cystinuria

s an inherited autosomal recessive disease that is characterized by high concentrations of the amino acid cystine in the urine, leading to the formation of cystine stones in the kidneys, ureter, and bladder.

1. By : AMEER AZEEZ
: ADIL SULAIMAN
Cystinuria
Kutaisi -ATSU
22-10-2015

2. Cystine: an amino acid

5. Cystinuria
Cystinuria is an autosomal-recessive disease. The genetic
defect impairs intestinal absorption and renal reabsorption
of cystine, causing elevated urinary levels of cystine and
subsequent crystallization and stone formation.

7. Pathophysiology

9. blood in the urine
severe pain in the side or the back (almost always o
n one side)
nausea and vomiting
pain near the groin, pelvis, or abdomen
Cystinuria is asymptomatic (causing no symptoms) when there are no stones.
However, the symptoms will recur each time stones form in the kidneys. The s
tones commonly return more than once.
Symptoms

10. Cystinuria : the solution
Increase solubility of cystine in urine
-increase the PH of urine
decrease the concentration of cystine
-increase the urine volume
change the cystine into cysteine

11. Extracorporeal shock wave lithotripsy

12. ureterolithotomy

13. Shukren
Thanks
Madloba