Πέμπτη 12 Νοεμβρίου 2020

Cystinuria

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The patient was an 8-year-old boy with flank pain and past medical history of more than 10 episodes of renal stone since the age of 18 months. Urine analysis revealed positive blood (20–25/HPF) and hexagonal crystals in the sediment (figure 1). The crystals had a negative birefringence with polarised microscopy. The cyanide nitroprusside test was positive (figure 2). The patient was under the treatment of potassium citrate, high fluid intake, low sodium, and low protein diet since the age of 18 mo nths with the diagnosis of cystinuria. D-penicillamine (tiopronin which is a better choice is not available in Iran pharmaceutical market) was also started for the patient at the age of 2 years after the first recurrence of the renal stone.

Cystinuria is a rare hereditary cause of renal stones. It is an autosomal recessive disease due to mutation in SLC3A1 (type A) and SLC7A9 (type B) which...

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