Neuroendocrine cell hyperplasia of infancy: a prospective follow-up of nine children

Lukkarinen, Heikki; Pelkonen, Antti; Lohi, Jouko; Malmström, Kristiina; Malmberg, L. Pekka; Kajosaari, Merja; Lindahl, Harri; Föhr, Anna; Ruuskanen, Olli; Mäkelä, Mika J.

doi:10.1136/archdischild-2012-302115

Cited by 59 publications

(87 citation statements)

References 15 publications

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“…Importantly, outcomes were rather favorable, improving over time, and no deaths were observed, confirming a previous small set of long-term data (4).…”

Section: Discussionsupporting

confidence: 85%

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Persistent Tachypnea of Infancy. Usual and Aberrant

Rauch¹,

Wetzke

Reu

et al. 2016

Am J Respir Crit Care Med

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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.

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“…Importantly, outcomes were rather favorable, improving over time, and no deaths were observed, confirming a previous small set of long-term data (4).…”

Section: Discussionsupporting

confidence: 85%

“…NEHI presents in infants similarly to an interstitial lung disease, with symptoms of tachypnea, hypoxemia, crackles, retractions, and failure to thrive (3)(4)(5)(6)(7)(8)(9). Initially, the condition was labeled "persistent tachypnea of infancy" (PTI) (5) or "chronic idiopathic bronchiolitis of infancy" (9).…”

mentioning

confidence: 99%

Persistent Tachypnea of Infancy. Usual and Aberrant

Rauch¹,

Wetzke

Reu

et al. 2016

Am J Respir Crit Care Med

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“…Reported familial cases suggest that NEHI may have a genetic basis, 47 although, to date, no mutation has been consistently identified. 48 Long-term outcome is generally favorable with most patients gradually improving over time, although persistent airway obstruction mimicking severe asthma 49 and relapse with respiratory infection also have been reported. 19 PIG PIG is a rare disorder that manifests within the first few weeks of life with respiratory distress and diffuse interstitial infiltrates.…”

Section: Nehimentioning

confidence: 99%

Interstitial Lung Disease in Children Younger Than 2 Years

Spagnolo

Bush

2016

Pediatrics

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Childhood interstitial lung disease (chILD) represents a highly heterogeneous group of rare disorders associated with substantial morbidity and mortality. Although our understanding of chILD remains limited, important advances have recently been made, the most important being probably the appreciation that disorders that present in early life are distinct from those occurring in older children and adults, albeit with some overlap. chILD manifests with diffuse pulmonary infiltrates and nonspecific respiratory signs and symptoms, making exclusion of common conditions presenting in a similar fashion an essential preliminary step. Subsequently, a systematic approach to diagnosis includes a careful history and physical examination, computed tomography of the chest, and some or all of bronchoscopy with bronchoalveolar lavage, genetic testing, and if diagnostic uncertainty persists, lung biopsy. This review focuses on chILD presenting in infants younger than 2 years of age and discusses recent advances in the classification, diagnostic approach, and management of chILD in this age range. We describe novel genetic entities, along with initiatives that aim at collecting clinical data and biologic samples from carefully characterized patients in a prospective and standardized fashion. Early referral to expert centers and timely diagnosis may have important implications for patient management and prognosis, but effective therapies are often lacking. Following massive efforts, international collaborations among the key stakeholders are finally starting to be in place. These have allowed the setting up and conducting of the first randomized controlled trial of therapeutic interventions in patients with chILD.

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“…9,19,[26][27][28][29][30][31][32][33][34][35][36][37] A primary advance in this area is the growing recognition that NEHI can be diagnosed by using a chest CT scan without the need for lung biopsy. Brody et al 9 first fully described the radiologic features of NEHI in 2010.…”

Section: Neuroendocrine Cell Hyperplasia Of Infancymentioning

confidence: 99%