Cystine transport disease
Commonly known as cystinuria, this is an inherited (genetic) disorder of the transport of an amino acid (a building block of protein) called cystine resulting in an excess of cystine in the urine (cystinuria) and the formation of cystine stones. Cystinuria is the most common defect in the transport of an amino acid. Although cystine is not the only overly excreted amino acid in cystinuria, it is the least soluble of all naturally occurring amino acids. Cystine tends to precipitate out of urine and form stones (calculi) in the urinary tract. Small stones are passed in the urine. However, big stones remain in the kidney (nephrolithiasis) impairing the outflow of urine while medium-size stones make their way from the kidney into the ureter and lodge there further blocking the flow of urine (urinary obstruction). Obstruction of the urinary tract puts pressure back up on the ureter and kidney. causing the ureter to widen (dilate) and the kidney to be compressed. Obstruction also causes the urine to be stagnant (not moving), an open invitation to repeated urinary tract infection. The pressure on the kidneys and the urinary infections results in damage to the kidneys. The damage can progress to renal insufficiency and end-stage kidney disease, requiring renal dialysis or a transplant. The stone are responsible for all the signs and symptoms of cystinuria, including: Hematuria — blood in the urine; Flank pain — pain in the side, due to kidney pain; Renal colic – intense, cramping pain due to stones in the urinary tract; Obstructive uropathy — urinary tract disease due to obstruction; and Urinary tract infections. For a fuller understanding of cystinuria, including the diagnosis, the different modes of treatment, the genetics of cystinuria and the prognosis for persons with this disease, please see the Cystinuria Forum.

Medical dictionary. 2011.

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  • Disease, cystine transport — Commonly known as cystinuria, this is an inherited (genetic) disorder of the transport of an amino acid (a building block of protein) called cystine resulting in an excess of cystine in the urine (cystinuria) and the formation of cystine stones.… …   Medical dictionary

  • Transport disease, cystine — Commonly known as cystinuria, this is an inherited (genetic) disorder of the transport of an amino acid (a building block of protein) called cystine. The result is an excess of cystine in the urine (cystinuria) and the formation of cystine stones …   Medical dictionary

  • Genetic transport disease — Within the body, many molecules are able to pass across the membranes that surround cells. These molecules can accomplish this feat due to specific transport systems. These systems include special receptors on the membrane of the cell and special …   Medical dictionary

  • Transport defect — Within the body, many molecules are able to pass across the membranes that surround cells. These molecules can accomplish this feat due to specific transport systems. These systems include special receptors on the membrane of the cell and special …   Medical dictionary

  • Cystine kidney stones — are due to cystinuria, an inherited (genetic) disorder of the transport of an amino acid (a building block of protein) called cystine that results in an excess of cystine in the urine (cystinuria) and the formation of cystine stones. Cystinuria… …   Medical dictionary

  • Cystine — An amino acid, one of the 20 amino acids which serve as the building blocks of protein. Cystine is not an essential amino acid, that is, it is not essential to the diet since the body can synthesize (make) it. Cystine is particularly notable… …   Medical dictionary

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  • Kidney stones, cystine — Cystine kidney stones are due to cystinuria, an inherited (genetic) disorder of the transport of an amino acid (a building block of protein) called cystine. The result is an excess of cystine in the urine (cystinuria) and the formation of cystine …   Medical dictionary

  • Stones, cystine kidney — Cystine kidney stones are due to cystinuria, an inherited (genetic) disorder of the transport of an amino acid (a building block of protein) called cystine. The result is an excess of cystine in the urine (cystinuria) and the formation of cystine …   Medical dictionary

  • metabolic disease — ▪ pathology Introduction       any of the diseases or disorders that disrupt normal metabolism, the process of converting food to energy on a cellular (cell) level. Thousands of enzymes participating in numerous interdependent metabolic pathways… …   Universalium

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