An incidental case of dihydropyrimidine dehydrogenase deficiency: One case, multiple challenges.

Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disorder that shows large phenotypical variability, ranging from no symptoms to intellectual disability, motor retardation, and convulsions. In addition, homozygous and heterozygous mutation carriers can develop severe 5-fluorouracil (5-FU) toxicity. The lack of genotype-phenotype correlation and the possibility of other factors playing a role in the manifestation of the neurological abnormalities, make the management and education of asymptomatic DPD individuals more challenging. We describe a 3-month-old baby who was incidentally found by urine organic acid testing (done as part of positive newborn screen) to have very high level of thymine and uracil, consistent with DPD deficiency. Since the prevalence of asymptomatic DPD deficiency in the general population is fairly significant (1 in 10,000), we emphasize in this case study the importance of developing a guideline in genetic counseling and patient education for this condition as well as other incidental laboratory findings.

Analysis of sexual functions in male nondiabetic hemodialysis patients and renal transplant recipients.

SUMMARY: Disturbance of sexual functions among hemodialysis patients and renal transplant recipients (RTRs) is controversial. Diabetes mellitus (DM) is known to have a significant negative impact on sexual functions. Most previous studies concerning the issue of disturbance of sexual functions among hemodialysis patients and renal transplant recipients have included diabetic patients also, which might have influenced their results. The aim of this study was to evaluate sexual functions of nondiabetic male (NDM) dialysis patients and RTRs, and to compare our findings with those of the others. Twenty-five nondiabetic male RTRs, 25 age-matched NDM hemodialysis patients, and 25 age-matched NDM controls were the subjects of this study. Sexual functions of all subjects were assessed using the International Index of Erectile Function (IIEF) questionnaire. Statistical analysis was performed using appropriate statistical tests with the level of significance set at P < 0.05. Data were described using mean, standard deviation (SD), median and interquartile range (IQR). Renal transplant recipients (RTRs) and hemodialysis patients had depressed erectile function (EF) and Intercourse satisfaction (IS) function, but normal orgasmic (OF) function. Sexual desire (SxD) function of RTRs group, although subnormal, was better than that of hemodialysis patients. Overall satisfaction (OS) of RTRs, unlike that of hemodialysis patients, was normal. Sexual dysfunction is prevalent even in NDM hemodialysis patients and RTRs. Although ED is equally prevalent among these two groups, it is more profound among the former one. OF is spared in these patients. Renal transplantation seems to normalize OS and improve SxD function of nondiabetic male renal transplant recipients (NDM RTRs).