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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Recent questions on  Cystinuria

doctor1 MD

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

doctor1 MD

I recently had the symptoms of kidney stones, i have been to the doctor and seems to think that is the cause of all the pain, however i have a scan...

doctor1 MD

My urine smells like rotten eggs. I drink 6 glasses of water daily and I have not not consumed asparagus.

doctor1 MD

I have mild symptoms of a kidney stone. Are there other illnesses of the kidneys that can cause some of the same symptoms as stones?

doctor1 MD

Hi my son is 11 years old he was born with 1 kidney we were not aware of this until he was 18 months old because he was taking into hospital with a...

doctor1 MD

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

i m 24 yr female , un married. i m having pcod problem but for the past 1yr it is regularized. this month i didnt get my periods at time and i got...

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