[Type 1 xanthinuria: Report on three cases]. / Xanthinurie héréditaire de type 1 : à propos de trois cas.

Type 1 xanthinuria is a rare cause of urolithiasis due to xanthine dehydrogenase deficiency. Pediatric cases are exceptional. Through the genetic analysis of two cases, we discovered three mutations responsible for a loss of enzyme activity. The first one had a C.3536T>C missense mutation in the XDH gene and the other one was heterozygous for two mutations c.700+1G>T and c.31778_82delTCAT. We review the diagnostic methods, possible complications, and preventive measures for stone formation.

Lung cancer mortality and iron oxide exposure in a French steel-producing factory.

OBJECTIVE: To study the possible association between iron oxide exposures and lung cancer risk among workers in a French carbon steel-producing factory. METHODS: 16 742 males and 959 females ever employed for at least 1 year between 1959 and 1997 were followed up for mortality from January 1968 to December 1998. Causes of death were ascertained from death certificates. Job histories and smoking habits were available for 99.7% and 72.3% of subjects, respectively. Occupational exposures were assessed by a factory-specific job-exposure matrix (JEM) validated with atmospheric measurements. Standardised mortality ratios (SMRs) were computed using local death rates (external references). Poisson regressions were used to estimate the relative risks (RRs) for occupational exposures (internal references), adjusted on potential confounding factors. RESULTS: Among males, observed mortality was lower than expected for lung cancer compared to the local population (233 deaths, SMR 0.89, 95% CI 0.78 to 1.01) and higher than expected compared to the French population (SMR 1.30, 95% CI 1.15 to 1.48) No lung cancer excess was observed for exposure to iron oxides (RR 0.80, 95% CI 0.55 to 1.17) and no dose-response relationship with intensity, duration of exposure or cumulative index was found. A significant bladder cancer excess was observed among workers exposed to oil mist (RR 2.44, 95% CI 1.06 to 5.60), increasing significantly with intensity, duration of exposure and cumulative index. CONCLUSION: This study did not detect any relationship between exposure to iron oxides and lung cancer mortality. An excess of mortality from bladder cancer was found among workers exposed to oil mist.