Characteristics of Pediatric Emergency Department Presentations of Anaphylaxis in Spain.

OBJECTIVE: This study aimed to identify the triggers of pediatric anaphylaxis in Spain and to analyze the circumstances of the episode. METHODS: Planned secondary analysis of a prospective observational multicenter study endorsed by the Spanish Society of Pediatric Emergencies including children aged younger than 18 years diagnosed with anaphylaxis in 7 Spanish pediatric emergency departments (EDs) between 2016 and 2018. We analyzed factors related to the anaphylaxis episode and its management. RESULTS: Four hundred fifty-three cases were registered, happening mainly at home (295 [65.1%]), school (65 [14.3%]), and street (61 [13.5%]). The median age was 5 years, 143 (31.6%) had previous episodes, and 165 (36.4%) had previously been prescribed an epinephrine autoinjector, used in 40 (24.2% of those prescribed). Two thirds were well-appearing when arriving to the pediatric ED. Food was the trigger in 396 (87.4%). In 349 with a single food involved, the most frequent were milk (108 [30.4%]), nuts (103 [29.0%]), hen's egg (40 [11.3%]), and fish (31 [8.7%]), with variations related to the age of the child. CONCLUSIONS: Food, especially milk and nuts, are responsible for most anaphylaxis diagnosed in Spanish pediatric EDs. Consideration should be given to improving health education due to the low use of epinephrine autoinjectors.

Importance of Timely Treatment Initiation in Infantile-Onset Pompe Disease, a Single-Centre Experience.

Classic infantile Pompe disease (IPD) is a rare lysosomal storage disorder characterized by severe hypertrophic cardiomyopathy and profound muscle weakness. Without treatment, death occurs within the first 2 years of life. Although enzyme replacement therapy (ERT) with alglucosidase alfa has improved survival, treatment outcome is not good in many cases and is largely dependent on age at initiation. The objective of the study was (a) to analyse the different stages in the diagnosis and specific treatment initiation procedure in IPD patients, and (b) to compare clinical and biochemical outcomes depending on age at ERT initiation (<1 month of age vs. <3 months of age). Here, we show satisfactory clinical and biochemical outcomes in two IPD patients after early treatment initiation before 3 months of life with immunomodulatory therapy in the ERT-naïve setting, with a high ERT dose from the beginning. Despite the overall good evolution, the patient who initiated treatment <1 month of life presented even better outcomes than the patient who started treatment <3 months of life, with an earlier normalization of hypertrophic cardiomyopathy, along with CK normalization, highlighting the importance of early treatment initiation in this progressive disease before irreversible muscle damage has occurred.

Urine Phenylacetylglutamine Determination in Patients with Hyperphenylalaninemia.

Phenylketonuria (PKU), an autosomal-recessive inborn error of phenylalanine (Phe) metabolism is the most prevalent disorder of amino acid metabolism. Currently, clinical follow-up relies on frequent monitoring of Phe levels in blood. We hypothesize that the urine level of phenylacetylglutamine (PAG), a phenyl-group marker, could be used as a non-invasive biomarker. In this cross-sectional study, a validated liquid chromatography coupled to tandem mass spectrometry (LC-MS) method was used for urinary PAG quantification in 35 participants with hyperphenylalaninemia (HPA) and 33 age- and sex-matched healthy controls. We have found that (a) PKU patients present higher urine PAG levels than healthy control subjects, and that (b) there is a significant correlation between urine PAG and circulating Phe levels in patients with HPA. In addition, we show a significant strong correlation between Phe levels from venous blood samples and from capillary finger-prick dried blood spot (DBS) samples collected at the same time in patients with HPA. Further research in order to assess the potential role of urine PAG as a non-invasive biomarker in PKU is warranted.

Risk Factors for Severe Anaphylaxis in Children.

OBJECTIVE: To identify risk factors associated with severe anaphylaxis in children. STUDY DESIGN: We carried out a multicenter prospective observational study including children less than 18 years old diagnosed with anaphylaxis in 7 Spanish pediatric emergency departments (EDs) between May 2016 and April 2018. Children were considered to have severe anaphylaxis if they met one or more of the following criteria: requirement for 2 or more doses of epinephrine, clinically important biphasic reaction, endotracheal intubation, intensive care unit admission, and/or death. RESULTS: We included 453 episodes of anaphylaxis. Of these, 61 were classified as severe anaphylaxis (13.5%, 95% CI [10.6-16.9]): 53 (11.7%) required more than 1 dose of epinephrine, and there were 14 (3.1%) cases of clinically important biphasic reactions, 2 (0.4%) intubations in the ED, and 6 (1.3%) admissions to the intensive care unit. No patients died. In the multivariable regression, we identified 5 independent risk factors for severe anaphylaxis: history of asthma (P = .002; OR 2.705, 95% CI [1.431-5.113]), onset of the symptoms less than 5 minutes after the allergen exposure (P = .002; OR 2.619, 95% CI [1.410-4.866]), non-well appearance (P = .005; OR 2.973, 95% CI [1.380-6.405]), tachycardia (P = .014; OR 2.339, 95% CI [1.191-4.959]), and hypotension (P = .036; OR 3.725, 95% CI [1.087-12.762]). CONCLUSIONS: Childhood anaphylaxis is usually well controlled in the ED. Children with a history of asthma, rapid onset of the symptoms, who are non-well appearing, or have tachycardia or hypotension upon arrival to the ED are more likely to have severe episodes.

Management of anaphylaxis in Spain: pediatric emergency care providers' knowledge.

BACKGROUND: Acute care providers must diagnose and treat patients with anaphylaxis. The objective was to analyze Spanish pediatric emergency departments' (ED) providers' knowledge of the international recommendations for the management of anaphylaxis. METHODS: A web-based survey including providers (both attending and residents) from seven Spanish pediatric EDs was conducted. To analyze the knowledge of the identification of anaphylaxis, we used the diagnostic criteria given by the National Institute of Allergy and Infectious Disease and Food Allergy and the Food Allergy and Anaphylaxis Network (2005). To analyze the management, we used the practical recommendations on the management of anaphylaxis published by the Joint Task Force on Practice Parameters (2014). RESULTS: A total of 425 physicians received the link and 337 (79.2%) completed the survey (138 attending, 76.6%; 199 residents, 81.2%, P<0.05). More than 90% of the providers correctly identified the anaphylaxis, except for not diagnosing it when reduced blood pressure is detected after exposure to a known allergen (69.7%) and misdiagnosis of anaphylaxis in patients with progressive urticaria with significant angioedema (65.9%). Nearly 100% identified epinephrine as the first-line treatment. Main failures of treatment were related to the position of the patient, the effect of medications in preventing a biphasic reaction, the recommended time to observe patients, and those related to the follow-up. No significant differences were found between attendings and residents. CONCLUSION: Even though the Spanish pediatric ED providers' knowledge of the management of anaphylaxis is good, certain improvement areas are identified in both the identification and the management of these patients.

Retroperitoneal fibrosis: role of imaging in diagnosis and follow-up.

Retroperitoneal fibrosis (RPF) encompasses a range of diseases characterized by proliferation of aberrant fibroinflammatory tissue, which usually surrounds the infrarenal portion of the abdominal aorta, inferior vena cava, and iliac vessels. This process may extend to neighboring structures, frequently entrapping and obstructing the ureters and eventually leading to renal failure. The idiopathic form of RPF accounts for more than two-thirds of cases; the rest are secondary to factors such as drug use, malignancies, or infections. If promptly diagnosed and treated, idiopathic and most other benign forms of RPF have a good prognosis. In contrast, malignant RPF, which accounts for up to 10% of cases, has a poor prognosis. Therefore, the most important diagnostic challenge is differentiation of benign from malignant RPF. Imaging plays a key role in diagnosis of RPF. Cross-sectional imaging studies, particularly multidetector computed tomography (CT) and magnetic resonance (MR) imaging, are considered the imaging modalities of choice. Imaging features may help distinguish between benign and malignant RPF, but in some cases histopathologic examination of the retroperitoneal tissue is needed for definitive diagnosis. CT and MR imaging, along with positron emission tomography with fluorine 18 fluorodeoxyglucose, also play an important role in management and follow-up of idiopathic RPF.