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1.
Paediatr Child Health ; 29(2): 122-132, 2024 May.
Artículo en Inglés, Inglés | MEDLINE | ID: mdl-38586489

RESUMEN

This practice point summarizes recommendations from the Canadian Thoracic Society's 2021 "Guideline update: Diagnosis and management of asthma in preschoolers, children, and adults." New recommendations include: a decrease in the frequency of daytime symptoms and reliever use to ≤2 per week in the asthma control criteria; assessing for risk of asthma exacerbation; not using as-needed short-acting beta-agonists alone in patients at higher risk for exacerbation; and the option of as-needed budesonide/formoterol (bud/form) in those ≥12 years old if they are unable to take daily inhaled corticosteroids despite extensive asthma education and support. The preference for daily inhaled corticosteroids to manage mild asthma in children, and the recommendation against intermittent short courses of inhaled corticosteroids, are unchanged.

2.
Paediatr Child Health ; 29(2): 122-132, 2024 May.
Artículo en Inglés, Inglés | MEDLINE | ID: mdl-38586494

RESUMEN

Le présent point de pratique résume la mise à jour des lignes directrices de la Société canadienne de thoracologie publiée en 2021 sur le diagnostic et la prise en charge de l'asthme chez les enfants d'âge préscolaire, les enfants et les adultes. Ces nouvelles recommandations incluent, parmi les critères de contrôle de l'asthme, une diminution de la fréquence des symptômes diurnes et de l'utilisation de médicaments pour soulager l'asthme à un maximum de deux fois par semaine. Elles comprennent également l'évaluation du risque d'exacerbation de l'asthme, la non-utilisation de bêta-agonistes à courte durée d'action seuls au besoin chez les patients à plus fort risque d'exacerbation et la possibilité d'administrer du budésonide-formotérol au besoin aux jeunes de 12 ans ou plus qui sont incapables de prendre des corticostéroïdes inhalés au quotidien malgré une éducation sur l'asthme et un soutien importants. La préférence pour la prise quotidienne de corticostéroïdes inhalés afin de traiter l'asthme léger chez les enfants et la recommandation d'éviter les courts traitements intermittents de corticostéroïdes inhalés ne changent pas.

3.
Paediatr Child Health ; 29(2): 98-103, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38586487

RESUMEN

Objectives: Asthma is a chronic lung condition that can be exacerbated when triggered by viruses. Pandemic public health restrictions aimed to reduce COVID-19 transmission indirectly effected other circulating viruses. This study assessed the impact of the pandemic and associated public health measures on acute paediatric asthma across four tertiary sites in three Canadian provinces. We queried whether pandemic-related changes would impair preventive care and delay presentation to care, increasing asthma exacerbation severity. Methods: This retrospective study compared the frequency of acute care access and severity of presentation to emergency departments (ED) for acute asthma to four tertiary care children's hospitals during the COVID-19 pandemic (from March 17, 2020 to June 30, 2021) to a pre-lockdown control period (July 1, 2018 to March 16, 2020). Data was subjected to interrupted time series and Chi-square analysis. Results: Our study included 26,316 acute asthma visits to ED. Sites experienced a 63% to 89% reduction in acute asthma visits during the pandemic, compared with pre-lockdown controls, and a 17% to 85% reduction in asthma, that is out of proportion as a fraction of all-cause ED visits. For asthma, there was no difference in severity measured by rate of ward admission or rate of Paediatric Intensive Care Unit (PICU) admission. Conclusions: Public health measures appear to have resulted in a specific protective association on acute asthma with reduced acute care utilization over and above the reduction in all-cause presentations, without an increase in severity upon presentation. Our study indicates an importance to antiviral public health and engineering strategies to reduce viral transmission and thereby asthma morbidity.

4.
J Cardiothorac Vasc Anesth ; 37(9): 1609-1617, 2023 09.
Artículo en Inglés | MEDLINE | ID: mdl-37263806

RESUMEN

OBJECTIVES: The development of new human leukocyte antigens (HLAs) and donor-specific antibodies (DSAs) in patients are associated with worse outcomes following lung transplantation. The authors aimed to examine the relationship between blood product transfusion in the first 72 hours after lung transplantation and the development of HLA antibodies, including DSAs. DESIGN: A retrospective observational study. SETTING: At a single academic tertiary center. PARTICIPANTS: Adult lung transplant recipients who underwent transplantation between September 2014 and June 2019. INTERVENTIONS: None. MEASUREMENTS AND MAIN RESULTS: A total of 380 patients were included in this study, and 87 (23%) developed de novo donor-specific antibodies in the first year after transplantation. Eighty-five patients (22%) developed new HLA antibodies that were not donor-specific, and 208 patients (55%) did not develop new HLA antibodies in the first year after transplantation. Factors associated with increased HLA and DSA development included donor pulmonary infection, non-infectious indication for transplant, increased recipient body mass index, and a preoperative calculated panel reactive antibody value above 0. Multivariate analysis identified platelet transfusion associated with an increased risk of de novo HLA antibody development compared to the negative group (odds ratio [OR; 95% CI] 1.18 [1.02-1.36]; p = 0.025). Cryoprecipitate transfusion was associated with de novo DSA development compared to the negative group (OR [95% CI] 2.21 [1.32-3.69] for 1 v 0 units; p = 0.002). CONCLUSIONS: Increased perioperative transfusion of platelets and cryoprecipitate are associated with de novo HLA and DSA development, respectively, in lung transplant recipients during the first year after transplantation.


Asunto(s)
Isoanticuerpos , Trasplante de Pulmón , Humanos , Adulto , Rechazo de Injerto , Donantes de Tejidos , Trasplante de Pulmón/efectos adversos , Estudios Retrospectivos , Antígenos HLA
5.
Paediatr Child Health ; 28(2): 72-74, 2023 May.
Artículo en Inglés | MEDLINE | ID: mdl-37151923

RESUMEN

Climate change-related extreme heat events leading to public health emergencies are increasing in Canada and expected to affect more regions, more frequently and for longer time periods. Children, city dwellers and marginalized populations are amongst the most vulnerable to morbidity and mortality related to extreme heat. Paediatricians can provide caregivers and families with advice to minimize risks as well as advocate for safer city planning and harm mitigation strategies.

6.
Paediatr Child Health ; 28(5): 275-277, 2023 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-37484031

RESUMEN

Background: Public and healthcare practitioner awareness of climate change and the longitudinal health impacts of air pollution is growing; however, it is not always clear how to implement practical and feasible steps that individuals and communities can take to help decrease air pollution and protect children, and it can be challenging to request and enforce behaviour changes that the public associates with perceived personal inconvenience. In this context, it is important to consider common, chronic exposures that increase children's risks, especially when straightforward solutions with minimal negative impact where significant evidence-based positive results are available. Aims: This article provides simple tips that healthcare providers, parents, and communities can use to advocate for decreased idling in school zones to improve air quality in and around schools.

7.
Paediatr Child Health ; 27(6): 324-326, 2022 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-36193162

RESUMEN

Surface disinfection is part of school protocols designed to decrease the risk of students and staff contracting COVID-19. However, exposure to disinfectants can have short- and long-term health consequences. Given that the risks are well-described and safer products are readily available, it is critical that schools consciously employ safer disinfection strategies.

8.
Clin Transplant ; 35(10): e14404, 2021 10.
Artículo en Inglés | MEDLINE | ID: mdl-34176163

RESUMEN

The perioperative transfusion of blood products has long been linked to development of acute lung injury and associated with mortality across both medical and surgical patient populations.1,2 The need for blood product transfusion during and after lung transplantation is common and, in many instances, unavoidable. However, this practice may potentially be modifiable.3 In this systematic review, we explore and summarize what is known regarding the impact of blood product transfusion on outcomes following lung transplantation, highlighting the most recent work in this area. Overall, the majority of the literature consists of single center retrospective analyses or the work of multicenter working groups referencing the same database. In the end, there are a number of remaining questions regarding blood product transfusion and their downstream effects on graft function and survival.


Asunto(s)
Transfusión Sanguínea , Trasplante de Pulmón , Humanos , Trasplante de Pulmón/efectos adversos , Estudios Multicéntricos como Asunto , Estudios Retrospectivos
9.
Attach Hum Dev ; 23(6): 931-952, 2021 12.
Artículo en Inglés | MEDLINE | ID: mdl-32799752

RESUMEN

The Circle of Security Intensive intervention (COS-I) aims to improve child attachment security and reduce disorganisation by improving caregiver capacities, including caregiving behavior and representations. Research on COS-I effectiveness with these goals is limited and none examines if positive changes are sustained. A recently revised hybrid COS-I protocol (COS-I-RH) incorporates Circle of Security-Parenting (COS-P) material and individual or group delivery options. We examined (1) post intervention and follow-up changes in caregiving behavior and representations after COS-I-RH and (2) if individual or group delivery moderated changes. New Zealand parent-child dyads with relationship concerns (n=36; child age M =35 months) referred to a community-based program completed COS-I-RH. Four caregiver capacities (supportive and unsupportive parenting (CTNES), parenting self-efficacy and satisfaction (PSOC)) were measured pre- and post-treatment, and one year later. Regardless of delivery mode, after COS-I-RH, parents showed large improvements on all 4 indices of caregiving behavior and representations, maintained at one-year follow-up.


Asunto(s)
Cuidadores , Apego a Objetos , Preescolar , Estudios de Seguimiento , Humanos , Nueva Zelanda , Relaciones Padres-Hijo , Responsabilidad Parental , Padres
10.
Paediatr Perinat Epidemiol ; 34(2): 150-160, 2020 03.
Artículo en Inglés | MEDLINE | ID: mdl-32010997

RESUMEN

BACKGROUND: Socio-economically deprived children face a disproportionate burden of respiratory diseases. The association between area-level material and social deprivation and emergency department (ED) visits and hospitalisations for paediatric respiratory diseases has not been explored. OBJECTIVES: We evaluated health inequalities in emergency department (ED) visits and hospitalisations for paediatric respiratory diseases according to material and social deprivation indexes. METHODS: This population-based retrospective cohort study deterministically linked birth, ED visits and hospitalisation data, and census-based, area-level deprivation indexes for all singleton children born in the province of Alberta, Canada, between 2005 and 2010 who had at least one recorded ED visit or hospitalisation for respiratory diseases in their first five years of life. We classified ED visits and hospitalisations for seven respiratory diseases by deprivation indexes. Concentration indexes (CInd) and area-level concentration curves measured health gradients across deprivation groups. Rate ratios (RR) evaluated associations between deprivation indexes and respiratory episodes of care. RESULTS: The study cohort included 198 572 newborns. The highest CInd were found in ED visits for other acute lower respiratory tract infections (oLRTI; CInd -0.22, 95% confidence interval [CI] -0.32, -0.12) and bronchiolitis (CInd -0.21, 95% CI -0.29, -0.12), and for pneumonia hospitalisations (CInd -0.23, 95% CI -0.33, -0.13). Croup ED visits had a low inequality degree. Compared to social deprivation, the material deprivation index presented a more consistent health gradient of increased episodes of care with increasing deprivation. oLRTI ED visits (RR 2.60, 95% CI 2.34, 2.92) and pneumonia hospitalisations (RR 2.57, 95% CI 2.31, 2.86) presented the largest inequalities between the least and most materially deprived groups. CONCLUSIONS: We found a concentration of ED visits and hospitalisations for paediatric respiratory diseases in the most deprived groups. However, health inequalities are present across the material and social deprivation spectrum. Compared to the social deprivation index, the material index presented clearer paediatric respiratory health gradients.


Asunto(s)
Bronquiolitis , Servicio de Urgencia en Hospital/estadística & datos numéricos , Hospitalización/estadística & datos numéricos , Neumonía , Factores Socioeconómicos , Alberta/epidemiología , Bronquiolitis/epidemiología , Bronquiolitis/terapia , Salud Infantil/estadística & datos numéricos , Preescolar , Femenino , Disparidades en Atención de Salud , Humanos , Lactante , Recién Nacido , Masculino , Neumonía/epidemiología , Neumonía/terapia , Estudios Retrospectivos , Medición de Riesgo/métodos , Factores de Riesgo
12.
Paediatr Child Health ; 28(1): 1-2, 2023 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-36865760
13.
A A Pract ; 18(1): e01740, 2024 Jan 01.
Artículo en Inglés | MEDLINE | ID: mdl-38259135

RESUMEN

We present a case report of a consult for a gynecologic patient who presented with unrelenting postsurgical pain and previously underwent laparoscopic surgery. Given the pain distribution, we hypothesized the patient had an ilioinguinal or iliohypogastric nerve entrapment injury. We performed a diagnostic and therapeutic ilioinguinal and iliohypogastric nerve block, alleviating the patient's pain. The patient returned to the operating room to release a fascial stitch, permanently relieving the pain. This is a reminder that anesthesiologists can use regional anesthesia for both diagnosis and treatment.


Asunto(s)
Anestesia de Conducción , Bloqueo Nervioso , Femenino , Humanos , Anestesiólogos , Fascia , Dolor Postoperatorio/diagnóstico
14.
Allergy Asthma Clin Immunol ; 20(1): 30, 2024 Apr 10.
Artículo en Inglés | MEDLINE | ID: mdl-38600554

RESUMEN

PURPOSE: Immunoglobulin replacement therapy is a standard treatment for patients with antibody production deficiencies, which is of interest in patients with chronic obstructive pulmonary disease (COPD). This systematic review, registered with PROSPERO (CRD42021281118), assessed the current literature regarding immunoglobulin replacement therapy on COPD clinical outcomes in patients with low immunoglobulin G (IgG) serum concentrations. METHODS: Literature searches conducted from inception to August 23, 2021, in databases including MEDLINE, EMBASE, and CINAHL. Population (sex, age, comorbidities), baseline clinical characteristics (pulmonary function testing results, IgG levels), and outcome (hospitalizations, emergency department visits) were extracted after title/abstract and full text screening. The Cochrane risk of bias assessment form was used for risk of bias assessment of randomized controlled trials and the National Heart, Lung, and Blood Institute (NHLBI) assessment was used for pre and post studies. RESULTS: A total of 1381 studies were identified in the preliminary search, and 874 records were screened after duplicates were removed. Screening 77 full texts yielded four studies that were included in the review. CONCLUSION: It is unclear whether immune globulin replacement therapy reduces acute exacerbation frequency and severity in COPD. Current evidence suggests that it is worth considering, but better developed protocols for administration of immune globulin supplementation is required for future randomized controlled trials.

15.
Ann Am Thorac Soc ; 21(3): 365-376, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38426826

RESUMEN

Indoor sources of air pollution worsen indoor and outdoor air quality. Thus, identifying and reducing indoor pollutant sources would decrease both indoor and outdoor air pollution, benefit public health, and help address the climate crisis. As outdoor sources come under regulatory control, unregulated indoor sources become a rising percentage of the problem. This American Thoracic Society workshop was convened in 2022 to evaluate this increasing proportion of indoor contributions to outdoor air quality. The workshop was conducted by physicians and scientists, including atmospheric and aerosol scientists, environmental engineers, toxicologists, epidemiologists, regulatory policy experts, and pediatric and adult pulmonologists. Presentations and discussion sessions were centered on 1) the generation and migration of pollutants from indoors to outdoors, 2) the sources and circumstances representing the greatest threat, and 3) effective remedies to reduce the health burden of indoor sources of air pollution. The scope of the workshop was residential and commercial sources of indoor air pollution in the United States. Topics included wood burning, natural gas, cooking, evaporative volatile organic compounds, source apportionment, and regulatory policy. The workshop concluded that indoor sources of air pollution are significant contributors to outdoor air quality and that source control and filtration are the most effective measures to reduce indoor contributions to outdoor air. Interventions should prioritize environmental justice: Households of lower socioeconomic status have higher concentrations of indoor air pollutants from both indoor and outdoor sources. We identify research priorities, potential health benefits, and mitigation actions to consider (e.g., switching from natural gas to electric stoves and transitioning to scent-free consumer products). The workshop committee emphasizes the benefits of combustion-free homes and businesses and recommends economic, legislative, and education strategies aimed at achieving this goal.


Asunto(s)
Contaminantes Atmosféricos , Contaminación del Aire Interior , Contaminación del Aire , Humanos , Niño , Estados Unidos , Contaminación del Aire Interior/efectos adversos , Contaminación del Aire Interior/prevención & control , Contaminación del Aire Interior/análisis , Gas Natural , Monitoreo del Ambiente , Contaminación del Aire/efectos adversos , Contaminación del Aire/prevención & control , Contaminación del Aire/análisis , Contaminantes Atmosféricos/efectos adversos , Contaminantes Atmosféricos/análisis , Material Particulado/análisis
16.
Artículo en Inglés | MEDLINE | ID: mdl-36767304

RESUMEN

Wildfires are increasing yearly in number and severity as a part of the evolving climate crisis. These fires are a significant source of air pollution, a common driver of flares in cardiorespiratory disease, including asthma, which is the most common chronic disease of childhood. Poorly controlled asthma leads to significant societal costs through morbidity, mortality, lost school and work time and healthcare utilization. This retrospective cohort study set in Calgary, Canada evaluates the relationship between asthma exacerbations during wildfire smoke events and equivalent low-pollution periods in a pediatric asthma population. Air pollution was based on daily average levels of PM2.5. Wildfire smoke events were determined by combining information from provincial databases and local monitors. Exposures were assumed using postal codes in the health record at the time of emergency department visits. Provincial claims data identified 27,501 asthma exacerbations in 57,375 children with asthma between 2010 to 2021. Wildfire smoke days demonstrated an increase in asthma exacerbations over the baseline (incidence rate ratio: 1.13; 95% CI: 1.02-1.24); this was not seen with air pollution in general. Increased rates of asthma exacerbations were also noted yearly in September. Asthma exacerbations were significantly decreased during periods of COVID-19 healthcare precautions.


Asunto(s)
Contaminantes Atmosféricos , Contaminación del Aire , Asma , COVID-19 , Incendios Forestales , Humanos , Niño , Humo/efectos adversos , Estudios Retrospectivos , Exposición a Riesgos Ambientales/efectos adversos , Contaminación del Aire/efectos adversos , Asma/epidemiología , Contaminantes Atmosféricos/análisis , Material Particulado/análisis
17.
BMJ Open Respir Res ; 10(1)2023 09.
Artículo en Inglés | MEDLINE | ID: mdl-37748808

RESUMEN

BACKGROUND: Preventing poor childhood asthma control is crucial for short-term and long-term respiratory health. This study evaluated associations between perinatal and early-life factors and early childhood asthma control. METHODS: This retrospective study used administrative health data from mothers and children born 2010-2012 with a diagnosis of asthma before age 5 years, in Alberta, Canada. The outcome was asthma control within 2 years after diagnosis. Associations between perinatal and early-life factors and risk of partly and uncontrolled asthma were evaluated by multinomial logistic regression. RESULTS: Of 7206 preschoolers with asthma, 52% had controlled, 37% partly controlled and 12% uncontrolled asthma 2 years after diagnosis. Compared with controlled asthma, prenatal antibiotics (adjusted risk ratio (aRR): 1.19; 95% CI 1.06 to 1.33) and smoking (aRR: 1.18; 95% CI 1.02 to 1.37), C-section delivery (aRR: 1.11; 95% CI 1.00 to 1.25), summer birth (aRR: 1.16; 95% CI 1.00 to 1.34) and early-life hospitalisation for respiratory illness (aRR: 2.24; 95% CI 1.81 to 2.76) increased the risk of partly controlled asthma. Gestational diabetes (aRR: 1.41; 95% CI 1.06 to 1.87), C-section delivery (aRR: 1.18; 95% CI 1.00 to 1.39), antibiotics (aRR: 1.32; 95% CI 1.08 to 1.61) and hospitalisation for early-life respiratory illness (aRR: 1.65; 95% CI 1.19 to 2.27) were associated with uncontrolled asthma. CONCLUSION: Maternal perinatal and early-life factors including antibiotics in pregnancy and childhood, gestational diabetes, prenatal smoking, C-section and summertime birth, and hospitalisations for respiratory illness are associated with partly or uncontrolled childhood asthma. These results underline the significance of perinatal health and the lasting effects of early-life experiences on lung development and disease programming.


Asunto(s)
Asma , Diabetes Gestacional , Niño , Femenino , Embarazo , Humanos , Preescolar , Estudios Retrospectivos , Antibacterianos/uso terapéutico , Asma/epidemiología , Asma/prevención & control , Canadá
18.
Artículo en Inglés | MEDLINE | ID: mdl-35742325

RESUMEN

Secondhand smoke (SHS) exposure increases the prevalence and severity of sinopulmonary diseases in children. The primary source of SHS exposure in children is through adults who live in the same house; however, the level of exposure may vary based on the adult smoking habits at home. This prospective cross-sectional study in Alberta, Canada, investigated the relationship between self-reported caregiver smoking, location, outdoor temperature and children's' urine cotinine: creatinine ratio (CCR), a marker of nicotine metabolism. Participants aged 0−9 were recruited from the Child Health Clinics at the Misericordia Community Hospital in Edmonton, Alberta, from 8 January to 24 February 2016 and 30 June to 18 August 2016. Participant CCR levels were compared to caregiver-reported smoking location and environmental factors such as temperature and season. Of the 233 participants who reported smoking status, 21% reported smoking, in keeping with local smoking rates. More participants smoked indoors during the winter than the summer; however, some families limited indoor smoking to a garage. Of the 133 parent−child dyads who provided smoking information and a child urine sample, 18 had an elevated cotinine:creatinine ratio, suggestive of significant tobacco smoke exposure, 15 of whom were from homes that reported smoking. Age < 1 year and number of cigarettes smoked in the home weekly were risks for significant exposure while season, outdoor temperature and smoking location in the home did not reach significance. Smokers should be counseled to protect children, particularly infants, from exposure by limiting the number of cigarettes smoked and isolating smoking to outside the home. Segregated areas such as a garage may provide a useful harm mitigation strategy for indoor smokers, provided the garage does not share ventilation or is not in close proximity to high-traffic areas of the home.


Asunto(s)
Cotinina , Contaminación por Humo de Tabaco , Adulto , Alberta/epidemiología , Cotinina/orina , Creatinina , Estudios Transversales , Exposición a Riesgos Ambientales/análisis , Humanos , Lactante , Estudios Prospectivos , Contaminación por Humo de Tabaco/análisis
19.
Pediatr Pulmonol ; 57(6): 1401-1415, 2022 06.
Artículo en Inglés | MEDLINE | ID: mdl-35355450

RESUMEN

Inducible laryngeal obstruction (ILO) in children is underrecognized. This systematic review characterizes the scientific evidence on the impact of pediatric ILO diagnosis and treatment on asthma medication use. This review, registered with PROSPERO (CRD42020209168), utilized database searches in MEDLINE, EMBASE, CINAHL, and Web of Science from inception to October 2020. Both experimental and observational studies on ILO and asthma outcomes in patients ≤18 years were included. Population characteristics (sample size, sex, age, and comorbidities) and study outcomes (medication usage and respiratory symptoms) were extracted. The risk of bias was assessed with the National Toxicology Program's Office of Health Assessment and Risk of Bias Rating Tool. Data are presented narratively due to study heterogeneity. Of 1091 studies, 1076 titles and abstracts were screened after duplicate removal. Screening 31 full texts yielded eight pre-post studies. Patients were an average of 14.1 years old, 15% male, and >90% used asthma medication; 40% reported allergies, 30% gastroesophageal reflux, and 20% anxiety or depression. Most patients received at least one intervention, with 75% showing symptomatic improvement and >75% decreasing or stopping asthma medications. Studies were small with a high risk of selection, confounding, and detection bias. Asthma management was not a primary outcome in any of the studies. Overall, ILO patients were often diagnosed with or treated for asthma before ILO diagnosis. Evidence from individual studies suggests that comorbidities including ILO, gastroesophageal reflux, allergies, and anxiety should be considered in pediatric patients with asthma not responsive to medical therapy. Further research is required to determine the proportion of impacted asthma patients.


Asunto(s)
Obstrucción de las Vías Aéreas , Asma , Reflujo Gastroesofágico , Enfermedades de la Laringe , Adolescente , Obstrucción de las Vías Aéreas/diagnóstico , Asma/diagnóstico , Asma/tratamiento farmacológico , Asma/epidemiología , Niño , Femenino , Humanos , Enfermedades de la Laringe/diagnóstico , Masculino , Síndrome
20.
BMJ Case Rep ; 14(3)2021 Mar 31.
Artículo en Inglés | MEDLINE | ID: mdl-33789861

RESUMEN

Argininosuccinate lyase (ASL) deficiency is a rare autosomal recessive urea cycle disorder. The severe neonatal-onset form is characterised by hyperammonaemia in the first days of life and manifests with a variety of severe symptoms. However, an index of suspicion for additional or alternative diagnoses must be maintained when the patient's presentation is out of keeping with expected manifestations and course. We present a case of a neonate with ASL deficiency and concomitant hypotonia, severe respiratory distress, pulmonary hypertension, systemic hypotension and congenital hypothyroidism. The patient was investigated and subsequently diagnosed with brain-lung-thyroid syndrome, caused by a mutation in the NKX2-1 gene.


Asunto(s)
Aciduria Argininosuccínica , Corea , Hipotiroidismo Congénito , Aciduria Argininosuccínica/diagnóstico , Aciduria Argininosuccínica/genética , Atetosis , Humanos , Recién Nacido , Síndrome de Dificultad Respiratoria del Recién Nacido
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