Persistent Tachypnea of Infancy. Usual and Aberrant

Abstract

RATIONALE: Persistent tachypnea of infancy (PTI) is a specific clinical entity of undefined etiology comprising the two diseases neuroendocrine cell hyperplasia of infancy (NEHI) and pulmonary interstitial glycogenosis. The outcome of typical NEHI is favorable. The outcome may be different for patients without a typical NEHI presentation, and thus a lung biopsy to differentiate the diseases is indicated. OBJECTIVES: To determine whether infants with the characteristic clinical presentation and computed tomographic (CT) imaging of NEHI (referred to as "usual PTI") have long-term outcome and biopsy findings similar to those of infants with an aberrant presentation and/or with additional localized minor CT findings (referred to as "aberrant PTI"). METHODS: In a retrospective cohort study, 89 infants with PTI were diagnosed on the basis of clinical symptoms and, if available, CT scans and lung biopsies. Long-term outcome in childhood was measured on the basis of current status. MEASUREMENTS AND MAIN RESULTS: Infants with usual PTI had the same respiratory and overall outcomes during follow-up of up to 12 years (mean, 3.8 yr) as infants who had some additional localized minor findings (aberrant PTI) visualized on CT images. Both usual and aberrant PTI had a relatively favorable prognosis, with 50% of the subjects fully recovered by age 2.6 years. None of the infants died during the study period. This was independent of the presence or absence of histological examination. CONCLUSIONS: PTI can be diagnosed on the basis of typical history taking, clinical findings, and a high-quality CT scan. Further diagnostic measures, including lung biopsies, may be limited to rare, complicated cases, reducing the need for an invasive and potentially harmful procedure. AbstractRationale: Persistent tachypnea of infancy (PTI) is a specific clinical entity of undefined etiology comprising the two diseases neuroendocrine cell hyperplasia of infancy (NEHI) and pulmonary interstitial glycogenosis. The outcome of typical NEHI is favorable. The outcome may be different for patients without a typical NEHI presentation, and thus a lung biopsy to differentiate the diseases is indicated.

International management platform for children’s interstitial lung disease (chILD-EU)

“…Cases of chronic tachypnoea of infancy (usual or aberrant) had no biopsy and were defined as described previously;16 cases were only labelled ‘Neuroendocrine cell hyperplasia of infancy’ if there was proof by biopsy and concordant clinical symptoms. Details on the classification system and definitions used are given in the supplement of Griese et al 12…”

Childhood interstitial lung diseases in immunocompetent children in Australia and New Zealand: a decade’s experience

“…The European guidelines do not make recommendations on the type of surgical approach [20]. The benefit of surgical biopsy remains controversial, particularly in well patients and in those with persistent tachypnoea of infancy [25]. However histological diagnosis may guide treatment decisions, especially withdrawal of care [24].…”

Chronic interstitial lung disease in children

“…RAUCH et al [20] collected a cohort of 89 such infants, after the exclusion of other conditions, including surfactant dysfunction disorders, immune deficiencies, cystic fibrosis, primary ciliary dyskinesia and cardiac disease. This condition is called persistent tachypnoea of infancy (PTI).…”

“…They found that the age of onset of symptoms (3.5 (range 0-20) months), the initial symptoms (tachypnoea 100%, crackles 86%, retractions 82%, failure to thrive 66% and hypoxaemia 88%) were not different between usual and aberrant PTI. After an average follow-up until 4.2 (range 0.7-10.5) years, 50% of the infants were healthy, 46% were still sick, but had improved, and only 4% were in the same clinical condition [20]. It is of great importance to know and recognise this condition, in order to avoid overtreatment or to miss treatments necessary for similar conditions.…”