Weaning practices in phenylketonuria vary between health professionals in Europe.

BACKGROUND: In phenylketonuria (PKU), weaning is considered more challenging when compared to feeding healthy infants. The primary aim of weaning is to gradually replace natural protein from breast milk or standard infant formula with solids containing equivalent phenylalanine (Phe). In addition, a Phe-free second stage L-amino acid supplement is usually recommended from around 6 months to replace Phe-free infant formula. Our aim was to assess different weaning approaches used by health professionals across Europe. METHODS: A cross sectional questionnaire (survey monkey®) composed of 31 multiple and single choice questions was sent to European colleagues caring for inherited metabolic disorders (IMD). Centres were grouped into geographical regions for analysis. RESULTS: Weaning started at 17-26 weeks in 85% (n = 81/95) of centres, >26 weeks in 12% (n = 11/95) and < 17 weeks in 3% (n = 3/95). Infant's showing an interest in solid foods, and their age, were important determinant factors influencing weaning commencement. 51% (n = 48/95) of centres introduced Phe containing foods at 17-26 weeks and 48% (n = 46/95) at >26 weeks. First solids were mainly low Phe vegetables (59%, n = 56/95) and fruit (34%, n = 32/95).A Phe exchange system to allocate dietary Phe was used by 52% (n = 49/95) of centres predominantly from Northern and Southern Europe and 48% (n = 46/95) calculated most Phe containing food sources (all centres in Eastern Europe and the majority from Germany and Austria). Some centres used a combination of both methods.A second stage Phe-free L-amino acid supplement containing a higher protein equivalent was introduced by 41% (n = 39/95) of centres at infant age 26-36 weeks (mainly from Germany, Austria, Northern and Eastern Europe) and 37% (n = 35/95) at infant age > 1y mainly from Southern Europe. 53% (n = 50/95) of centres recommended a second stage Phe-free L-amino acid supplement in a spoonable or semi-solid form. CONCLUSIONS: Weaning strategies vary throughout European PKU centres. There is evidence to suggest that different infant weaning strategies may influence longer term adherence to the PKU diet or acceptance of Phe-free L-amino acid supplements; rendering prospective long-term studies important. It is essential to identify an effective weaning strategy that reduces caregiver burden but is associated with acceptable dietary adherence and optimal infant feeding development.

Early feeding practices in infants with phenylketonuria across Europe.

BACKGROUND: In infants with phenylketonuria (PKU), dietary management is based on lowering and titrating phenylalanine (Phe) intake from breast milk or standard infant formula in combination with a Phe-free infant formula in order to maintain blood Phe levels within target range. Professionals use different methods to feed infants with PKU and our survey aimed to document practices across Europe. METHODS: We sent a cross sectional, survey monkey® questionnaire to European health professionals working in IMD. It contained 31 open and multiple-choice questions. The results were analysed according to different geographical regions. RESULTS: Ninety-five centres from 21 countries responded. Over 60% of centres commenced diet in infants by age 10 days, with 58% of centres implementing newborn screening by day 3 post birth. At diagnosis, infant hospital admission occurred in 61% of metabolic centres, mainly in Eastern, Western and Southern Europe. Breastfeeding fell sharply following diagnosis with only 30% of women still breast feeding at 6 months.53% of centres gave pre-measured Phe-free infant formula before each breast feed and 23% alternated breast feeds with Phe-free infant formula. With standard infant formula feeds, measured amounts were followed by Phe-free infant formula to satiety in 37% of centres (n = 35/95), whereas 44% (n = 42/95) advised mixing both formulas together. Weaning commenced between 17 and 26 weeks in 85% centres, ≥26 weeks in 12% and < 17 weeks in 3%. DISCUSSION: This is the largest European survey completed on PKU infant feeding practices. It is evident that practices varied widely across Europe, and the practicalities of infant feeding in PKU received little focus in the PKU European Guidelines (2017). There are few reports comparing different feeding techniques with blood Phe control, Phe fluctuations and growth. Controlled prospective studies are necessary to assess how different infant feeding practices may influence longer term feeding development.

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.

Antioxidant defense in children with chronic viral hepatitis B and C.

INTRODUCTION: The aim of the study was estimation of antioxidant defence state in children with chronic viral hepatitis. MATERIAL AND METHODS: We examined 100 children with chronic viral hepatitis who have serological and molecular markers of HBV or HCV infection. In all patients catalase (CAT), superoxide dismutase (SOD) and glutathione peroxidase (GSH-Px) activities in erythrocytes were assayed. RESULTS: We observed statistically significant decrease of CAT and SOD activities and increase of GSH-Px activity in children with chronic hepatitis B and C. CONCLUSIONS: Our data suggest the possibility of insufficiency of antioxidant barrier in children with chronic viral hepatitis.

Studies of the effectiveness of interferon alpha treatment for chronic hepatitis C in children.

INTRODUCTION: The significance of hepatitis C infection in Poland, particularly in a pathology of the developmental age still increased. The aim of the study was the analysis of interferon alpha therapy efficacy in children with chronic C hepatitis. MATERIAL AND METHODS: 30 children (aged from 3 years to 15 years, 16 females, 14 males) were included in the study. In each patient HCV infection was confirmed by the serological, molecular (with identification of HCV genotype) and histopathological methods. The duration of observation of HCV-infected children after the diagnosis was made followed for at least 6 months. Transaminase level in each case was 50% higher than normal. The schema of interferon alpha treatment was: 3 MU 3 times a week subcutaneously for 25 weeks. Time of observation started at the beginning of the therapy and finished 1 year after the end of the treatment. RESULTS: The analysis of the HCV genotypes showed the predominance of the genotype 1 (66.7%): subtype 1a was found in 20% patients, subtype 1b--in 43.5% children. Genotype 4 (subtype 4c4d or 4b) was confirmed in 30% patients, genotype 3 (subtype 3a) in 3.3% patients. In the histopathological picture of the liver predominated minimal or moderate inflammation activity (grading: 1--in 50%, 2--in 46.6%, 3--in 3.4%) and little fibrosis (staging: 0--in 80%, 1--in 13.3%, 2--in 6.7%). In many children mild side effects of interferon alpha therapy were observed: pseudoinfluenzal symptoms (in 46.7%), lack of appetite (in 16.7%), abdominal pain (in 10%), thrombocytopenia (in 6.7%), granulocytopenia, hair loss, irritability, itching of the skin (in 3.4%). At the end of therapy in 36.7% patients serum HCV-RNA was undetectable. The percentage of children without serum HCV-RNA decreased 6 months after the end of therapy to 20% patients and a year after the end of therapy to only 13.6% children. In children with HCV-RNA elimination was observed early reduction of ALT level. For the definition of the predictive factors of good prognosis patients were divided into 2 groups: group I (without HCV-RNA elimination at the end of the treatment) and group II (patients HCV-RNA negative a year after the end of therapy). Both group of children were similar in respect of age, disease duration and interferon alpha dosis/m2. At the beginning of the treatment mean ALT level was statistically higher in group II than in group I. IL-2 level was significant higher in group II than at the beginning, after 2 and 4 months of the therapy. There were no significant differences in IL-1 beta, IL-4 and IL-6 level between patients in group I and II. The differences in ALT activity during IFN-therapy between 2 groups of patients were statistically significant; since second month of therapy higher ALT level was observed in a group of patients without HCV-RNA elimination. In the histopathological picture of the liver a year of the end of therapy in 20% children reduction of inflammatory activity and progression of fibrosis in both group of patients was observed. CONCLUSIONS: Because of a little efficacy, high costs, psychological load of young patients and possible following consequences of the interferon alpha therapy it is necessary to manage the further researches to find a new method of treatment of chronic C hepatitis. High ALT activity and elevated IL-2 level before treatment seems to be predictive factors of the good response to interferon alpha therapy.

[Chronic hepatitis C in a 12-year-old girl coinfected with HGV]. / Przewlekle zapalenie watroby typu C wspólistniejace z zakazeniem HGV u 12-letniej dziewczynki.

In this study we present a 12-year-old girl with chronic C hepatitis coinfected with HGV, in which severe life-threatening side effects from alfa interferon therapy occurred after 3 months of injection and required definite IFN withdrawal. It seems, that infection HGV may predispose patients with chronic C hepatitis treated with alpha interferon to this severe side effect.

[Clinical and morphological picture of hepatitis C in children with genotype 4c4d]. / Obraz kliniczno-morfologiczny wirusowego zapalenia watroby typu C u dzieci z genotypem 4c4d.

Actually, HCV genotype 4 is frequent in central Africa and in the Middle East. In contrast, in Europe genotype 4 is uncommon (1-4%). In this study we present 12 children with HCV genotype 4c4d. Clinical picture in this group was asymptomatic, morphological was moderate.

[Holter EKG method of monitoring during gastroscopic examination in children]. / Monitorowanie EKG metoda Holtera podczas badania gastroskopowego u dzieci.

Assessing the results of ECG monitoring by the Holter method during gastroscopic examination in children a more frequent incidence was found of isolated ventricular ectopic beats than in the control group. No complex forms of arrhythmia were found in either group.

[An attempt to estimate epidemiologic prevalence of HBs associated antigen among hospitalized children]. / Próba epidemiologicznej oceny antygenemii HBs u dzieci hospitalizowanych.

We have observed the problem of the more frequent occurrence of the hepatitis-associated antigen (HBsAg) among multiple hospitalized children and we have analysed the medical documentation of children who were treated in the Department of Gastroenterology and Pediatrics of the Medical Academy of Bydgoszcz in 1989-1992 years. In this period of time we have recorded 39 children with HBsAg. In 80% (31 patients) there are children, who were hospitalized two or more times. We have proved, that in the group of children with HBsAg, children with chronic illness or frequently hospitalized were the risk group.