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Asthma in Children With Melanocortin 4 Receptor (MC4R) Gene Mutation Variant: A Case Series
Haitham Al-Dhmour1, Mahmoud Abu Zahra1, Deepa Rastogi1
1Division of Pediatric Respiratory and Sleep Medicine, The Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, New York, USA.
Background:
Melanocortin 4 receptor (MC4R) gene mutations are the most common cause of monogenic non-syndromic childhood obesity, but their relationship with asthma remains unclear.
Methods:
We report four cases of children with the same MC4R gene variant who presented with asthma in the setting of obesity.
Results:
The asthma phenotype, severity, and presentation were variable between these patients. Some but not all also had comorbid obstructive sleep apnea (OSA) and evidence of metabolic abnormalities, including insulin resistance and hypertension.
Conclusions:
These findings suggest that the MC4R mutation and its associated morbid obesity are associated with asthma. Future studies are warranted to define the underlying pathobiology of asthma among children with MC4R mutations.
Insights
Melanocortin 4 receptor (MC4R) gene mutations, a common cause of childhood obesity, may be linked to asthma. This study observed asthma in children with MC4R variants and obesity, suggesting a potential association.
Area of Science:
- Genetics
- Pediatrics
- Pulmonology
Background:
- Melanocortin 4 receptor (MC4R) gene mutations are the leading genetic cause of non-syndromic obesity in children.
- The connection between MC4R mutations and asthma has not been previously established.
Purpose of the Study:
- To investigate the potential association between MC4R gene mutations and asthma in pediatric patients.
- To describe the clinical presentation of asthma in children with MC4R-related obesity.
Main Methods:
- Case series reporting on four children with a shared MC4R gene variant.
- Clinical data including asthma characteristics, obesity, and comorbidities were reviewed.
Main Results:
- All four children with the MC4R variant presented with asthma alongside obesity.
- Asthma presentation and severity varied among the patients.
- Comorbidities such as obstructive sleep apnea (OSA), insulin resistance, and hypertension were present in some patients.
Conclusions:
- MC4R mutations and associated severe obesity appear to be linked with asthma in children.
- Further research is needed to elucidate the biological mechanisms connecting MC4R mutations, obesity, and asthma.
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