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. 2022 Sep 29;33(1):57–60. doi: 10.4103/ijn.ijn_383_21

Table 1.

List of previously reported cases of late-onset Bartter’s syndrome type II

Author Age/Sex eGFR (ml/min) Mutation
Gollasch et al.[6] 43/F 58 Compound heterozygous missense mutation/in Exon 2 of KCNJ1(c. 197T>A and c.875G>A
Hwang L, et al.[7] 35/M 45 Homozygous missense mutation in KCNJ1/(c. 658C>T).
Khandelwal P, et al.[8] 13/F 110 Compound heterozygous missense mutation in/Exon 2 of KCNJ1(c. 146G>A and c.657C>G)
Present Case 34/M 6 Homozygous missense mutation in Exon 2 of/KCNJ1(c.500 G>A).