Sara Quattrini

Background/Objectives: Hereditary fructose intolerance (HFI) is a rare autosomal recessive metabolic disorder caused by variants in the ALDOB gene, resulting in aldolase B deficiency. Symptoms occur after the ingestion of fructose, sucrose, or sorbitol, leading to metabolic toxicity. Management is exclusively dietary, but clinical practice remains highly variable. This survey aimed to investigate current Italian dietary management practices for patients with HFI. Methods: A cross-sectional centre-level survey was conducted using a 29-item questionnaire distributed to metabolic dietitians within the Italian Society for the Study of Inherited Metabolic Diseases network between April and May 2026. Results: Data from 27 dietitians across 15 Italian inherited metabolic disease centres were analysed. Over half of the centres (53.3%) provided care for both paediatric and adult patients, and all centres (100%) supplied structured educational materials for the fructose-, sucrose-, and sorbitol-restricted diet. Marked heterogeneity was observed in dietary practices, particularly in the classification of sugars and sweeteners, recommendations for cereal-based products, and fibre supplementation strategies. Cereal-based dietary guidance was provided by 10/15 centres (66.7%), ranging from no specific recommendations (5/15, 33.3%) to a preference for refined grains (7/15, 46.7%) or fibre-based restrictions (2/15, 13.3%). With regard to sugars and sweeteners, consensus was observed only for maltitol and sorbitol, which were classified as prohibited by all centres (15/15, 100%). Mannitol and isomalt were prohibited in 14/15 centres (93.3%). All other compounds showed variable recommendations across centres, including xylitol (prohibited 46.7%, permitted 40.0%), erythritol (permitted 60.0%), and sucralose (prohibited 33.3%, permitted 20.0%, restricted 20.0%, unspecified 26.7%). Vitamin C (100%) and folic acid (86.6%) were the most commonly prescribed supplements. One-third (33%) of the centres required the use of fibre supplements or osmotic laxatives to manage chronic constipation, with wide variability in the specific type of fibre recommended. Conclusions: These findings highlight substantial heterogeneity in dietary management of HFI across specialised Italian centres and support the development of evidence-based, standardised nutritional guidelines to improve the consistency of care, nutritional adequacy, and patient outcomes.

Background/Objectives: An imbalance in oxidative stress (OS) has been implicated in the pathogenesis of Inflammatory Bowel Disease (IBD). We compared OS status in IBD children and adults versus healthy controls by exploring variables impacting the OS disruption in IBD. Methods: Total antioxidant capacity (ferric-reducing ability of plasma (FRAP)), reactive species (ROS), oxidative products (advanced oxidation protein products (AOPPs) and thiobarbituric acid reactive substances (TBARSs)), and antioxidant defenses (glutathione, GSH and intracellular activity of the main antioxidant enzymes) were evaluated. Correlations between OS markers, clinical features, disease characteristics, and inflammatory indices were explored. Results: Eighty-two IBD patients (67.5% in clinical remission) and 73 healthy subjects were enrolled. IBD children showed significant FRAP reduction compared to controls and IBD adults (p < 0.0001), increased AOPPs and reduced GSH compared to controls (p < 0.0001 and p = 0.0011, respectively), higher total GSH (p = 0.020), and lower TBARSs (p = 0.023) compared to IBD adults. In the pediatric group, FRAP was significantly reduced in those with IBD and increased in older subjects and males, while AOPP levels were positively affected by increasing age. In the total IBD cohort, higher FRAP was associated with male gender, increasing age, overweight, and mesalazine therapy. The diagnosis of Ulcerative Colitis was associated with lower FRAP and AOPP levels compared to Crohn’s disease. Increased fecal calprotectin significantly decreased the total antioxidant capacity. Conclusions: The antioxidant system shows significant differences in IBD compared to controls, particularly in the pediatric group. The observed pediatric–adult pattern may suggest age-related differences in oxidative balance, but these findings should be interpreted with caution, given the modest sample size. Clinical Trial Registration Number: NCT04513015.

Inflammatory bowel disease (IBDs), including Crohn’s disease (CD), and ulcerative colitis (UC) are complex diseases with a multifactorial etiology, associated with genetic, dietetic, and other environmental risk factors. Children with IBD are at increased risk for nutritional inadequacies, resulting from decreased oral intake, restrictive dietary patterns, malabsorption, enhanced nutrient loss, surgery, and medications. Follow-up of IBD children should routinely include evaluation of specific nutritional deficits and dietetic and/or supplementation strategies should be implemented in case deficiencies are detected. This narrative review focuses on the prevalence, risk factors, detection strategy, and management of micronutrient deficiencies in pediatric IBD.

Metabolic bone disease (MBD) is a possible complication of intestinal failure (IF), with a multi-factorial pathogenesis. The reduction of bone density (BMD) may be radiologically evident before manifestation of clinical signs (bone pain, vertebral compression, and fractures). Diagnosis relies on dual-energy X-ray absorptiometry (DXA). Incidence and evolution of MBD are not homogeneously reported in children. The aim of this systematic review was to define the prevalence of MBD in IF children and to describe risk factors for its development. A comprehensive search of electronic bibliographic databases up to December 2021 was conducted. Randomized controlled trials; observational, cross-sectional, and retrospective studies; and case series published between 1970 and 2021 were included. Twenty observational studies (six case-control) were identified and mostly reported definitions of MBD based on DXA parameters. Although the prevalence and definition of MBD was largely heterogeneous, low BMD was found in up to 45% of IF children and correlated with age, growth failure, and specific IF etiologies. Data demonstrate that long-term follow-up with repeated DXA and calcium balance assessment is warranted in IF children even when PN dependence is resolved. Etiology and outcomes of MBD will be better defined by longitudinal prospective studies focused on prognosis and therapeutic perspectives.

Pregnancy is a delicate phase in woman's life that could become a risk factor for osteoporosis in pregnant women who do not meet recommended nutrient standards, especially for calcium and vitamin D. Mediterranean diet (MD) has been demonstrated to be beneficial for adequate nutrient intake. This article aims to evaluate the MD adherence and dietary calcium intake in a group of pregnant Italian women and to investigate how these are linked to each other and to fast glycemia at first trimester of pregnancy. Two hundred and seventy‐nine pregnant women were recruited at the gynecology units of two hospitals in Florence. Socio‐demographic, clinical information, and results of the first trimester blood sample analysis were collected. Two questionnaires, validated for evaluation of MD adherence and calcium intake, were administered to the pregnant women. Approximately 60% of the women had a high level of MD adherence, with a mean dietary calcium intake of 870.3 ± 335.3. In women with higher MD adherence level, fast glycemia resulted lower. Calcium intake was lower than Population Rate Intake for the Italian population (1,200 mg/daily) and was positively correlated to MD adherence score. The MD proved to be nutritious, as it was related to a higher calcium intake in this group of Italian women.

Osteoporosis represent a widespread public health problem. The management and prevention of osteoporosis and related low energy fractures start with a correct lifestyle and proper nutrition. Several different nutrients are essential for bone and mineral metabolism, especially calcium. Nevertheless, a well-balanced nutrition, such as Mediterranean diet (MD), proved to be beneficial for several chronic diseases and also fragility fractures resulted lower in the Mediterranean area. A prospective observational study in a population of two hundred peri- and post-menopausal women (aged 30–80 years) was developed at Careggi hospital, Florence. Both MD adherence and dietary calcium intake were evaluated in occasion of a “first visit” and a “follow-up” visit, through validated questionnaires. From a descriptive point of view, although not statistically significant, in both visits a slight increase in calcium intake was observed for high adherence to MD diet. Moreover, a short nutritional interview (20 min) was applied in our population and demonstrated to be sufficient to significantly improve MD adherence level (mean score at T₀ = 6.98 ± 1.74 and T₁ = 7.53 ± 1.68), opening promising paths in osteoporosis prevention.

Calcium is an essential element that plays numerous biological functions in the human body, of which one of the most important is skeleton mineralization. Bone is a mineralized connective tissue in which calcium represents the major component, conferring bone strength and structure. Proper dietary calcium intake is important for bone development and metabolism, and its requirement can vary throughout life. The mineral composition of drinking water is becoming relevant in the modulation of calcium homeostasis. In fact, calcium present in mineral drinking waters is an important quantitative source of calcium intake. This, together with its excellent bioavailability, contributes to the maintenance of the bone health. This article aims to examine studies that assessed the bioavailability of the calcium contained in calcium-rich mineral waters and their impact on bone health, including original data collected in a recent study in humans.

Water contributes significantly to health and a daily intake of 1.5 to 2 liters of water should be guaranteed, because a good hydration is essential to maintain the body water equilibrium, although needs may vary among people. However, worldwide population is far from the Recommended Allowance for water intake. Among the waters for human uses, there are 'waters (treated or not), intended for drinking, used for the food and beverages preparation or for other domestic purposes' and natural mineral waters, that are 'originated from an aquifer or underground reservoir, spring from one or more natural or bore sources and have specific hygienic features and, eventually, healthy properties'. According to the European Legislation (2009/54/EC Directive), physical and chemical characterization is used to make a classification of the different mineral waters, basing on the analysis of main parameters. Mineral composition enables to classify natural mineral waters as bicarbonate mineral waters, sulphate mineral waters, chloride mineral waters, calcic mineral waters, magnesiac mineral waters, fluorurate mineral waters, ferrous mineral waters and sodium-rich mineral waters. Although the concerns about bottled mineral waters (due to plasticizers and endocrine disruptors), many are the health effects of natural mineral waters and several studies explored their properties and their role in different physiological and pathological conditions.