title: Infantile variant of Bartter syndrome and sensorineural deafness: a new autosomal recessive disorder.
abstract: The infantile variant of Bartter syndrome (IBS) is usually associated with maternal polyhydramnios, premature birth, postnatal polyuria and hypokalemic hypochloremic metabolic alkalosis and a typical appearance. IBS is thought to be an autosomal recessive trait. Several congenital tubular defects are associated with sensorineural deafness (SND). However, an association between the IBS and SND has not been reported so far. Here we describe 5 children of an extended consanguineous Bedouin family with IBS and SND. In 3 of the cases, the typical electrolyte imbalance and facial appearance were detected neonatally. SND was detected as early as age 1 month, suggesting either coincidental homozygotization of 2 recessive genes or a pleiotropic effect of one autosomal recessive gene. This association suggests that evaluation of SND is warranted in every case of IBS.
authors.affiliation: Department of Pediatrics, Soroka Medical Center, Ben Gurion University of the Negev, Beer Sheva, Israel.
authors.forename: D
authors.initials: D
authors.lastname: Landau
authors.forename: H
authors.initials: H
authors.lastname: Shalev
authors.forename: M
authors.initials: M
authors.lastname: Ohaly
authors.forename: R
authors.initials: R
authors.lastname: Carmi
mesh_terms: D000293:Adolescent; D018912:Arabs; D001477:Bartter Syndrome / Q000151:congenital / Q000235:genetics* / Q000503:physiopathology; D003638:Deafness / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree