Jeck et al. (2001) conducted a study on the clinical data of members of a consanguineous family from Lebanon with hypokalemic salt-losing tubulopathy with chronic renal failure. In the index female case of the family, prenatal course and postnatal renal salt and water wasting suggested the diagnosis of hyperprostaglandin E syndrome/antenatal Bartter syndrome. During the second pregnancy in the family, polyhydramnios and fetal hydrops with ascites and pleural effusions were diagnosed at 17 weeks of gestation. DNA analysis from cultured amniocytes demonstrated linkage to chromosome 1p31 as in the first child. Later, Birkenhager et al. (2001) analyzed one of the patients of Jeck et al. (2001) and identified homozygosity for a 3,096-bp deletion of exons 3 and 4 of the BSND gene.

Brennan et al. (1998) evaluated unique, inbred Bedouin kindred in which sensorineural deafness cosegregates with an infantile variant of the Bartter syndrome phenotype (Landau et al., 1995). Using a DNA-pooling strategy, they screened the human genome and demonstrated linkage of this unique syndrome to chromosome 1p31. The genes for two kidney-specific chloride channels (CLCNKA and CLCNKB) that map at 1p36 and a sodium/hydrogen antiporter (amiloride-sensitive Na(+)-H(+) antiporter or SLC9A1 gene), maps to 1p36.1-p35, were excluded as candidate genes.