Cystinuria

What is Cystinuria?

Excessive urinary excretion of cystine, along with lysine, arginine, and ornithine, arising from defective transport systems for these acids in the kidney and intestine; renal function is sometimes compromised by cystine crystalluria and nephrolithiasis. There are at least three forms of cystinuria, which are distinguished by the severity of urinary excretion of cystine in obligate carriers; all with autosomal recessive inheritance. Types I and II cystinuria are allelic disorders caused by mutation in the solute carrier family 3 gene (SLC3A1), which is an amino acid transporter gene on chromosome 2q. Type III is caused by mutation at a separate locus.

Questions and answers on "Cystinuria"

People living for more than 14yrs with cysteine kidney stones will eventually die how?

doctor1 MD

Brief Answer:
Needs supportive care and management

Detailed Answer:
Thank you for asking

I read your question and i understand your concern. Like...

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I have just been diagnosed with kidney stones in both kidneys. Can this cause severe leg pain and blue coloured...

doctor1 MD

Hi

Kidney stones cause flank pain which radiates to groin. Kidney stone can also cause pain in the abdomen (lumbar region). The pain sometimes...

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I recently had a KUB after passing a small stone . I have had one previous attack and was told then that both kidneys have stones. The first attack...

doctor1 MD

Hello,
Although not in all people but kidney stones in some cases can actually result in a “dead” kidney or kidney failure. The good news though is...

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