Bartter syndrome type 1

Bartter syndrome type 1

A form (OMIM:601678) of Bartter syndrome, a group of autosomal recessive disorders characterised by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalaemic metabolic alkalosis, and varying degrees of hypercalciuria. BS1 is a life-threatening condition beginning in utero, with marked foetal polyuria leading to polyhydramnios and premature delivery, accompanied by marked hypercalciuria leading to nephrocalcinosis and osteopenia.
 
Molecular pathology
Defects of SLC12A1, which encodes a kidney-specific sodium-potassium-chloride co-transporter that plays a key role in regulating ionic balance cell volume and concentrating urine, are a cause of Bartter syndrome type 1.
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References in periodicals archive ?
On the basis of the underlying gene mutation, Bartter syndrome can be classified as Bartter syndrome type 1, type 2, type 3, type 4a and 4b and Gitelman syndrome.
[5] described a mild and late-onset Bartter syndrome type 1 in two brothers of 13 and 15 years of age.
Nevertheless, we cannot fail to note that Bartter syndrome type 1 patient described by Bettinelli and most of the cases described by Bockenhauer carry severe frameshift mutations; likewise, our patient shows a heterozygous nucleotide duplication resulting in a premature truncated protein in the third NKCC2 transmembrane domain.