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).

Pompe disease, especially in its infantile form, is a fatal disease. Most of the patients with this disease synthesize a nonfunctional form of the enzyme alpha glucosidase (GAA), the deficient enzyme in this disease. Patients producing some amount of this protein are labeled as cross-reactive immunologic material (CRIM)-positive. Few of them are unable to synthesize it and are labeled CRIM-negative. The clinical course of the disease has changed with the advent of enzyme replacement therapy (ERT) with recombinant alpha glucosidase enzyme (rhGAA). However, CRIM-negative patients have always been known to have poor outcome on ERT due to the development of anti-rhGAA antibodies in their bodies that neutralizes ERT efficacy. Here, we describe two CRIM-negative siblings on rhGAA ERT with unusually low anti-rhGAA antibody titer and good clinical outcome. Up to our current knowledge, this is the first report that describes such a good response to ERT in CRIM-negative patients.

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.