Bartter’s syndrome type II due to a novel mutation in KCNJ1 gene presenting in adulthood as recurrent hypokalaemic periodic paralysis

Sharon Kandari; Rohit Puri; Chandrashekar Cheluvaiah; Anshuman Biswal; Arshdeep Singh; Parul Ahlawat

doi:10.18203/2320-6012.ijrms20242661

Authors

Sharon Kandari Department of Nephrology, All India Institute of Medical Science, Rishikesh, Uttarakhand, India
Rohit Puri Department of Nephrology, All India Institute of Medical Science, Rishikesh, Uttarakhand, India
Chandrashekar Cheluvaiah Department of Nephrology, All India Institute of Medical Science, Rishikesh, Uttarakhand, India
Anshuman Biswal Department of Nephrology, All India Institute of Medical Science, Rishikesh, Uttarakhand, India
Arshdeep Singh Department of Nephrology, All India Institute of Medical Science, Rishikesh, Uttarakhand, India
Parul Ahlawat Department of Nephrology, All India Institute of Medical Science, Rishikesh, Uttarakhand, India

DOI:

https://doi.org/10.18203/2320-6012.ijrms20242661

Keywords:

Bartter’s syndrome type II, KCNJ1 gene, Medullary nephrocalcinosis

Abstract

Bartter’s syndrome affects salt reabsorption transporters in Henle's loop's thick ascending limb (TAL). Bartter’s 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’s syndrome type II due to a novel mutation in the KCNJ1 gene manifesting with bilateral medullary nephrocalcinosis and recurrent hypokalaemic periodic paralysis.

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