Two Neonates with Bartter Syndrome.

Tehreem Afzal; Sana Fatima; Iqtada Haider Shirazi; Alia Halim

Author(s)

Tehreem Afzal Children hospital, Pakistan Institute of Medical Sciences, Islamabad,

Sana Fatima Children hospital, Pakistan Institute of Medical Sciences, Islamabad,

Iqtada Haider Shirazi Children hospital, Pakistan Institute of Medical Sciences, Islamabad,

Alia Halim Children hospital, Pakistan Institute of Medical Sciences, Islamabad,

Abstract

Bartter syndrome is an autosomal recessive disorder caused by gene mutations that involve hypokalaemia, hypochloraemia and metabolic alkalosis along with raised serum renin, hyperaldosteronism and normal blood pressure. We report two cases of neonatal Bartter syndrome. Case 1 was a product of non-consanguineous marriage and mother had unexplained polyhydramnios in pregnancy while case 2 was a product of consanguineous marriage. Both cases were diagnosed based on hypokalaemia, hypochloraemia and metabolic alkalosis along with elevated serum renin and aldosterone levels. Case 1 positively responded to indomethacin while case 2 had Protein C and S deficiency and sepsis as coexisting diseases and thus could not be given indomethacin and expired. Regular antenatal visits can help in diagnosis of the syndrome particularly if u ne x pl a ine d p ol y hy dr am ni o s i s i nves tig at ed.

Publication Details

Page(s) 1721-1723

DOI DOI not available

Published Journal: Journal of Pakistan Medical Association, Volume: 68, Issue: 11, Year: 2018

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Keywords

polyhydramnios, serum renin, serum aldosterone

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