Clinical and molecular characteristics of primary ciliary dyskinesia: A tertiary care centre experience.

BACKGROUND: Primary ciliary dyskinesia (PCD) is a ciliopathy with diverse clinical and genetic findings caused by abnormal motile cilia structure and function. In this study, we describe the clinical characteristics of confirmed PCD cases in our population and report the radiological, genetic, and laboratory findings. METHODS: This was a retrospective, observational, single-centre study. We enrolled 18 patients who were diagnosed with confirmed PCD between 2015 and 2019. We then analyzed their data, including clinical findings and workup. RESULTS: In our cohort, 56% of patients had molecularly confirmed PCD, and RSPH9 was the most common gene identified. Transmission electron microscopy (TEM) showed an ultrastructural defect in 64% of samples, all of which matched the genetic background of the patient. Situs inversus (SI) was observed in 50% of patients, and congenital heart disease was observed in 33%. The median body mass index (BMI) was 15.87 kg/m2, with a median z score of -1.48. The median FEV1 value was 67.6% (z score - 2.43). Radiologically, bronchiectasis was noted in 81% of patients at a variable degree of severity. Lung bases were involved in 91% of patients. We were unable to correlate the genotype-phenotype findings. CONCLUSION: We describe the clinical and molecular characteristics of patients with confirmed PCD in a tertiary centre in Saudi Arabia and report 9 new pathogenic or likely pathogenic variants in one of the PCD-associated genes.

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.

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.

Flexible bronchoscopy in children: Utility and complications.

BACKGROUND AND OBJECTIVES: The flexible bronchoscope has become widely used by pediatric pulmonologists as a diagnostic and therapeutic tool. Nevertheless, there are several gaps in our knowledge to help refine its use and reduce its complications. In this study, we aimed to evaluate the utility and complications of pediatric bronchoscopy. DESIGN AND SETTING: We conducted a retrospective review of bronchoscopy cases between March 2006 and April 2015 at a tertiary care medical center (King Fahad Medical City). One-hundred forty nine patients were studied. PATIENTS AND METHODS: We evaluated how bronchoscopy contributed to the patients' diagnosis, assessed the accuracy of bronchoalveolar lavage white blood cell count (BAL WBC) to differentiate between infectious and non-infectious conditions, assessed the ability of clinical factors to predict high risk of desaturation during bronchoscopy, and finally summarized the reported procedural complications. RESULTS: We found pediatric bronchoscopy was a crucial diagnostic (confirming, ruling out, and discovering unexpected diagnosis) and therapeutic tool. The accuracy of BAL WBC counts is poor (AUC (95% CI) = 0.609 (0.497-0.712)); however, using two cutoff values (≤10 WBCs (sensitivity = 84.44% and specificity = 29.27%) to rule out, and ≥400 WBCs (sensitivity = 33.33% and specificity 81.49%) to rule in infection) helped in early differentiation between infectious and non-infectious conditions. From the factors that we test, none we found predictive of desaturation. The most common procedural complication was desaturation (pooled incidence (95% CI) = 13 (8-19)%) followed by cough, mild airway bleeding, and spasm. CONCLUSIONS: Flexible bronchoscopy is an important and relatively safe diagnostic and therapeutic tool in pediatric medicine, and utilization of this service should be encouraged after a careful consideration of which patient needs this procedure and a rigorous estimate of its pros and cons.