Rare Nephrology News

5 Facts you should know about

Cystinuria

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1

Cystinuria is characterized by the inadequate reabsorption of cystine in the proximal convoluted tubules

2

This leads to the formation of cystine crystals and/or stones which may block the urinary tract

3

It is usually an inherited condition characterized by a buildup of cystine in the kidneys and bladder

4

Signs and symptoms of the condition are related to the presence of stones and may include nausea, hematuria, flank pain, and/or frequent urinary tract infections

5

Cystinuria is caused by changes (mutations) in the SLC3A1 and SLC7A9 genes and is inherited in an autosomal recessive manner

Rare Nephrology News