: Bartter syndrome (group of rare conditions that affect the kidneys) ...
- ... SLC12A1 gene have been identified in people with Bartter syndrome type I. This form of the disorder is ... Most of the SLC12A1 gene mutations responsible for Bartter syndrome change single protein building blocks (amino acids) in ...
- ... Lifton RP, Simon DB; Yale Gitelman's and Bartter's Syndrome Collaborative Study Group. Gitelman's syndrome revisited: an ... chloride channel gene, CLCNKB, leading to a mixed Bartter-Gitelman phenotype. ... Knoers NV, Levtchenko EN. Gitelman syndrome. Orphanet J Rare Dis. 2008 Jul 30;3: ...
- ... BSND gene have been identified in people with Bartter syndrome type IV. This form of the disorder causes ... abnormalities in the inner ear, which is why Bartter syndrome type IV is also known as antenatal Bartter ...
- ... CLCNKB gene have been identified in people with Bartter syndrome type III. This form of the condition, which is also described as classical Bartter syndrome, begins in childhood and tends to be less ...
- ... a role in normal hearing. Several people with Bartter syndrome have had mutations in both the CLCNKA gene ... a life-threatening form of the disorder called Bartter syndrome type IV. This condition is also known as ...
- ... KCNJ1 gene have been identified in people with Bartter syndrome type II. This form of the disorder causes ... Some of the KCNJ1 gene mutations responsible for Bartter syndrome change single protein building blocks (amino acids) in ...
- ... individuals have features of a kidney disorder called Bartter syndrome in addition to hypocalcemia. These features can include ... sometimes referred to as autosomal dominant hypocalcemia with Bartter syndrome or Bartter syndrome type V.There are two ...