Late-Onset Bartter Syndrome Type II Due to a Homozygous Mutation in KCNJ1 Gene: A Case Report and Literature Review

Khaled A. Elfert; David S. Geller; Carol Nelson-Williams; Richard P. Lifton; Hassan Al-Malki; Awais Nauman

doi:10.12659/AJCR.924527

30 September 2020 : Case report Qatar

Late-Onset Bartter Syndrome Type II Due to a Homozygous Mutation in KCNJ1 Gene: A Case Report and Literature Review

Unusual clinical course, Rare disease

Khaled A. Elfert^1ABCDEF*, David S. Geller^23ADEF, Carol Nelson-Williams^4ABCDF, Richard P. Lifton^4ACD, Hassan Al-Malki^5AB, Awais Nauman^5ABCDF

DOI: 10.12659/AJCR.924527

Am J Case Rep 2020; 21:e924527

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Figure 1. Sanger sequencing electropherograms. Figure 1 illustrates the Sanger sequencing electropherograms of the PCR fragments using the forward KCNJ1 primer for the patient (A) and the wild-type control (B). The mutant, TTT (Phenylalanine: F), and the wild-type residues, CTT (Leucine: C) are circled.

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Late-Onset Bartter Syndrome Type II Due to a Homozygous Mutation in KCNJ1 Gene: A Case Report and Literature Review

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