Neuroendocrine Cell Hyperplasia Of Infancy

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Retrieved

2021-01-23

Source

Orphanet

Trials

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Genes

NKX2-1, ABCA3, TTF1, CEL, SFTPC, SLC27A5, PARP9

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Neuroendocrine cell hyperplasia of infancy (NCHI) is a non-lethal pediatric form of interstitial lung disease (ILD, see this term) characterized by tachypnea without respiratory failure.

Epidemiology

Prevalence of this disease is not known. It appears to affect young infants (mean age 3.8 months found in a large series) but cases have been reported in older children.

Clinical description

Clinical presentation is typically persistent tachypnea.

Etiology

High-resolution computed tomography (HRCT) shows patchy central ground-glass opacifications and air trapping. Lung biopsy shows hyperplasia of neuroendocrine cells within bronchioles documented by bombesin immunohistochemistry.

Management and treatment

Follow-up reveals in some cases the persistence of tachypnea and oxygen requirement for several months.

Prognosis

The prognosis is usually good.