ABSTRACT
Fabry disease is a progressive metabolic disorder with a clinical course characterized by different phases and a variety of disease manifestations. The first symptoms generally appear in childhood or early adolescence and are followed by late life-threatening complications involving vascular, renal, cardiac, and cerebral systems. We report the clinical and biochemical characteristics of 16 male patients from 10 unrelated families who represent almost the entire cohort of known Fabry patients in Greece. Despite the presence of early symptoms in almost every patient (mean age at onset of symptoms 15.6 years), the diagnosis was delayed for a mean of about 18 years (mean age of diagnosis 36 years). Patients are currently monitored and the majority (15 out 16 patients) treated with Enzyme Replacement Therapy.
Subject(s)
Disease Progression , Fabry Disease/diagnosis , alpha-Galactosidase/genetics , Adolescent , Adult , Age Factors , Age of Onset , Fabry Disease/genetics , Fabry Disease/therapy , Freedom , Genetic Predisposition to Disease , Genotype , Health Surveys , Humans , Kidney Failure, Chronic/etiology , Kidney Failure, Chronic/therapy , Male , Middle Aged , Mutation , Quality of Life , Renal DialysisSubject(s)
Abscess/diagnosis , Myositis/diagnosis , Staphylococcal Infections/diagnosis , Abscess/drug therapy , Abscess/etiology , Aged , Anti-Bacterial Agents/therapeutic use , Humans , Kidney Failure, Chronic/complications , Kidney Failure, Chronic/therapy , Muscle, Skeletal/microbiology , Muscle, Skeletal/pathology , Myositis/drug therapy , Myositis/etiology , Renal Dialysis , Staphylococcal Infections/etiology , Staphylococcal Infections/pathology , Teicoplanin/therapeutic useABSTRACT
The purpose of our study was to evaluate the influence of serum carnitine levels on the metabolic status and lipid profile of patients on continuous ambulatory peritoneal dialysis (CAPD). We studied the lipid profile, the metabolic status (triceps, skinfold thickness, midarm muscle circumference, relative body weight, serum total protein, albumin), and serum carnitine levels in 22 patients (11 male, 11 female) on CAPD. The results are summarized as follows: mean serum total carnitine (TC) was normal, free carnitine (FC) was reduced, while acylcarnitine (AC) was elevated in our patients (p < 0.001). A positive correlation was found between TC (p < 0.02), FC (p < 0.05), and serum total protein. A positive correlation was also found between TC (p < 0.05), AC (p < 0.02), AC/FC (p < 0.02), and relative body weight, and TC (p < 0.001), FC (p < 0.02), AC (p < 0.01), AC/FC (p < 0.02), and triglycerides. No correlation was found between carnitine and mid-arm muscle circumference, triceps skinfold thickness, albumin, total cholesterol, and HDL- or LDL-cholesterol. Further studies are needed to confirm our results.
Subject(s)
Carnitine/analogs & derivatives , Carnitine/blood , Lipids/blood , Nutritional Status , Peritoneal Dialysis, Continuous Ambulatory/adverse effects , Adult , Aged , Anthropometry , Carnitine/deficiency , Female , Humans , Male , Middle Aged , Serum Albumin/analysis , Triglycerides/bloodABSTRACT
The evidence of carnitine abnormal metabolism in patients on continuous ambulatory peritoneal dialysis (CAPD) is unclear, and previous studies have reported conflicting results. The total (TC), free (FC), and acylated (AC) carnitines were estimated in blood and dialysate, as well as the AC/FC ratio, in 29 patients on CAPD, grouped into high (H-Abs) and low (L-Abs) absorbers, according to the results of the peritoneal equilibration test (fast PE-test). Our data demonstrated that patients with higher peritoneal transport rates, which was the H-Abs group, males and females, showed a better carnitine metabolic status compared to the L-Abs group. Although the H-Abs group lost significantly more free carnitine than the L-Abs group, the AC/FC ratio of the H-Abs group remained within normal range. All the patients in our study showed abnormally high triglyceride (TRG) levels and an abnormally high total cholesterol/HDL cholesterol ratio. In particular, the patients in the L-Abs group showed significantly higher TRG levels and total cholesterol/HDL cholesterol ratios than the H-Abs group. Those patients who have been on CAPD for more than 2 years showed significantly abnormally higher AC/FC ratios than those with shorter periods on CAPD treatment. In patients with AC/FC ratio greater than 0.4, the supplementation of L-carnitine may have a beneficial effect on their carnitine and lipid metabolism.
