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.

Lung disease associated with filamin A gene mutation: a case report.

BACKGROUND: Mutations in the gene encoding filamin A (FLNA) lead to diseases with high phenotypic diversity including periventricular nodular heterotopia, skeletal dysplasia, otopalatodigital spectrum disorders, cardiovascular abnormalities, and coagulopathy. FLNA mutations were recently found to be associated with lung disease. In this study, we report a novel FLNA gene associated with significant lung disease and unique angiogenesis. CASE PRESENTATION: Here, we describe a 1-year-old Saudi female child with respiratory distress at birth. The child then had recurrent lower respiratory tract infections, bilateral lung emphysema with basal atelectasis, bronchospasm, pulmonary artery hypertension, and oxygen and mechanical ventilation dependency. Molecular testing showed a new pathogenic variant of one copy of c.3153dupC in exon 21 in the FLNA gene. CONCLUSIONS: Our data support previous reports in the literature that associate FLNA gene mutation and lung disease.

Clinical presentation of air leak in an infant with undiagnosed cystic fibrosis: a case report.

INTRODUCTION: Air leak is a well-recognized complication of advanced cystic fibrosis in older children and adults but is extremely rare in infants. To the best of our knowledge, this is the youngest reported pediatric case of an air leak from a major airway. CASE PRESENTATION: A 4-month-old Yamani baby girl with a family history of cystic fibrosis initially presented with a history of a persistent paroxysmal cough for 3 weeks and vomiting for 1 week. Laboratory evaluation indicated pseudo-Bartter's syndrome. Imaging showed a tracheal tear with pneumomediastinum and subcutaneous emphysema that was treated conservatively. CONCLUSIONS: This case highlights the possibility of air leak in the population of young patients with cystic fibrosis and it shows a successful conservative management of tracheal tear. Physicians should consider cystic fibrosis in infants presenting with air leak.

The management of acute severe asthma in a pediatric intensive care unit.

OBJECTIVE: The hospitalization and mortality rates incurred from acute childhood asthma continue to rise in the past decade. The purpose of this study is to examine the outcome, morbidity and the management of children admitted with acute asthma to our pediatric intensive care unit (PICU) and compare it with those described in the literature. METHODS: Medical records of all children admitted with acute severe asthma to PICU at King Khalid University Hospital, Riyadh, Kingdom of Saudi Arabia over an 8-year period (1994-2001) were reviewed. RESULTS: Fifty-six patients were analyzed. The male to female ratio was 1.3:1 and the mean age was 3.6 +/- 2.8 years. The mean duration of symptoms prior to admission was 2 +/- 1.5 days with 39.3% <24 hours. A positive family history of allergy was present in two third of patients. The average stay in PICU was 2 +/- 0.9 days. Seventy-three percent of patients received prophylaxis bronchodilator therapy before hospital admission including inhaled steroid in 62%. All the patients received nebulized salbutamol and intravenous corticosteroid. Two third of our patients received nebulized ipratropium bromide and 62% intravenous aminophylline. From arterial blood gases analysis, 46.4% had hypercapnia (PaCO2 >45 mmHg). None of our patients required mechanical ventilation. Only 2 patients developed pneumomediastinum with pneumothorax that has resolved spontaneously without intervention. There were no deaths among our 56 patients admitted to PICU. CONCLUSION: We conclude that the mortality and morbidity in children with severe asthma, who require PICU admissions are minimal, provided optimal early use of bronchodilators and intravenous steroids. Using this approach, it could also be possible to avoid mechanical ventilation and shorten the duration of hospital admission.

The diagnostic approach to suspected asthma in a Primary Care Center in Riyadh.

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