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In the present study intermediate-density lipoproteins (IDL) and very-low-density lipoproteins (VLDL) composition, structure, and mass were analysed in fasting uraemic patients on continuous ambulatory peritoneal dialysis (CAPD) ( = 12) and on haemodialysis (HD) ( = 15), and in 15 healthy volunteers. All the groups were matched for sex, age, and time on dialysis. Both groups of patients had elevated very-low-density lipoprotein levels, CAPD patients four and HD group three times that of control. We found a fourfold and a twofold increase in the concentration of IDL cholesterol in the CAPD and HD group respectively when they were compared with the control group. Both groups of patients present an increased VLDL mass. The CAPD group showed a four-fold increase in IDL mass compared with the control group, which indicated a preponderance of large size and suggested that defective IDL clearance was involved. The IDL composition of the CAPD patients was significantly different from that of the HD patients: a twofold increase in IDL mass was observed in the CAPD patients if compared with HD patients. We report new data concerning the metabolism of triglyceride-rich lipoproteins in CAPD treated patients, which confirm the adverse effect of CAPD on serum lipids. [ABSTRACT FROM PUBLISHER]

Background: Cystinuria is a heritable disorder of amino acid transport characterized by the defective transport of cystine and the dibasic amino acids through the brush border epithelial cells of the renal tubule and intestine tract. Three types of cystinuria (I, II, and III) have been described based on the urinary excretion of cystine and dibasic amino acids in obligate heterozygotes. The SLC3A1 gene coding for an amino acid transporter named rBAT is responsible for type I cystinuria, whereas the SLC7A9 gene coding for a subunit (b0,+AT) of rBAT is involved in determining non-type I (types II and III) cystinuria.Methods: The SLC3A1 gene sequence was investigated in a sample of seven type I/type I, three type I/non-type I, six type I/untyped, and four untyped unrelated cystinuric patients by RNA single-strand conformation polymorphism (RNA-SSCP).Results: Eight new point mutations (S168X, 765+1G>T, 766-2A>G, R452Q, Y461X, S547W, L564F, and C673W) and seven previously reported mutations were detected. These new mutations increase the number of mutated alleles so far characterized in SLC3A1 to 62.Conclusions: We have found SLC3A1 mutations in 0.739 of the type I chromosomes studied. The relatively high proportion of uncharacterized type I chromosomes suggests either that there may be mutations not yet found in SLC3A1 or that many of the assigned type I chromosomes in mixed type I/non-type I patients may have mutations in SLC7A9. If the hypothesis is excluded in the future, we believe that a third gene may be involved in cystinuria. [ABSTRACT FROM AUTHOR]