From the Guidelines
chILD likely NEHI refers to a rare lung disorder called Neuroendocrine Cell Hyperplasia of Infancy, which is a subtype of children's interstitial lung disease (chILD). NEHI typically affects infants and young children, causing breathing difficulties, rapid breathing, crackles in the lungs, and poor growth. The condition is characterized by an abnormal increase in neuroendocrine cells in the lungs, which are specialized cells that normally help regulate breathing. Diagnosis usually involves chest imaging (particularly high-resolution CT scans showing a characteristic ground-glass appearance in the lungs) and sometimes lung biopsy. Treatment is primarily supportive, including supplemental oxygen therapy, nutritional support to ensure adequate growth, and prevention of respiratory infections. Unlike some other interstitial lung diseases, NEHI typically does not respond to corticosteroids or immunosuppressive medications, as noted in the guidelines by the American Thoracic Society 1. The prognosis for children with NEHI is generally favorable, with many showing improvement as they grow older, though some may require long-term oxygen support. Regular follow-up with a pediatric pulmonologist is essential to monitor lung function and adjust treatment as needed. Key considerations in management include:
- Referral to a pediatric lung transplantation center for severe cases
- Supportive and preventive care, including treatment of hypoxemia, nutritional failure, and comorbidities
- Education and support for families
- Genetic counseling for families, particularly if there are concerns about genetic mutations such as SFTPC or NKX2.1. Given the lack of controlled trials on therapeutic interventions for chILD syndrome, management is based on indirect evidence, case reports, and clinical experience 1. Therefore, a comprehensive and multidisciplinary approach to care, as recommended by the American Thoracic Society guidelines, is crucial for optimizing outcomes in children with NEHI.
From the Research
Definition of chILD and NEHI
- chILD stands for Childhood Interstitial Lung Disease, a heterogeneous group of rare disorders characterized by abnormal imaging findings, impaired gas exchange, and substantial morbidity and mortality 2.
- NEHI stands for Neuroendocrine Cell Hyperplasia of Infancy, a unique subgroup of chILD that is more prevalent in infants and children younger than 2 years of age 2.
Clinical Features of NEHI
- NEHI typically manifests with chronic tachypnea, retractions, hypoxemia, and failure to thrive 2.
- The diagnosis of NEHI is challenging and requires a systematic approach, as it can masquerade as other common lung diseases of childhood 2.
- NEHI can present with persistent hypoxemia and chronic respiratory symptoms, prompting an extensive diagnostic workup for chILD 2.
Relationship between NEHI and chILD
- NEHI is a rare chILD disorder that presents in the first 2 years of life with common but challenging key clinical features 2.
- chILD can manifest immediately after birth, usually related to mutations in surfactant protein genes or conditions related to the Congenital Acinar Dysplasia-Alveolar Capillary Dysplasia-Congenital Alveolar Dysplasia (CAD-ACD) spectrum 3.
- NEHI and other forms of chILD, such as pulmonary interstitial glycogenosis (PIG), may be considered as overlapping manifestations of pulmonary dysmaturity rather than discrete clinical conditions 4.
Diagnosis and Management of NEHI
- The diagnosis of NEHI can be supported by high-resolution chest CT, which has characteristic findings that can be used as a non-invasive test 5.
- Lung biopsy may be necessary to confirm the diagnosis of NEHI, especially in cases where the clinical presentation is suggestive but not definitive 2, 6.
- Management of NEHI is supportive, and increased awareness among pediatricians and prompt recognition of the clinical presentation may enable timely diagnosis and improve disease management and prognosis 2.