Bartter抯 syndrome type II due to a novel mutation in KCNJ1 gene presenting in adulthood as recurrent hypokalaemic periodic paralysis
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Date
2024-10
Journal Title
Journal ISSN
Volume Title
Publisher
Medip Academy
Abstract
Bartter抯 syndrome affects salt reabsorption transporters in Henle's loop's thick ascending limb (TAL). Bartter抯 syndrome type II begins in antenatal/neonatal period with an autosomal recessive pattern of inheritance due to mutation in the KCNJ1 gene. Renal disorder begins early. It is a disorder which usually presents in infancy but not in adulthood. We report a case of late onset Bartter抯 syndrome type II due to a novel mutation in the KCNJ1 gene manifesting with bilateral medullary nephrocalcinosis and recurrent hypokalaemic periodic paralysis.
Description
Keywords
Bartter抯 syndrome type II, KCNJ1 gene, Medullary nephrocalcinosis
Citation
Kandari S, Puri R, Cheluvaiah C, Biswal A, Singh A, Ahlawat P.. Bartter抯 syndrome type II due to a novel mutation in KCNJ1 gene presenting in adulthood as recurrent hypokalaemic periodic paralysis . International Journal of Research in Medical Sciences. 2024 Oct; 12(10): 3911-3913