Phenylketonuria is not a risk factor for gut mucosa inflammation: a preliminary observation.

BACKGROUND: Phenylketonuria (PKU) is an inborn error of amino acid metabolism in which high phenylalanine (Phe) concentrations in the central nervous system adversely affect its development and functioning. In PKU high oxidative stress and inefficiency of free radical scavenging may lead to systemic chronic inflammation. We hypothesised that in PKU gut mucosa is chronically inflamed and that this leads to release of calprotectin from neutrophils and monocytes. AIM: The aim of this study was to compare intestinal mucosa inflammation status, as measured using fecal calprotectin, in patients with PKU irrespective of compliance, and healthy controls. PATIENTS AND METHODS: Forty-four patients with classical PKU were included in the study (21 male, 23 female; aged 0-41 years; mean ± SEM: 16.5 ± 1.7 years). Forty-eight healthy subjects (HS) aged 9-68 years (29.4 ± 2.6 years) comprised the control group, of whom 21 were male and 27 female. Among PKU patients 25 had normal Phe blood concentrations and in 19 they were elevated. In all subjects calprotectin stool concentrations were assessed (PhiCal ELISA, Calpro, Lysaker, Norway). RESULTS: Normal FC (fecal calprotectin) concentrations were found in 43 (97.7%) PKU patients and 46 (95.8%) HS. No correlation between dietary control of Phe blood concentrations and FC levels in PKU patients was found. CONCLUSIONS: No detectable intestinal inflammation occurs in phenylketonuria. Lack of dietary control and elevated Phe levels do not seem to be risk factors for inflammation of the mucosa of the gut.

Quality of life in noncompliant adults with phenylketonuria after resumption of the diet.

BACKGROUND: Discontinuation of dietary therapy in adults with phenylketonuria can lead to neuropsychological abnormalities and emotional problems. The aim of our study was to assess the change in quality of life in adult patients returning to the diet and to define the reasons for failure in diet resumption. METHODS: Quality of life was assessed by means of the Psychological General Well-Being Index before study entry and subsequently after 3 and 9 months. Reasons for failure in diet resumption were analysed. RESULTS: 53 patients participated in the study. Initial quality of life assessment revealed severe distress in 17%, moderate distress in 28% and positive well-being in 55% of them. In the majority of patients with severe or moderate distress, improvement of subjective well-being was observed (especially in the domains of anxiety and depressiveness) if they managed to return to the diet (blood phenylalanine concentrations before study entry 0.78-1.62 mmol/L, mean 1.16 mmol/L; average blood phenylalanine concentration decrease by 0.42 mmol/L). Only 29 persons managed to maintain the diet for at least 3 months and only 10 participants finished the entire 9-month study protocol. Problems with dietary treatment while at work, the high cost of low-protein products and poor knowledge regarding proper diet were the most important factors responsible for failure in resumption of diet. CONCLUSION: Interpersonal differences exist between adult patients on relaxed diet, in some of whom quality of life often remains good, while others can suffer from severe emotional distress. Returning to diet increases quality of life in the majority of patients.

Schönlein-Henoch vasculitis and chronic Helicobacter pylori associated gastritis and duodenal ulcer: a case report.

We describe the case of a child with Schönlein-Henoch purpura (SHP), bleeding duodenal ulcer and Helicobacter pylori (H. pylori) associated gastritis. 5-year-old girl was hospitalized with typical symptoms of SHP. On the third day, the child has several episodes of hematemesis with bright red blood, accompanied by increased pain of the epigastric region. Gastroduodenal endoscopy revealed signs of atrophic gastritis in the antrum, duodenitis with diffuse petechiae, small erosions and bleeding ulcer. The gastric biopsy showed a moderately severe chronic gastritis with activity and H. pylori was detected. The therapy with ranitidine, metronidazole and amoxycillin was introduced for a period of 30 days. At follow-up 2 months later, clinical examination and routine laboratory tests were normal. A repeated endoscopy revealed no evidence of lesions and H. pylori negative gastric biopsy. In our case, the associated chronic antral gastritis and H. pylori infection may well have aggravated the gastrointestinal symptoms of SHP. We feel it would be useful to check for H. pylori in patients with gastrointestinal manifestations of SHP, such as bleeding and important epigastric pain.

Self-report assessment of recurrent abdominal pain.

UNLABELLED: Pain is the principal, and often the only symptom in cases of recurrent abdominal pain (RAP). The purpose of this study was to analyze the clinical background behind the pain symptom and the pain's capacity for differentiation in the diagnostic assessment of a group of 86 children suffering from RAP and observed at a pediatric gastroenterology service. The self-rating methods applied to the children included a verbal scale and a Visual Analogue Scale (VAS) for scoring the pain, and the Eland method, which is based on a graphic representation of the pain to enable its quantification and localization. Regardless of the pain assessment emerging from this study, the children were divided into 3 groups on the basis of a standardized diagnostic procedure, i.e. G1--upper gastrointestinal tract disease; G2--RAP with no apparent organic cause; G3--intestinal disease. RESULTS: The intensity of the pain fails to distinguish between the three groups, while other features seem more useful, e.g. variability in the pain's intensity, the number and location of painful sites, and the how the pain is graphically represented. Drawings typical of RAP with no apparent organic cause characteristically represent the pain more accurately and in greater detail, using more colors and a certain refinement in the performance of the drawing, with varying types of pain in subsequent episodes, and involving several abdominal and even extra-abdominal sites. In our experience, this method might contribute towards the completion and standardization of the child's clinical history and clinical evaluation. Such methods would have to be validated by further clinical studies, however.

Use of handheld computers for assessment of prefrontal cortex function in patients with phenylketonuria.

Assessment of prefrontal brain cortex function can be helpful in treatment monitoring in patients with phenylketonuria. We aimed to assess the usefulness of computerized neuropsychological tests developed for handheld computers for this purpose. We observed worse test performance among persons with blood phenylalanine concentrations exceeding the recommended range. Use of handheld computers was assessed by patients and by doctors as interesting, not time-consuming and convenient. This method can be helpful during routine follow-up visits.

Clinical evaluation of food allergy and food intolerance dietary treatment in children.

Dietary treatment with Humana SL (33) or Prosobee (42) was administered to 75 children at the age from 1 month to 3 years with cow's milk allergy (36), coeliac disease (9), secondary enteropathy (30). The treatment time ranged from a few days (in case of intolerance symptoms) to 12 months. In 13 children intolerance symptoms or unwillingness to take food was observed: in 4 (12%) after the application of Humana SL and in 9 (21%) after Prosobee. Lack of improvement after Prosobee treatment was observed in 4 (10%) children, and in 4 (12%) children with Humana SL. The partial or total relief of symptoms was observed in others (Humana SL-76%, Prosobee-69%). Analysis showed good results of Humana SL and Prosobee treatment of food allergy and intolerance. Both are usually well tolerated by children, however Humana SL seems to taste better and be better accepted. Intolerance symptoms or lack of improvement were most often observed in children at the age of 1-2 months.

Effect of cagA status on the sensitivity of enzyme immunoassay in diagnosing Helicobacter pylori-infected children.

BACKGROUND: The aims of our study were twofold. First, we sought to evaluate in symptomatic children the influence of the Helicobacter pylori genotype on gastritis, abdominal pain, and circulating anti-H. pylori IgG antibodies (anti-H. pylori IgG) or pepsinogen A (PGA) and C (PGC). Additionally, we sought to assess anti-H. pylori IgG, PGA, and PGC patterns in a large cohort (N = 921) of asymptomatic children. MATERIALS AND METHODS: In 183 symptomatic children, H. pylori infection and the presence of gastritis were evaluated by histology. In a subgroup of 20 H. pylori-positive children, the H. pylori genotype was evaluated also by polymerase chain reaction. Nine hundred and twenty-one asymptomatic children, aged 11 to 14 years, were studied by anti-H. pylori IgG, PGA, and PGC serum determination. RESULTS: The infection was found in 33 of 183 symptomatic children; among the 20 H. pylori-positive children for which the H. pylori genotype was available, cagA was present or absent in equal percentages. H. pylori infection was associated with more severe gastritis and higher serum levels of anti-H. pylori IgG and PGC but not with abdominal pain. In infected children, higher levels of anti-H. pylori IgG and the presence of abdominal pain were associated with infections caused by cagA-positive strains. In the cohort of 921 asymptomatic children, raised levels of anti-H. pylori IgG, PGA, and PGC were found in approximately 5% of the cases. CONCLUSIONS: Infection with cagA-positive H. pylori strains can be associated with increased frequency of reported abdominal pain and higher circulating levels of anti-H. pylori IgG. The serological assessment of H. pylori IgG using H. pylori antigens containing significant amounts of cagA protein may, therefore, underestimate the true prevalence of infection.