Results
We had a total of 26 patients with a
documented mutation in one of the genes known to be responsible for causing
dRTA. 5 were due to H+ATPase mutations, 19 were due to classic AE1 mutations
(AD inheritance) and 2 had a mutation associated with SAO. 16 (62%) were
female. Mean age in the 3 groups was 32, 46, and 33 in the H+ATPase, AD AE1,
and SAO groups respectively. The baseline serum electrolytes and urine pH are
displayed in table 1;