A case of an atypical variant of Fabry among 450 male dialysis patients (0.22%) was found in the survey. This indicates the potential for undiagnosed Fabry disease among dialysis patients. The results of this study indicate the significance of screening for Fabry disease among male dialysis patients.
Abstract. The association of familial hypogonadism with progressive cerebellar ataxia is only rarely encountered, and the exact link between the symptoms remains unknown. We report here two sisters presenting with Holmes type cerebellar ataxia, hypogonadotropic hypogonadism and retinochoroidal degeneration recently diagnosed as Boucher-Neuhauser syndrome. There was consanguinity between the parents of the affected individuals and the condition seemed to be inherited as an autosomal recessive defect. On endocrinological examinations, in both cases, the responses of LH and FSH to LH-RH (100 jug) were impaired even after repetitive stimulation with LH-RH (400 jig, 7 days), suggesting that the hypogonadism was due to a primary pituitary disturbance. Impaired GH responses to GRF (100 ug) and insulin-induced hypoglycemia (0.1 U/kg) were also noted. The two sisters shared an almost identical clinical and endocrinological picture. Their karyotypes were 46, XX. They had been treated for primary and secondary amenorrhea at the age of 20 years and neurological problems had started at the age of 30 years. This unique family displays clinical evidence of a possible common mechanism responsible for a progressive hypothalamo-pituitary and cerebellar impairment of late onset.
A 31-year-old manwhohad been under regular hemodialysis for 6 months was diagnosed as Williams syndrome (WS) by fluorescence in situ hybridization (FISH) chromosomal analysis. The association of WSand chronic renal failure (CRF) is only rarely encountered. Endocrinological examinations revealed hypergonadotropic hypogonadism. Prolonged and exaggerated responses of adrenocorticotropin (ACTH) to insulin-induced hypoglycemia and corticotropin releasing hormone (CRH) were also noted. While most of the endocrinological abnormalities observed in this patient could be attributed to altered endocrine circumstances in CRF, some findings stand in contrast. Furthermore, the testicular biopsy specimen showed severe hypospermatogenesis.Endocrine disorders observed in this patient may be at least in part, responsible for various clinical features underlying WS. (Internal Medicine 35: 482-488, 1996)
Three times weekly home hemodialysis (HHD) was introduced shortly after the initiation of chronic hemodialysis (HD) treatment in 1960. HHD eliminates the need of transportation to and from the dialysis unit and by allowing patients to set their own dialysis schedule, decreases the burden of treatment on their personal and professional lives. HHD has been found more economical and more highly associated with better patient survival than in-center dialysis. Nevertheless, the global prevalence of HHD decreased between 1980 and 2000 due to the increased availability of dialysis units and continuous ambulatory peritoneal dialysis, advances in cadaveric kidney transplantation, and several other factors. However, the availability of HHD at a frequency of more than 3 times/week, the typical frequency of conventional HD (CHD), in such forms as brief HD sessions of 2-3 h 5-6 days/week and nocturnal HD (NHD) has led to reversals in this trend. Frequent HHD, such as short daily HD (SDHD) and NHD instead of 3 times/week CHD, has been found to significantly improve hypertension, left ventricular mass, renal anemia, quality of life and mortality. On the other hand, NHD has been found to significantly improve hypertension, left ventricular mass, renal anemia, quality of life, malnutrition, mortality and phosphate clearance. Many observational clinical studies and one randomized controlled trial of SDHD and/or NHD have been conducted, and compact and convenient dialysis machines have been developed and used for HHD. The most recent data reported in the national and local registries of selected countries indicate that the prevalence of HHD among all dialysis patients from 2008 to 2010 varied from 0 to 3.3% except in New Zealand and Australia, where it was 16.3 and 9.3%, respectively. As HHD appears to be a more effective and economical dialysis modality than in-center CHD, its prevalence is likely to increase in the future.
Background Thrombophilia due to protein C (PC) and protein S (PS) deficiencies is highly prevalent among patients with stage 5 chronic kidney disease and is reported to arise due to extracorporeal circulation during hemodialysis (HD). This study aimed to evaluate the relationship between HD treatment and thrombophilia. Methods A total of 114 Japanese patients on maintenance HD (62 men, 52 women) were followed during 2008–2011. Their survival rates were compared against the duration of HD. Prior to each HD, coagulation/fibrinolysis parameters and PC and PS activities were measured using standard techniques. The patients were divided into two groups: Group 1, with PC and/or PS deficiencies ( n = 32), and Group 2, without PC and PS deficiencies ( n = 82). The influence of such deficiencies and duration of dialysis on survival was examined. Time-to-event analysis was applied using Kaplan-Meier estimates, and the log-rank test was proposed to test the equivalence of relative survival data. Hazard ratios and 95% confidence intervals (CI) were calculated. Results Of the 114 patients, 37 died (Group 1, 22; Group 2, 15). The hazard ratio (95% CI) was higher ( p = 0.004) in Group 1 than Group 2. Gene analyses of PC and PS were performed in 14 patients from Group 1. No mutations in either protein were observed. We analyzed the causes of death in both groups; however, the estimated thrombophilia-related incidence of death could not be determined due to small sample size of HD patients. Conclusions Our results suggest that PC and PS deficiencies may be related to survival in HD patients. However, this finding warrants additional research.
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