Background Oral immunotherapy (OIT) is a promising therapeutic approach for children with persistent IgE‐mediated cow's milk allergy (CMA) but data are still limited. Objective To analyze the prevalence of life‐threatening anaphylaxis in children with persistent CMA undergoing OIT and to evaluate potential risk factors. Methods This is a retrospective cohort study among children with persistent CMA undergoing OIT over a 20‐year period, following a specific Oral Tolerance Induction protocol. Adverse reactions during the whole period and data on long‐term outcome were registered. Descriptive and nondescriptive statistics were used to describe data. Results Three hundred forty‐two children were evaluated. During OIT, 12 children (3.5%) presented severe anaphylactic reactions that needed an adrenaline injection. None required intubation, intensive care unit (ICU) admission, or showed a fatal outcome. Five of them abandoned OIT, five reached unrestricted diet and the others are still undergoing OIT. As far as outcome is concerned, 51.2% reached an unrestricted diet; 13.5% are at the build‐up stage; and 28.0% (97 patients) stopped the OIT. Among these 96 children, 6.3% experienced a severe reaction induced by accidental ingestion of milk with two fatal outcomes. Conclusions The risk of life‐threatening reactions was nearly two times lower (3.5% vs. 6.3%) among patients assuming milk during OIT than in those who stopped the protocol. A trend in favor of more severe reactions, requiring ICU admission, or fatal, was shown in patients who stopped OIT.
Background: Bile acid synthesis disorders are rare congenital diseases which, if untreated, can lead to cirrhosis and end-stage liver disease. Cholic acid administration is the only treatment which can prevent patients from fatal outcomes. Since 2013 in Europe there is just one formulation of cholic acid: Orphacol®. It is difficult to administer to infant patients because of its formulation (capsules) and the need for dose titration in relation to the patient’s weight. Case presentation: Two sisters affected by 3-β-hydroxy-Δ-5-C27-steroid dehydrogenase deficiency showed soon after birth failure to thrive, cholestasis and fat-soluble vitamin deficiency. Cholestasis and an initial liver damage were confirmed by both biochemical findings and liver biopsies. Patients were treated for eight years with a liquid formulation of cholic acid galenic compound and then they started to be treated with capsules of the registered drug. Clinical conditions and biochemical findings were checked periodically during both therapies. Conclusion: Clinical and laboratory data showed no differences between the cholic acid galenic compound and the registered drug in terms of both efficacy and safety. Furthermore, the galenic compound showed benefits of more manageable dose titration, easier intake due to its liquid formulation, and lower costs than commercial cholic acid capsules.
Background: Children with medical complexity need complex assistance, that considerably affects caregivers’ quality of life. They often need multiple medications, with a consequent relevant risk of errors or poor compliance. Galenic (or compounded) drugs are blended in the pharmacy’s laboratory worldwide according to different rules and tailoring the patient’s needs. While their use may sometimes simplify these therapies, little is known about parents’ attitude about this issue. Aim: This study aimed at investigating the complexity of the daily therapy management and exploring the parents’ opinions about galenic compounds. Design: Parents were interviewed by using a structured questionnaire. Setting: Children followed by the Pediatric Palliative Care Network in Friuli Venezia Giulia, Italy, were included from November 2021 to April 2022. Those diagnosed with malignancies were excluded, since therapies are mainly administered through a central venous catheter. Results: Thirty-four parents were interviewed. Fourteen patients took drugs orally, one via nasogastric tube (NGT), 18 via gastrostomy, and one orally + NGT. The mean number of drugs taken every day was six (2–14), in mean 10 (3–18) administrations, that overall required a mean of 44 (8–180) minutes to be delivered. Twenty-eight parents used galenic compounds, and 24 reported relevant advantages, because of a ready-to-use and safe formulation. Conclusions: The therapy management of children with medical complexity relies on parents. Galenic compounds may improve both patients’ and caregivers’ quality of life, either in terms of shorter time of administration or smaller risk of errors. Therefore, their use should be encouraged worldwide, according to the different reference rules.
Inborn errors of immunity (IEI) associated with immune dysregulation are not sufficiently addressed in shared recommendation, resulting in delayed diagnosis and high morbidity. The availability of precision medicine for some of these immune defects makes it urgent to evaluate effective strategies to diagnose and treat such defects before the occurrence of severe complications. A diagnosis of an IEI in these patients enabled the use of a more specific treatment in most cases, and these have the potential to prevent further disease progression. We studied immune dysregulation diseases in 30 patients with autoimmune or allergic phenotypes, exploiting data from clinics and immunophenotype, genetic and transcriptome investigations, and 6 of them were diagnosed with a monogenic disorder. Our results confirm that a non-negligible number of children with IEIs may present with signs and symptoms of immune dysregulation and share many features with common multifactorial immune conditions. Reaching a genetic diagnosis becomes more likely in the presence of multiple clinical manifestations, especially when in association with abnormalities of lymphocytes subsets and/or immunoglobulins levels. Moreover, 5 of 6 patients that obtained a diagnosis of monogenic disorder received precision therapy, in four cases with a good or moderate response.
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