CYSTINURIA: An Introduction for Patients

What is Cystinuria and Who Gets It? Cystinuria is a rare genetic disorder that results in abnormally high level of cystine in the urine. High levels of cystine in the urine predispose to kidney stone formation, so patients are diagnosed when they present with kidney stones. The featured image shows the first such stone. Much of what is known about human genetic disorders is summarized in a remarkable resource which some of you might want to consult. Here are some salient facts about the disease. Cystinuria occurs in 1 in 7,000 people worldwide. As the disorder is genetic, there is variability in its occurrence based on who your ancestors were. For example, it occurs in 1 in 100,000 people in … Continued


The featured image points to a widespread idea now on the web concerning how cola drinks might promote kidney stone passage. It has been called the ‘Coke Treatment for Kidney Stones.‘ Fluids are valuable for all stone formers, but the suggested usage may not be ideal and this post points out some of the drawbacks. OUR PATIENT A few months ago, a delightful 71-year-old woman presented to our clinic for a metabolic evaluation to try to stop her chronic kidney stones. She passed her first kidney stone about 5 years ago. A year later she developed another kidney stone, which required shockwave lithotripsy therapy. Ultimately her stone was analyzed and she was told it was a “calcium stone.” Over the following few years, … Continued