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Characterization of Patients With Heterozygous Cystinuria.
MedLine Citation:
PMID:  22854136     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
OBJECTIVE: To characterize a contemporary cohort of patients with heterozygous (TZ) cystinuria and compare them with a concurrent cohort of patients with homozygous (MZ) cystinuria. METHODS: A retrospective review of prospectively collected data was performed for 42 consecutive patients presenting with a positive cyanide-nitroprusside test from September 2009 to September 2011. Clinical data were collected, including the findings from a detailed metabolic stone workup that included two 24-hour urine collections with quantitative cystine. The patients were divided into 2 groups: those with TZ (30-400 mg/d) and those with MZ (>400 mg/d) cystinuria. RESULTS: One patient was excluded because the cystine excretion was within the normal range (<30 mg/d), 35 (83.3%) and 6 (14.3%) had TZ and MZ cystinuria, respectively. Compared with those with TZ cystinuria, those with MZ cystinuria were significantly younger at the first stone episode (median 48 years, range 14-67, vs 17, range 6-44, P = .002), more were female (20% vs 66.7%; P = .03), and more patients had bilateral stones (8.6% vs 50%; P = .03). Finally, the patients with MZ cystinuria had more stone episodes than those with TZ cystinuria (3 vs 1; P = .04). From the detailed metabolic stone evaluation, the incidence of hyperuricemia was significantly greater in the MZ patients (17.1% vs 66.7%; P = .02). Although all the MZ patients developed pure cystine stones, 18 (51.4%), 7 (20.0%), and 3 (8.6%) of the TZ patients developed calcium oxalate, uric acid, and cystine stones, respectively (P < .001). In the TZ group, 11 patients (31.4%) had false-negative results on subsequent cyanide-nitroprusside testing. CONCLUSION: Significant differences were found between the patients with TZ and MZ cystinuria in terms of age at the first stone episode, male/female ratio, incidence of hyperuricemia, and stone composition. The clinical significance remains to be elucidated.
Authors:
Mohamed A Elkoushy; Sero Andonian
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-7-31
Journal Detail:
Title:  Urology     Volume:  -     ISSN:  1527-9995     ISO Abbreviation:  Urology     Publication Date:  2012 Jul 
Date Detail:
Created Date:  2012-8-2     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0366151     Medline TA:  Urology     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2012 Elsevier Inc. All rights reserved.
Affiliation:
Division of Urology, Department of Surgery, McGill University Health Centre, McGill University, Montreal, Quebec, Canada.
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