title: Paradoxical hypertension and salt wasting in Type II Bartter syndrome.
abstract: Ante/neonatal Bartter syndrome (BS) is a rare hereditary disorder. It is characterized by renal salt wasting, hypokalaemic metabolic alkalosis, high renin and aldosterone but normal blood pressure. We report a low birth weight newborn baby who presented with repeated apnoea shortly after birth as well as hyponatraemia, hypochloraemia, hyperkalaemia and metabolic acidosis. Her biochemical features mimicked pseudohypoaldosteronism but with initial hypertension, which had not been described in BS. Her subsequent genetic study confirmed two novel heterozygous mutations in the Exon 5 of KCNJ1 compatible with Type II BS.
authors.affiliation: Department of Paediatrics, Queen Elizabeth Hospital, Hong Kong SAR, China.
authors.forename: Winnie Kwai-Yu
authors.initials: WK
authors.lastname: Chan
authors.affiliation: Department of Anatomical and Cellular Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong SAR, China.
authors.forename: Ka Fai
authors.initials: KF
authors.lastname: To
authors.affiliation: Department of Anatomical and Cellular Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong SAR, China.
authors.forename: Joanna H M
authors.initials: JH
authors.lastname: Tong
authors.affiliation: Department of Paediatrics, Queen Elizabeth Hospital, Hong Kong SAR, China.
authors.forename: Chi Wai
authors.initials: CW
authors.lastname: Law
keywords: Bartter syndrome; Hypertension