VOIDING DYSFUNCTION IN A MOTHER AND DAUGHTER WITH MITOCHONDRIAL CYTOPATHY

The mitochondrial cytopathies are a family of disorders that result in deficient energy generation in the mitochondrial respiratory chain, l eading to a systemic disease which is most severe in organs with high metabolic demand (muscle, brain, heart, liver, and kidney). Virtually all diseases are due to alterations of genetic material in either the nuclear or mitochondrial genome, the latter of which may be inherited or may arise de novo. Despite the sensitivity of bladder function to n euromuscular alteration, clinical and urodynamic voiding patterns asso ciated with mitochondrial cytopathies have not been explored in medica l literature. We present a mother and daughter with the Neuropathy, At axia and Retinitis Pigmentosa (NARP) syndrome, a mitochondrial myopath y resulting from mutation of base 8993 in the mitochondrial genome, an d discuss clinical and urodynamic findings.