Genotype and Phenotype of Adenosine Deaminase 2 Deficiency: a Report from Saudi Arabia.

Adenosine deaminase 2 deficiency (DADA2), a rare and potentially fatal systemic autoinflammatory disease, is characterized by low or lack of ADA2 activity due to ADA2 mutations. DADA2 symptoms are variable and include vasculitis, immunodeficiency, and cytopenia. Minimal data are available from Saudi Arabia. This retrospective study conducted at seven major tertiary medical centers examined the phenotypic and genotypic variabilities, clinical and diagnostic findings, and treatment outcomes among 20 Saudi patients with DADA2 from 14 families. The median age of the study cohort was 9.5 years (4-26 years). The clinical presentation was before the age of 5 months in 25% of patients. Homozygous c.1447-1451del mutation was the most frequent ADA2 alteration (40%), followed by c.882-2A:G (30%). All tested patients exhibited absent or near-absent ADA2 activity. Phenotypic manifestations included stroke (40%), hematological abnormalities (95%), lymphoproliferation (65%), and recurrent infection (45%). Five and three patients had extracranial vasculitis features and Hodgkin lymphoma, respectively. Atypical manifestations included growth retardation (30%) and transverse myelitis. Anti-tumor necrosis factor (anti-TNF) therapy was the main treatment. Some patients underwent blood transfusion, splenectomy, cyclosporine and colony-stimulating factor therapies, and hematopoietic stem cell transplantation due to anti-TNF therapy failure. Fulminant hepatitis and septic multiorgan failure caused mortality in three patients. Thus, this study revealed the variability in the molecular and clinical characteristics of DADA2 in the study cohort with predominant aberrant hematological and immunological characteristics. Consensus diagnostic criteria will facilitate early diagnosis and treatment. Additionally, disease registries or large prospective studies are needed for evaluating rare disease complications, such as cancer.

An Infant Presenting with Interstitial Lung Disease Diagnosed Later as Hunter Syndrome: A Case Report.

BACKGROUND Hunter syndrome is a multisystem metabolic inherited disease belonging to the large group of mucopolysaccharidoses (MPSs). Hunter syndrome is also known as MPS type II. Its association with respiratory symptoms has been well documented in the literature; however, it is uncommon that these patients initially present with diffuse lung disease and respiratory failure. Diffuse lung disease has a wide range of differential diagnoses that can overlap in some clinical and radiological aspects, making physicians struggle to quickly reach a final diagnosis. CASE REPORT We report a case of a full-term male infant who presented postnatally with progressive respiratory distress, hypoxemia, and radiologically-demonstrated ground-glass opacity and pneumothorax requiring mechanical ventilation and an extensive workup including CT scan of the chest, a flexible and rigid bronchoscopic examination of the airway with bronchoalveolar lavage, and whole-exome sequencing, which eventually resulted in a diagnosis of Hunter syndrome. After enzyme therapy was initiated, the patient showed marked improvement in clinical status and biological and imaging data and was weaned off oxygen a few months later. CONCLUSIONS The diagnostic approach for patients with diffuse lung disease is challenging and requires centers with expertise to reach a final diagnosis, especially in the presence of an unusual clinical presentation. The choice of the diagnostic approach can be influenced by factors such as the patient's critical condition, clinical presentation, imaging data, genetic analysis, and family decision.

Severe asthma in children: An official statement from Saudi Pediatric Pulmonology Association.

In Saudi Arabia, the prevalence of pediatric asthma ranges between 8% and 25%. However, there are no sufficient data regarding severe asthma in childhood in Saudi Arabia. Therefore, a task force has been formed by the Saudi Pediatric Pulmonology Association which is a subsidiary group of the Saudi Thoracic Society and consists of Saudi experts with well-respected academic and clinical backgrounds in the fields of pediatric asthma as well as other respiratory diseases to write a consensus on definitions, phenotypes, and pathophysiology, evaluation, and management. To achieve this, the subject was divided into various sections, each of which was assigned to at least 2 experts. Without a central literature review, the authors searched the literature using their own strategies. To reach an agreement, the entire panel reviewed and voted on proposed findings and recommendations.

Prevalence of obstructive sleep apnea in children with sickle cell disease at a tertiary hospital in Saudi Arabia.

OBJECTIVES: To assess the prevalence of obstructive sleep apnea in Saudi children with sickle cell disease at a tertiary hospital in Kingdom of Saudi Arabia (KSA) using nocturnal polysomnography. Methods: A prospective cross-section study was conducted between 2012 and 2016 in 65 children aged between 2-14 years at Prince Sultan Military Medical City, Riyadh, KSA with sickle cell disease. Patients answered a pediatric sleep questionnaire with the help of an accompanying caregiver and underwent polysomnography in the same night. Results: The final sample included 65 children. Median age was 8.1 years. There were 32 boys (49.2%) and 33 girls (50.8%). Mean hemoglobin was 8.6 (p=0.37) and mean body mass index was 15.6 (p=0.36). The prevalence of obstructive sleep apnea was 80% (52 patients) using an apnea hypopnea index cutoff of ≥1 and 7.7% (5 patients) using an apnea hypopnea index cutoff of ≥5. Results from the pediatric sleep questionnaire were snoring (73.8%), apnea (32.8%), and bedwetting (46%). Conclusion: Obstructive sleep apnea is common in children with sickle cell disease.

Awareness regarding childhood asthma in Saudi Arabia.

OBJECTIVE: Assessing the knowledge and awareness of the Saudi society about bronchial asthma in children. METHODS: Structured questionnaires were randomly distributed to 1039 Saudi Arabians in May 2014 at Jeddah, Riyadh, and Dammam. RESULTS: The awareness of bronchial asthma questions showed that 67% of total sample thought that it could be a fatal disease, and only 13.2% thought that there is a difference between bronchial asthma and chest allergies in children. 86.1% thought that the symptoms of bronchial asthma include dyspnea and nocturnal cough, and 45.7% thought that fever, a runny nose and throat inflammation are not symptoms. 60.2% thought that infectious respiratory diseases may increase bronchial asthma progression. In addition, 40% thought that the use of antibiotics doesn't help in diminishing bronchial asthma complications, and some thought that the patient can stop medication after an acute asthma attack. 34.1% thought that inhaled medication for asthma doesn't cause addiction. Very highly significant results are shown between bronchial asthma knowledge and age, the level of education, marital status, and if the individual knows a person who suffers from bronchial asthma (P < 0.001). There are positive correlations between bronchial asthma knowledge and age, marital status, and level of education (r = 0.152, 0.150, 0.197), respectively. CONCLUSION: The study demonstrated that bronchial asthma knowledge in the Saudi Arabian population is insufficient, and efforts should be carried out to spread bronchial asthma management.