Cystinuria

Cystinuria is a condition characterized by the buildup of the amino acid cystine, a building block of most proteins, in the kidneys and bladder. As the kidneys filter blood to create urine, cystine is normally absorbed back into the bloodstream. People with cystinuria cannot properly reabsorb cystine into their bloodstream ...1

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Causes of Cystinuria

What causes Cystinuria? When genes responsible for making specific transport proteins are defective, the transport system fails to transport cystine from the urine. These defective gene copies are inherited from parents and cannot be changed. When cystine cannot be absorbed ...2

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Diagnosis of Cystinuria

How is Cystinuria diagnosed? Cystinuria is usually diagnosed when a person goes to the doctor with the symptoms of kidney stones (generally pain called "renal colic"), and those stones are later found through lab analysis to be composed of cystine ...3

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Causes List for Cystinuria

Possible causes of Cystinuria (or similar symptoms) may include:4

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Clinical Features of Cystinuria

As a genetic condition, the disease is present from birth and persists for life. However, symptoms including kidney stone formation, may not occur immediately. While some patients form stones at infancy, others may not be aware of their disease until ...5

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Treatments for Cystinuria

What is/Is there treatment for Cystinuria? As cystinuric is a genetic disease, it cannot be fundamentally cured. Treatment is instead focused on reducing the occurrence of resulting kidney stone formation. All current efforts are aimed at preventing stone formation ...6

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References

  1. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ cystinuria
  2. Source: RDCRN (NCATS/NIH): rarediseasesnetwork.org/ cms/ rksc/ Learn-More/ Disease-Definitions
  3. ibid.
  4. Source: Algorithmically Generated List
  5. Source: RDCRN (NCATS/NIH): rarediseasesnetwork.org/ cms/ rksc/ Learn-More/ Disease-Definitions
  6. ibid.

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Note: This site is for informational purposes only and is not medical advice. See your doctor or other qualified medical professional for all your medical needs.