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Nephrolithiasis is a fairly common stone disease of the kidney.  It is more predominant among male Caucasians than any other ethnic group.  Approximately 1 in 8 will be diagnosed with Nephrolithiasis in their lifetime.  Age of onset could be as early as teen years and as late as fifty years old.  The earlier the onset of the disease, the greater the chance of a recurrence. 


Nephrolithiasis is caused by increased concentrations of calcium, oxalates and uric acid that accumulate in the kidney.  Renal tubular damage may also contribute to stone formation.  Although it originates in the kidney, the stone may get lodged in the urinary tract.  About 80% of the stones, if small, pass spontaneously.  Larger stones are likely to block the flow of urine, and renal failure  and possible loss of kidney function may result if obstruction, caused by the stone, is not cleared within a week.  Symptoms of Nephrolithiasis include sudden, sharp and quite severe pains usually on the sides of the abdomen, nausea, vomiting, frequent urination accompanied with intense pain, and microscopic hematuria (blood in the urine).  Patients may also become hypertensive due to the pain.  A fever maybe an indication of an infection.  It is important for patients to be sufficiently hydrated.  That is the main concern of treatments.  Surgery may be necessary to remove the stone.  Strong pain medication may also be frequently prescribed.


A form of Nephrolithiasis has been traced to a mutation on the X chromosome.  Couples whose families have a history of kidney stone disease and renal failure should consider a new genetic technology called Pre-Implantation Genetic Diagnosis (PGD).  PGD tests an embryo for genetic abnormalities and can determine its gender prior to implantation into the uterus.  Through this, the chances of having an affected child can significantly be reduced.  Couples at risk of having a child with a hereditary disorder should seek the advice of a genetic counselor.  Due to complex inheritance patterns of genetic disorders, they can determine whether PGD will be beneficial.  PGD is also available for a variety of other hereditary disorders and is continually being improved in order to test for more and more genetic diseases.



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Last modified: 06/09/04