Stone disease: cystine stones

Cystine stones are yellow.
Cystine stones are usually round or ausgussförmig also adapted to the renal pelvis. They have a waxy smooth surface and are similar to milk glass. But they are rather yellowish in color.


Cystine stones are rare and are based on an inherited metabolic disease.
Cystine stones have a share of the urinary 1 to 3 percent. So they are very rare. The reason is clear. Cystine stones are a congenital autosomal recessive metabolic disease. A recessive gene is composed by only about 25 percent of the children. Moreover, the disease does break out only if the child has received from both parents, the corresponding gene. This procedure is called homozygous.


Usually the disease manifests before 15 Of age.
For those affected by the transport of the amino acids cystine, ornithine, lysine and arginine ("Zola") is disturbed both in the intestinal mucosa, as well as in the proximal renal tubule. By this disorder increases the excretion of amino acids in the urine. In contrast to the healthy subjects, which excrete 40 to 80 mg cystine per liter of urine, the excretion is concerned at the over 1000 mg / l. Cystine, in contrast to the other three amino acids, only sparingly soluble. Therefore form in the person affected from "just" cystine stones. Usually the disease manifests before 15 Of age.