Penicillamine therapy for pediatric cystinuria: experience from a cohort of American children

J Urol. 2008 Dec;180(6):2620-3. doi: 10.1016/j.juro.2008.08.057. Epub 2008 Oct 31.


Purpose: Cystinuria, an inherited defect of dibasic amino acid transport, causes accumulation of urinary cystine and cystine urolithiasis. In adults penicillamine reduces stone formation but has a high incidence of dose limiting toxicity. We evaluated the effects of penicillamine in preventing stone formation and with respect to toxicity in our cystinuria cohort at a pediatric biochemical genetics clinic.

Materials and methods: We reviewed the charts of all 11 children with cystinuria treated at our clinic using a gradual dose escalation of penicillamine. Mean +/- SD patient age at diagnosis was 5.8 +/- 4.3 years (range 1.2 to 12). We tracked urinary cystine concentration before and after initiation of treatment, penicillamine side effects and incidence of new stones during maintenance therapy.

Results: During the gradual escalation of penicillamine to the target dose none of the 11 patients experienced toxicity and all had improved urinary cystine concentration (mean +/- SD percent reduction 54% +/- 25%, range 5% to 81%). We followed the patients for a total of 1,203 months (mean +/- SD 109 +/- 73 months, range 41 to 221), periodically assessing urinary cystine concentration, urine protein content, complete blood count, blood urea nitrogen, creatinine and liver function. During this time only 2 patients experienced significant side effects and no patient had stones or stone crises while compliant with treatment.

Conclusions: In our cohort penicillamine was well tolerated after gradual initiation and it reduced urinary cystine concentration. Long-term compliance with the medication appeared to protect patients from acute stone crises.

MeSH terms

  • Adolescent
  • Child
  • Child, Preschool
  • Cystinuria / complications*
  • Cystinuria / drug therapy*
  • Female
  • Humans
  • Infant
  • Male
  • Penicillamine / therapeutic use*
  • Retrospective Studies
  • United States
  • Urinary Calculi / etiology*
  • Urinary Calculi / prevention & control*


  • Penicillamine