What's new in pediatric asthma and rhinitis phenotypes and endotypes?

PURPOSE OF REVIEW: This review explores the evolving landscape of pediatric asthma and rhinitis, focusing on identifying and characterizing different subtypes. RECENT FINDINGS: Childhood asthma and rhinitis are prevalent respiratory conditions frequently occurring together. To address the need for a precise definition of these diseases, an unbiased and comprehensive phenotyping approach has been undertaken with hypothesis-free analysis of extensive datasets to uncover new relationships among clinical, environmental, and biological characteristics. On the other hand, the concept of endotype is elaborate and multifaceted, representing distinct pathophysiological mechanisms underlying the clinical presentation and requires the identification of reliable biomarkers. The recognition of multiple inflammatory endotypes underscores the need for in-depth characterization, which could revolutionize the treatment landscape. SUMMARY: Comprehending phenotypes and endotypes is crucial for customizing effective and personalized management approaches for children with asthma and rhinitis. More precise and efficient care can be administered through recognition and detailed characterization, ultimately enhancing patients' quality of life.

Challenges in uncontrolled asthma in pediatrics: important considerations for the clinician.

INTRODUCTION: Despite symptoms control being the primary focus of asthma management according to guidelines, uncontrolled asthma is still an issue worldwide, leading to huge costs and asthma deaths at all ages. In childhood, poor asthma control can be even more harmful, as it can irreversibly compromise the children's lung function and the whole family's well-being. AREAS COVERED: Given the problem extent, this review aims to discuss the leading modifiable causes of uncontrolled asthma in Pediatrics, giving some practical insights regarding the critical role of families and the main tools for monitoring control and drug adherence, even at a distance. The most recent GINA documents were used as the primary reference, along with the latest evidence regarding the management of asthma control and the impact of the COVID-19 pandemic on asthma. EXPERT OPINION: In managing pediatric asthma, a multidisciplinary, multi-determinant, personalized approach is needed, actively involving families, schools, and other specialists. In addition to current strategies for implementing control, electronic health strategies, new validated asthma control tools, and the identification of novel inflammatory biomarkers could lead to increasingly tailored therapies with greater effectiveness in reaching asthma control.

Congenital Adrenal Hyperplasia (CAH) and Gitelman Syndrome (GS): Overlapping Symptoms in an Uncommon Association.

BACKGROUND: Classical salt-wasting (SW) congenital adrenal hyperplasia (CAH) and Gitelman syndrome (GS) are two genetic conditions in which dyselectrolytemia may occur. No association between the two conditions has been previously described. Case Presentation. We present the case of a boy with a neonatal diagnosis of SW-CAH who showed low potassium blood levels from the age of 15 years. This electrolytic alteration was, at first, attributed to an excessive action of mineralocorticoid drugs. Due to persistence of hypokalemia, SLC12A3 whole genome sequencing was performed, showing a heterozygous C to T base pair substitution at position 965 in gene SLC12A3. This mutation is related to Gitelman syndrome with autosomal recessive transmission. CONCLUSIONS: SW-CAH and GS determine opposite values of potassium in the absence of specific therapy, with a natural tendency to compensate each other. The symptom overlap makes diagnosis difficult. Organic causes of hypokalemia in patients undergoing life-saving therapy should not be excluded.

Age and Upper Airway Obstruction: A Challenge to the Clinical Approach in Pediatric Patients.

Upper airway abnormalities increase the risk of pediatric morbidity in infants. A multidisciplinary approach to obstructive sleep apnea syndrome (OSAS) poses challenges to clinical practice. The incidence and causes of OSA are poorly studied in children under 2 years of age. To fill this gap, we performed this retrospective observational study to determine the causes of obstructive sleep apnea (OSA) in children admitted to our hospital between January 2016 and February 2018, after a brief unexplained event (BRUE) or for OSA. We reviewed the medical charts of 82 patients (39 males; BRUE n = 48; OSAS n = 34) and divided them into two age groups: < 1 year old (1-12 months; n = 59) and >1 year old (>12-24 months; n = 23). Assessment included nap polysomnography, multichannel intraluminal impedance-pH, and nasopharyngoscopy. Sleep disordered breathing was comparable between the two groups. Omega-shaped epiglottis, laryngomalacia, and nasal septum deviation were more frequent in the younger group, and nasal congestion in older group. Tonsillar and adenoidal hypertrophy was more frequent in the older group, while laryngomalacia and gastroesophageal reflux was more frequent in the younger group. Tonsil and adenoid size were associated with grade of apnea-hypopnea index severity in the older group, and laryngomalacia and gastroesophageal reflux in the younger group. The main causes of respiratory sleep disorders differ in children before or after age 1 year. Our findings have potential clinical utility for assessing the pathophysiology of obstructive sleep disordered breathing in patients less than 2 years old.