Pediatric Allergy Immunology and Pulmonology最新文献

Background: Aquagenic urticaria (AU) is a rare form of physical urticaria, characterized by pruritic skin eruptions triggered by water exposure, irrespective of the water's temperature. Fewer than 100 cases have been documented. The wet towel provocation test is the diagnostic standard for AU. Case Presentation: A 12-year-old female patient presented with urticarial eruptions induced by water exposure and was diagnosed with AU following the wet towel provocation test. Initially, she tolerated brief water exposure; however, over time, eruptions occurred even with exposure to her sweat. Partial symptom control was achieved through preventive measures and antihistamine therapy. Conclusions: AU is a rare chronic condition that necessitates prompt diagnosis and tailored management strategies to improve the patient's quality of life.

Background: Butter and beef are often prejudicially forbidden for children affected by IgE-mediated cow's milk allergy (IgE-CMA). Methods: Children with IgE-CMA underwent prick-by-prick (PbP) test with clarified butter and normal butter, raw and cooked beef. In case of positivity of the PbP, an oral food challenge (OFC) with that food was proposed. Results: Thirty children with IgE-CMA were enrolled. Twenty-five (83%) introduced clarified butter into their diet; the remaining 5 did not want to do so. Fifteen patients (50%) were authorized to introduce normal butter into their diet; 1 patient (3%) was allergic to normal butter; for 14 patients (47%), allergy to normal butter remained uncertain. All 30 patients enrolled ate cooked beef without any problem. No one introduced raw or undercooked beef in his own diet for reasons of hygiene and taste. Conclusions: It is advisable to perform a PbP and eventually an OFC with normal butter, clarified butter, and cooked beef in any child affected by IgE-CMA.

Background: The lung is one of the organs that can be damaged in patients with thalassemia major (TM). In this study, we aimed to evaluate the pattern of lung impairment using various pulmonary tests and the effects of transfusion on pulmonary functions in patients with TM. Materials and Methods: The study was performed on patients 9-21 years of age prospectively. Spirometric tests, plethysmography, and CO diffusion tests were performed before and 2 h after erythrocyte transfusion. Patients also underwent a methacholine stimulation test 2 h after transfusion. Results: A total of 37 patients with TM were included in the study. There was no change in pretransfusion and post-transfusion spirometric test results. Plethysmographic tests revealed that both the median total lung capacity and the mean vital capacity values have decreased after transfusion. Medians of pretransfusion DLCO values significantly increased after transfusion. There was an impairment in diffusion in 16 (44.4%) patients, whereas it improved in 9 patients after transfusion. Bronchial hyperreactivity was detected in 10 out of 27 patients (37%) via methacholine stimulation test. There was obstructive airway disease in 20 patients (54%) out of 37 patients who had been tested. Conclusions: Patients with TM may have respiratory function abnormalities even while being asymptomatic. An obstructive airway pattern was the most common abnormality in our patient group. We revealed for the first time in the literature the presence and frequency of bronchial hypersensitivity in these patients using the methacholine stimulation test.

Background: RAS guanyl-releasing protein 1 (RASGRP1) deficiency is characterized by immune dysregulation and Epstein-Barr virus (EBV)-related lymphoproliferation. Diffuse mesangial sclerosis is one of the infrequent causes of infantile nephrotic syndrome. Case Presentation: Here, we described a 7-year-old girl who was diagnosed with diffuse mesangial sclerosis at 5 months old and subsequently developed chronic bilateral neck swelling at the age of 3 years. Clinical assessment and investigations revealed a complex clinical picture, including recurrent cervical lymphadenopathy and recurrent infections. Further evaluation revealed immunological deficiencies, autoimmune lymphoproliferative syndrome-like illness, chronic EBV infection, and ultimately Hodgkin lymphoma. Genetic testing identified a RASGRP1 homozygous loss-of-function variant with both parents being carriers. Conclusion: This is the first reported case of RASGRP1 deficiency in Malaysia, and we highlight the challenges clinicians face when the disease manifests in varied presentations.

Background: Tranexamic acid (TXA) is a medication used to treat or prevent excessive blood loss due to certain medical conditions. It has a low side effect profile and is safe to administer in most instances. Anaphylaxis cases due to intravenous TXA have been reported in the literature. We report the first pediatric case of anaphylaxis due to the use of nebulized TXA. Case Presentation: A 2-year-old boy with cerebral palsy, epilepsy, and tracheostomy was hospitalized with pneumonia. On the fourth day of hospitalization, the patient started bleeding from the trachea. Nebulized TXA was started to reduce tracheal bleeding. Anaphylaxis developed 5 min after administration of nebulized TXA. Subsequently, the patient was successfully treated with adrenaline, intravenous fluids, antihistamines, and steroids. Conclusion: Nebulized TXA is increasingly used off-label. Although it has a safe profile, side effects such as anaphylaxis may occur rarely. It is essential to recognize the symptoms of anaphylaxis when using nebulized TXA.

Electronic cigarettes are commonly misperceived as safe, hence the importance of health care providers understanding the harms of these devices. To date, there is substantial evidence of impaired immune defenses leading to increased risk for severe infections. Electronic cigarette users have increased respiratory symptoms, including bronchitis, cough, and wheeze. There is evidence of emphysema from electronic cigarette use in both laboratory mouse studies and population health surveys. There is evidence of increased cardiovascular disease from electronic cigarettes in both laboratory mouse models and population health surveys. There have been many cases of acute severe lung disease leading to hospitalization and death in electronic cigarette users; although most cases reported were associated with vitamin E acetate in tetrahydrocannabinol-containing products, some cases report exclusive use of nicotine-containing electronic cigarettes. Recently, constrictive bronchiolitis has been found in lung biopsies of electronic cigarette users with dyspnea. There are multiple carcinogenic chemicals in electronic cigarette emissions. Mouse models demonstrate increased rates of lung cancer and carcinogenic chemicals accumulate in the urine of human users. Neurotoxicity has been demonstrated in laboratory mouse models. There is concern about nicotine exposure adversely impacting brain development and serving as a gateway drug for other harmful drug use. Dual use of electronic and combustible cigarettes appears to be more harmful than the use of combustible cigarettes alone. Conclusion: Electronic cigarettes have substantial harms and are not a safe alternative to combustible tobacco use. It is important for health care providers to know these harms and counsel their patients.

Background: Interleukin-10 (IL-10) is a crucial anti-inflammatory cytokine essential for maintaining immune homeostasis, particularly in the gastrointestinal system. Defects in the IL-10 signaling pathway, including mutations in interlaukin-10 receptor (IL-10R) beta, have been implicated in early-onset inflammatory bowel disease (IBD), often resistant to conventional treatments. Case Presentation: We report a 1.5-month-old male patient with IL-10R beta deficiency presenting with fever, vomiting, malnutrition, and sepsis. Despite normal initial evaluations, persistent fever and elevated inflammatory markers prompted the initiation of anakinra, an interleukin-1 receptor antagonist. Genetic testing confirmed a homozygous deletion in the IL10RB gene. Anakinra led to significant clinical improvement, including weight gain and symptom resolution. The patient was enrolled in an allogeneic hematopoietic stem cell transplantation (HSCT) program and successfully received HSCT from an HLA-matched related donor. Discussion: IL-10R beta deficiency presents with severe and early-onset symptoms, often unresponsive to standard IBD therapies. Anakinra has shown promise in bridging to HSCT by reducing inflammation and improving clinical outcomes in patients with IL-10 pathway defects. This case highlights the effectiveness of anakinra as a treatment strategy in severe, refractory IBD associated with IL-10R beta deficiency and underscores the importance of genetic testing for accurate diagnosis and treatment planning. Conclusion: Anakinra may provide significant clinical benefits in patients with IL-10R beta deficiency, serving as a bridge to definitive treatment with HSCT. Early genetic diagnosis and targeted therapy are crucial for managing this challenging condition.