Nilo Lambruschini

New approach to osteopenia in phenylketonuric patients.

Aim: To study bone mineralization in a group of phenylketonuric patients and to search for a possible relationship between bone mineral density, dietary control, serum minerals and nutrition intake. The response to treatment with low‐dose 1.25‐(OH)2 vitamin D in patients with osteopenia was evaluated. Methods: Twenty‐eight phenylketonuric patients (age range: 10–33 y) on dietary treatment were investigated. Bone density at the lumbar spine (Dual Energy X‐ray Absorptiometry), bone formation markers (osteocalcin and bone alkaline phosphatase), serum minerals, index of dietary control and protein, vitamin D and mineral intakes were determined. Results: Of the patients studied, 78.6% had good dietary compliance (462 ± 89 μmol/L). Mean protein, vitamin D and mineral intakes met the recommended dietary allowances (RDAs). Nevertheless, 8 patients had calcium intakes lower than 1000 g/d, and a positive correlation between Z‐score and calcium (r= 0.585; p= 0.002) or phosphorus intake (r= 0.546; p= 0.005) was observed. Osteopenia was detected in 14 patients (50%). Moreover, bone alkaline phosphatase in phenylketonuric patients older than 18 y of age was significantly lower than that in controls (p > 0.0001). No correlation was found between bone mineral density, age, serum minerals, bone formation markers or index of dietary control. Treatment with 0.25 μg/d calcitriol significantly increased bone density in 6 patients.

Do adult patients with phenylketonuria improve their quality of life after introduction/resumption of a phenylalanine-restricted diet?

Aim: To evaluate the possible influence of dietary treatment on the quality of life of adult patients with PKU (phenylketonuria) following late introduction or resumption of a Phe‐restricted diet. Methods: Fifteen adult patients with classical PKU (10F, 5M; mean age: 27.5 y, range: 16.4–37.5 y) were selected for the study. These patients had either resumed a restricted diet after a period of discontinuation, or were placed on a restricted diet after late diagnosis. All of them were interviewed about their quality of life using a 24‐item questionnaire. Results: The index of dietary control was poor (median Phe: 954 μmol/L) in 8/15 patients, regular (Phe: 514 μmol/L) in 4/15 and good (Phe: 354 μmol/L) in 3/15 patients. Fifty‐three percent of patients reported that their state of health was very good, 47% described it as good, and 40% felt that their present health on‐diet was better than it had been off‐diet; 53% believed that they were calmer, quieter and less easily upset and 40% were more alert and were more able to maintain attention while on‐diet. Thirty‐three percent of the patients felt happier, and 27% felt more vital; 20% thought that they were less impulsive and aggressive, and that they were now less argumentative than before. Sixty percent of the patients felt that their quality of life had improved on‐diet compared with the situation off‐diet.

Is there a relationship between plasma phenylalanine and cholesterol in phenylketonuric patients under dietary treatment

OBJECTIVESnTo study the lipid profile in a group of treated phenylketonuric patients (PKU; n = 61) compared with a group of inborn error of intermediary metabolism patients (IEM; n = 22), a group of hyperphenylalaninemic children (HPA; n = 37), and a control group without dietary restriction (n = 41).nnnDESIGN AND METHODSnPhenylalanine was analyzed by ion exchange chromatography and triglycerides, cholesterol and HDL were determined by standard procedures with the Cobas Integra analyzer.nnnRESULTSnSerum total cholesterol concentrations were significantly lower in PKU patients compared with IEM patients (whose cholesterol daily intake was similar to those of PKU patients), HPA children and the control group. A negative correlation was observed between cholesterol and phenylalanine concentrations in the PKU patients.nnnCONCLUSIONSnOur findings support the hypothesis of a relationship between high plasma phenylalanine levels and an inhibition of cholesterogenesis, although the low cholesterol intake of the special diets may also decrease serum cholesterol values.

Cognitive functions in patients with phenylketonuria in long-term treatment with tetrahydrobiopterin

Cognitive functions were assessed in 9 patients with mild to moderate phenylketonuria (PKU) ranging from 6 to 18 years of age, who were in long-term treatment (>5 years) with 5-9 mg/kg/day tetrahydrobiopterin (BH4) on compassionate use, provided by Schircks Inc. An extensive study of cognitive functions (intelligence quotient (IQ), visuospatial, visual memory, fine motor, executive and attentional functions) was conducted, and behavior was assessed using the ADHD Rating Scale and the Behavior Rating Inventory of Executive Function (BRIEF). All patients had normal IQ (M=107, SD=10). The most notable area of impairment was fine motor function, but no significant difference was found between the PKU patients in BH4 treatment who participated in the current study and PKU patients in dietary treatment who participated in a previous study. These results, however, should be interpreted with caution. It is necessary to conduct further studies with a larger number of patients, using more sensitive tests of motor function and using the formulation of BH4 that is currently available.

Long-chain polyunsaturated fatty acid status in phenylketonuric patients treated with tetrahydrobiopterin

OBJECTIVESnTo evaluate LCPUFA composition in PKU patients treated with BH(4).nnnDESIGN AND METHODSnCross-sectional study of plasma and erythrocyte LCPUFA composition of 13 PKU patients treated with BH(4) compared with data from 48 PKU patients on protein-restricted diet, and 17 mild HPA patients on free diet. PUFA were analysed by gas chromatography.nnnRESULTSnPlasma and erythrocyte docosahexaenoic acid (DHA), and LCPUFA deficiency markers did not show significant differences in PKU patients on BH(4) compared with those with mild HPA and our reference values, but they did in comparison with PKU on protein-restricted diet (p<0.0001). Essential fatty acids and arachidonic acid composition were not significantly different in any of the studied groups. DHA values correlate with the index of dietary control only in PKU patients on protein-restricted diet (p=0.002).nnnCONCLUSIONnLCPUFA status is within the reference values in PKU patients treated with BH(4). This translates to a further advantage of BH(4) therapy.

Manejo farmacológico en el síndrome anorexia-caquexia

Resumen La caquexia es un sindrome metabolico complejo caracterizado por anorexia y perdida de peso que aparece en enfermedades cronicas como el cancer o la infeccion por el VIH. La desnutricion en pacientes oncologicos se ha relacionado con peor tolerancia al tratamiento, menor respuesta al tratamiento y peor calidad de vida. Se han empleado distintos farmacos contra la caquexia en pacientes oncologicos. El objetivo de esta revision es conocer los farmacos disponibles en la actualidad, su mecanismo de accion y sus efectos adversos.

Valoración nutricional en el paciente oncológico pediátrico

Childhood cancer is considered to be the second cause of mortality in children. Progress in the research, diagnostic methods and effectiveness of treatment can improve the survival rate. The neoplasm itself, as well as the treatment can give rise to malnutrition. This can affect patient survival, tolerance and the response to cancer treatments and increased mortality. An assessment of the nutritional state is required, with knowledge of associated symptoms and degree of risk of antineoplastic treatment, in order to calculate the nutritional needs. Likewise, there must be specific goals and appropriate nutritional intervention, in order to increase survival, reduce complications and improve the quality of life.