WHEREAS, Studies have demonstrated cystinuria patients have
worse health-related quality of life than the general
population, specifically in areas of general health, bodily pain
and mental health; and
WHEREAS, Cystinuria patients may suffer from life-threatening
complications, such as hypertension, renal insufficiency, end
stage renal disease and the need for a kidney transplant; and
WHEREAS, The majority of cystinuria patients forming
recurrent stones develop some form of chronic kidney disease in
their lifetime; and
WHEREAS, There is no cure for Cystinuria, treatment options
significantly reduce medically necessary surgeries and some
patients can live a stone-free life; and
WHEREAS, Cystinuria can be diagnosed from analysis of a 24-
hour urine test; and
WHEREAS, Detection may be improved by increased education and
screening, as many patients do not receive a diagnosis until
after enduring one or more stone episodes; and
WHEREAS, Early diagnosis is important to the long-term
management of a cystinuria, which can potentially limit
permanent kidney damage and preserve maximal kidney function;
and
WHEREAS, One in every 10,000 Americans are believed to be
genetically at risk for cystinuria and there are 30 known cases
of cystinuria in Pennsylvania; and
WHEREAS, Cystinuria has been documented as a leading risk
factor for one of the top most common forms of kidney stones;
and
WHEREAS, Kidney stone experts cite the economic burden in the
United States for providing care for individuals of working age
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