Adenosine triphosphate-binding cassette member A3 gene mutation in children from one family from Saudi Arabia

Mutation in ABCA3, which is adenosine triphosphate-binding cassette member A3, a member of protein transporter family for phospholipids into the lamellar bodies during synthesis of surfactant, can cause lung disease related to surfactant dysfunction with autosomal recessive pattern. We reported three cases from same family with ABCA3 mutation, their gene, clinical course, and outcomes mentioning that one patient had successful lung transplantation, one started the process of the lung transplantation while the third one died during infancy. We concluded that the patients with ABCA3 gene mutations are increasing in numbers may be due to the availability of the genetic testing and high index of suspicion among physicians. Lung transplantation is the definitive treatment, but availability is limited in our region

Pediatric sickle cell disease and obstructive sleep apnea: A cross-sectional study in a tertiary pediatric center in Saudi Arabia

Objective: The aim of the study was to evaluate snoring and obstructive sleep apnea (OSA) in Saudi children with sickle cell disease (SCD). Materials and Methods: This cross-sectional study was conducted among children with SCD attending a hematology clinic were recruited. Demographics, clinical data, and sleep questionnaires were collected and overnight polysomnographies performed. Results: Seventy children (31 of whom were females) with SCD were included in the study. Their median (interquartile) age was 9 (6.5, 11) years and their body mass index z-score was −1.2 (−2.0, −0.4). Seventy-four percent of SCD patients snored and 32 (46%) had evidence of OSA (obstructive apnea-hypopnea index [OAHI] ≥2 events per hour of sleep), 13 of whom had moderate OSA (OAHI ≥5 and <10 events per hour of sleep) and 10 had severe OSA (OAHI ≥10 events per hour of sleep). Conclusion: Snoring and the proportion of OSA were high in children with SCD. This underlines the importance of screening for OSA in all children with SCD

The Saudi Thoracic Society guidelines for diagnosis and management of noncystic fibrosis bronchiectasis

This is the first guideline developed by the Saudi Thoracic Society for the diagnosis and management of noncystic fibrosis bronchiectasis. Local experts including pulmonologists, infectious disease specialists, thoracic surgeons, respiratory therapists, and others from adult and pediatric departments provided the best practice evidence recommendations based on the available international and local literature. The main objective of this guideline is to utilize the current published evidence to develop recommendations about management of bronchiectasis suitable to our local health-care system and available resources. We aim to provide clinicians with tools to standardize the diagnosis and management of bronchiectasis. This guideline targets primary care physicians, family medicine practitioners, practicing internists and respiratory physicians, and all other health-care providers involved in the care of the patients with bronchiectasis

The Saudi Thoracic Society guidelines for diagnosis and management of noncystic fibrosis bronchiectasis

This is the first guideline developed by the Saudi Thoracic Society for the diagnosis and management of noncystic fibrosis bronchiectasis. Local experts including pulmonologists, infectious disease specialists, thoracic surgeons, respiratory therapists, and others from adult and pediatric departments provided the best practice evidence recommendations based on the available international and local literature. The main objective of this guideline is to utilize the current published evidence to develop recommendations about management of bronchiectasis suitable to our local health-care system and available resources. We aim to provide clinicians with tools to standardize the diagnosis and management of bronchiectasis. This guideline targets primary care physicians, family medicine practitioners, practicing internists and respiratory physicians, and all other health-care providers involved in the care of the patients with bronchiectasis