Search PubMed⌕ Search

Biomedical subjects

F Perfumo

Publications and source records attributed to F Perfumo.

At least 109 records · Page 6Linked to original sources
PubMed1987

Renal selectivity properties towards endogenous albumin in minimal change nephropathy.

It is well accepted that the molecular charge and conformation of serum proteins are major determinants of their glomerular filtration, but few studies characterizing the molecular features of circulating proteins in renal diseases are currently available. In 11 children affected by minimal change nephropathy (MCN) we determined the electrical charge and the fluorescence quantum yield of Tyrosine (Tyr) and Tryptophan (Trp) (taken as index of conformation) of serum and urinary albumin before and after steroid-induced remission of proteinuria. In all proteinuric children at the onset of the disease, urinary albumin was formed by one band with an isoelectric point (pI) of 4.7 (pI of the native protein), and by numerous other, less anionic bands with pIs between 4.8 and 5.5 accounting for about 50% of the total amount of this protein. The normalization of proteinuria which followed steroid therapy was characterized by the disappearance in urines of the less anionic fraction and by the appearance of numerous isoforms with a pI still more anionic (pI less than 4.7) than normal. At the same time, in the proteinuric phase, the fluorescence quantum yield of Trp of urinary albumin was markedly quenched, returning to near normal levels after steroid-induced remission of proteinuria. These data indicate that in MCN the charge-dependent renal selectivity properties are partially maintained and that the less anionic isoforms of albumin are a main component of urinary albumin. Together with the electrical charge, the conformation of albumin as a major determinant of its urinary excretion in MCN must also be considered.

Adolescent↗
PubMed1987

Characterization of cationic albumin in minimal change nephropathy.

The presence of isoalbumins with a less anionic charge than the normal protein (pI = 4.7) is the hallmark of proteinuria in minimal change nephropathy (MCN). Steroid-induced restoration of near normal levels of proteinuria is characterized by the appearance in urines of isoalbumins with a pI still more anionic than the normal. In our search for an explanation for the pI changes, we used preparative isoelectric focusing in granulated gels to split the microheterogeneous bands obtained from nine MCN-affected children into four fractions (A1, A2, A3, A4) with decreasing pI from 5.8 to 4.0 and we have determined their fatty acid content. The least anionic fraction, A1, was the most defatted, followed by A2, A3 and A4 in which fatty acid content progressively increased, A4 being the most fatted fraction. Accordingly, the mean content of fatty acids in urinary albumin in proteinuric children was lower than in both the remission phase and in normal children (2.17 +/- 0.03 vs. 20.91 +/- 0.38 and 20.94 +/- 0.39, respectively) and was lower by a factor of 4 compared to serum albumin in the same phase of the disease (2.17 +/- 0.03 vs. 8.59 +/- 1.64). Among medium and long-chain fatty acids, the ratio between serum and urinary albumin was the highest for linoleic acid (approximately 7), followed by that of oleic acid, palmitic acid and lauric acid. At variance in five other patients affected by non-MCN nephrotic syndrome this ratio was for practically all FAs about 1.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1987

Nephropathy associated with Wilms' tumor. A case of a 13-year-old girl.

The association of nephropathy with Wilms' tumor and male pseudohermaphroditism is known as Drash's syndrome. The absence of either pseudohermaphroditism or Wilms' tumor has also been reported. The nephropathy, characterized by proteinuria or nephrotic syndrome, leads rapidly and inevitably to renal failure. The renal findings are those of a chronic glomerulopathy with mesangial hypercellularity, glomerular sclerosis, interstitial infiltration and marked tubular dilation. This infrequent syndrome usually appears in early life, between 1 and 3 years of age. The case of nephropathy associated with Wilms' tumor we present here is characterized by age and onset: an abrupt onset of renal insufficiency without previous signs of nephropathy in a 13-year-old girl.

Adolescent↗
PubMed1987

Growth hormone response to growth hormone-releasing hormone in normal and uraemic children. Comparison with hypoglycaemia following insulin administration.

The uraemic syndrome is characterized by several endocrinological disturbances. This study was undertaken in order to evaluate the GH response to growth hormone-releasing hormone (GRH) in children with chronic renal failure (CRF) and to compare the results with those observed after insulin hypoglycaemia. Twenty-two children with CRF, 10 undergoing continuous ambulatory peritoneal dialysis (CAPD) and 12 on conservative treatment (CT), age ranges 2-15 years, were studied and the data were compared with those from 14 children with normal renal function and normal hormonal behaviour, affected by short stature (NC), and those form 13 healthy adult volunteers (NA). The GRH test (l micrograms/kg body weight, iv) was carried out in 8 CAPD, 8 CT, 9 NC and 10 NA subjects. The blood samples were taken every 30 min for 3 h in CAPD and CT and for 2 h in NC and NA starting at 09.00 h. The following hormones were measured: GH, LH, FSH, Prl, TSH and cortisol (F). The insulin test (0.1 U/kg body weight, iv) was carried out in 5 CAPD, 5 CT, 10 NC and 9 NA on blood samples taken every 30 min for 2 h, measuring GH and glycaemia. No adverse effects were observed after the infusion of GRH. GRH administration induced a prompt response in all subjects, but GH plasma levels were significantly higher in uraemic children than in adults (peak value of 43.5 +/- 8.2, 45.0 +/- 8.4, 27.8 +/- 6.0; 13.5 +/- 2.6 micrograms/ml in CAPD, CT, NC and NA, respectively).(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1985

Controlled trial of methylprednisolone pulses and low dose oral prednisone for the minimal change nephrotic syndrome.

In a multicentre, randomised, prospective trial 89 patients (67 children and 22 adults) with the minimal change nephrotic syndrome were treated with three intravenous pulses of methylprednisolone followed by low dose oral prednisone for six months (group given methylprednisolone) or with high dose oral prednisone for four weeks followed by low dose oral prednisone for five months (control group). Five patients in the group given methylprednisolone and one in the control group did not respond initially. The time to response was shorter in children treated with methylprednisolone. No significant differences between the two groups were observed in the number of patients who relapsed or number of relapses per patient per year. Patients given methylprednisolone tended to relapse earlier than patients in the control group. Side effects related to treatment were significantly fewer in the group given methylprednisolone than in the control group. These data suggest that a short course of methylprednisolone pulses followed by low dose oral prednisone is only marginally less effective than a regimen of high dose oral steroids but can improve the ratio of risk to benefit associated with treatment of the minimal change nephrotic syndrome.

Administration, Oral↗
PubMed1979

[The hyperaminoacidurias with special reference to cystinuria].

Increased urinary excretion of free amino acids is a sign which requires determination of the underlying cause. Physiological aspects of tubular transport with emphasis on the role played by transport proteins or carriers are briefly discussed. Subsequently we present a resumptive classification. In prerenal hyperaminoaciduria the urinary excretion of amino acids just reflects the error in amino acid metabolism. Depending on tubular reabsorption of the amino acid involved in the metabolic error three types can be distinguished: the overflow, the competitive and the non-threshold hyperaminoacidurias. Renal hyperaminoaciduria can either be specific for individual or group-related amino acids, or generalized involving all amino acids. With the exception of classical cystinuria the various hyperaminoacidurias have more theoretical than clinical importance. Generalized hyperaminoaciduria is always a symptom of severe tubular disturbance which can be produced by various metabolic diseases, intoxications or deficiency states. Finally we present our experience in the treatment of cystinuria with mercaptopropionyl-glycine.

Amino Acids↗