Diagnosis And Treatment Issues
DD is a tricky condition to diagnose initially. In a typical diagnosis scheme, a patient will be diagnosed as having DD if the following three criteria are met:
(1) the patient has a high protein level in his/her urine;
(2) the patient has excess calcium in his/her urine; and
(3) the patient is prone to developing kidney stones or has other significant kidney problems.
Once this preliminary diagnostic step is carried out, absolute confirmation can come from the later identification of a mutation (or mutations) in either one of the CLCN5 and ORCL1 genes. However, as mentioned above, some DD-affected individuals do not have a mutation in either of these genes, so failure to detect a mutation should not be used alone as evidence to rule out DD in making the diagnosis.
Finally, there is no substantially effective method or drug for treating DD and there is no cure for this condition. Scientists are making efforts, however, to develop gene therapy methods that they believe will cure, or at least alleviate, the symptoms suffered by DD patients.