Table 4.

Genotype-phenotype correlation when availablea

Mutations% of the WT Activity in the OocyteFirst Episode of PHA (d)Na+ (mmol/L)K+ (mmol/L)PAC (μg/L)Other Organs Involved than KidneyReference
a PAC, plasma aldosterone concentration; to translate μg/L in nmol/L, multiply by 2.771; normal range for neonates, 0.20 to 1.00 μg/L. WT, means wild-type; ND, not determined.
αI68fr0.1%71247.71.87ND106
αI68fr0.1%112611.26.28ND106
αI68fr0.1%812810.915.16ND106
αC133Y13%141478.26.24NDLifton RP, personal communication
αS483frND911610.411.91yes, sweat glands and lung119
αR492stop2%71249.76.50yes, sweat glandsBonny O, manuscript in preparation
αR508stop8%91251014.32yes, lung, salivary and sweat glands106
αS243fr/αS483frND512410.411.15Unknown119
αS243fr/αS483frND41298.44.8yes, sweat glands and lung119
αS562L/αS483frND (<0.1% for S562L)1110611.42.17yes, sweat glands and lung119
βG37S50%191338.21.00ND106
γV543fr/splice site mutationND71168.610.73yes, lungs153