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Cystinuria

Abstract

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NORD is very grateful to Uri S. Alon, MD, Professor of Pediatrics, Director, Bone and Mineral Disorders Clinic, Section of Pediatric Nephrology,The Children's Mercy Hospital and Clinics, for assistance in the preparation of this report.

Synonyms of Cystinuria

  • Cistinuria
  • Cystine-Lysine-Arginine-Ornithinuria
  • Cystinuria with Dibasic Aminoaciduria

Disorder Subdivisions

  • Cystinuria, Type I
  • Cystinuria, Type II
  • Cystinuria, Type III
  • Hypercystinuria

General Discussion

Cystinuria is an inherited metabolic disorder characterized by the abnormal movement (transport) in the intestines and kidneys, of certain organic chemical compounds (amino acids). These include cystine, lysine, arginine, and ornithine. Excessive amounts of undissolved cystine in the urine (cystinuria) cause the formation of stones (calculi) in the kidney, bladder, and/or ureter.

Four subtypes of Cystinuria are recognized. In Type I Cystinuria, there is a defect in the active transport of cystine and the amino acids (dibasic) lysine, arginine, and ornithine in the kidneys and small intestine. People who are carriers of the gene for this type of the disorder generally have no symptoms. In Type II Cystinuria, cystine and lysine transport is severely impaired in the kidneys and only somewhat impaired in the intestines. In Type III Cystinuria, kidney transport of cystine and lysine is defective; intestinal transport is normal. People who are carriers of the gene for this variety of the disease typically have slightly elevated levels of cystine and lysine in the urine. In Hypercystinuria, there is generally a moderate elevation of cystine in the urine; intestinal absorption of cystine and the dibasic amino acids is normal.

Cystinuria Resources

Organizations:

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