Rare Diseases Symptoms Automatic Extraction

New horizons in the management of patients with cystinuria.

[cystinuria]

Although the formation of cystine stones is seen in only a small fraction of all patients with urolithiasis, this disease is associated with a pronounced morbidity. The difficult clinical management of these patients, with the aim of arresting or decreasing the rate of recurrent stone formation, is well recognized. This review summarizes some recent knowledge.An early and correct diagnosis of cystinuria is fundamental for a successful course of the disease in these patients. Formation starts early in life, and attention to this diagnosis is necessary for the paediatric stone formers. New radiological and biochemical improvements seem useful in this respect. A combination of medical tools is usually necessary to influence the very often, troublesome stone-forming activity. Urine dilution, alkalization and chelating therapy have remained the cornerstones of the therapeutic approach. The importance of a high urine pH has been further emphasized, and the possibility to use acetazolamide is a promising improvement of the medical treatment. In order to increase the compliance and reduce the need of active stone removal, special stone clinics seem to be of particular value. The understanding of the genetic background might open future treatment alternatives.Patients afflicted by cystine stone disease need an aggressive medical treatment, gentle stone-removing surgery and careful follow-up.

Diseases presenting "with the aim of arresting or decreasing the rate of recurrent stone formation" symptom

  • cystinuria

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