Table 1.
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). |