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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dc.contributor.authorKandari, Sen_US
dc.contributor.authorPuri, Ren_US
dc.contributor.authorCheluvaiah, Cen_US
dc.contributor.authorBiswal, Aen_US
dc.contributor.authorSingh, Aen_US
dc.contributor.authorAhlawat, P.en_US
dc.date.accessioned2025-05-12T07:24:50Z
dc.date.available2025-05-12T07:24:50Z
dc.date.issued2024-10
dc.description.abstractBartter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.en_US
dc.identifier.affiliationsDepartment of Nephrology, All India Institute of Medical Science, Rishikesh, Uttarakhand, Indiaen_US
dc.identifier.affiliationsDepartment of Nephrology, All India Institute of Medical Science, Rishikesh, Uttarakhand, Indiaen_US
dc.identifier.affiliationsDepartment of Nephrology, All India Institute of Medical Science, Rishikesh, Uttarakhand, Indiaen_US
dc.identifier.affiliationsDepartment of Nephrology, All India Institute of Medical Science, Rishikesh, Uttarakhand, Indiaen_US
dc.identifier.affiliationsDepartment of Nephrology, All India Institute of Medical Science, Rishikesh, Uttarakhand, Indiaen_US
dc.identifier.affiliationsDepartment of Nephrology, All India Institute of Medical Science, Rishikesh, Uttarakhand, Indiaen_US
dc.identifier.citationKandari 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): 3911-3913en_US
dc.identifier.issn2320-6071
dc.identifier.issn2320-6012
dc.identifier.placeIndiaen_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/246583
dc.languageenen_US
dc.publisherMedip Academyen_US
dc.relation.issuenumber10en_US
dc.relation.volume12en_US
dc.source.urihttps://doi.org/10.18203/2320-6012.ijrms20242661en_US
dc.subjectBartter抯 syndrome type IIen_US
dc.subjectKCNJ1 geneen_US
dc.subjectMedullary nephrocalcinosisen_US
dc.titleBartter抯 syndrome type II due to a novel mutation in KCNJ1 gene presenting in adulthood as recurrent hypokalaemic periodic paralysisen_US
dc.typeJournal Articleen_US
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