An infant with pulmonary interstitial glycogenosis: Clinical improvement is associated with improvement in the pulmonary diffusion capacity (original) (raw)
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Pediatric Pulmonology, 2019
Introduction: Pulmonary interstitial glycogenosis (PIG) is a rare infant interstitial lung disease characterized by an increase in the number of interstitial mesenchymal cells, presenting as enhanced cytoplasmic glycogen, and is considered to represent the expression of an underlying lung development disorder. Methods: This study describes the clinical, radiological, and functional characteristics and long-term outcomes (median 12 years) of nine infants diagnosed with isolated PIG associated with alveolar simplification in the absence of other diseases. Results: All patients presented with tachypnea. Additionally, seven patients had breathing difficulties and hypoxemia. Abnormalities in chest-computerized tomography (CT) with a pattern of ground-glass opacity, septal thickening, and air trapping were observed in all individuals, with images suggesting abnormal alveolar growth (parenchymal bands and architectural distortion). All lung biopsies showed alveolar simplification associated with an increased number of interstitial cells, which
Pediatric Cardiology, 2012
Primary or isolated pulmonary interstitial glycogenosis (PIG) is a rare disease presenting as tachypnea and hypoxemia during the perinatal period. A diffuse interstitial infiltrate with focal hyperinflation is visible on chest imaging. The biopsy findings include diffuse expansion of the interstitium by spindle-shaped cells with pale cytoplasm that, on electron microscopy (EM), are poorly differentiated mesenchymal cells containing abundant monoparticulate glycogen. This glycogenosis appears to be a transient abnormality, usually with a favorable prognosis. Recently, cases of PIG, some associated with other pulmonary or systemic abnormalities, have been described. The clinical significance and potential role of PIG changes remain unknown. We report 28 cases of PIG associated with a spectrum of pediatric pulmonary and cardiovascular disorders, including arterial hypertensive changes with and without abnormal alveolar development (n = 9), congenital heart disease (CHD; n = 4), hyperplasia of pulmonary neuroendocrine cells resembling neuroendocrine hyperplasia of infancy (NEHI, n = 5), congenital pulmonary airway malformation (n = 5), congenital lobar emphysema (n = 4), and Noonan syndrome (n = 1). In all cases, PIG was confirmed by positive periodic acid-Schiff (PAS) staining, immunopositivity for vimentin, and EM. Although some patients improved with age, seven died of respiratory failure or complications of CHD, suggesting that PIG may be clinically significant when associated with other severe disorders. The association of PIG with a spectrum of mostly congenital lung disorders supports its origin as a developmental abnormality of interstitial fibroblast differentiation rather than a nonspecific reactive process.
Pulmonary interstitial glycogenosis cells express mesenchymal stem cell markers
European Respiratory Journal, 2020
Pulmonary interstitial glycogenosis (PIG) was first defined as a distinct neonatal interstitial lung disease of unknown aetiology that presents in neonates and young infants with mild to severe hypoxic lung disease [1]. Characterised clinically by unexplained respiratory distress and cyanosis with an onset during early infancy, PIG was primarily defined by the presence of distinct and unusual-appearing cells contained within the interstitium that were characterised by a widened interstitium containing variable numbers of immature-appearing, polygonal-to-spindle shaped cells, which may contribute to impaired gas exchange. The most unique feature of PIG cells is the widespread presence of non-membrane bound, periodic acid-Schiff stain-positive, mono-particulate glycogen in the cytoplasm, for which the disease was named ("glycogenosis") [1]. By ultrastructure, PIG cells are considered primitive due to the presence of only sparse organelles and a lack of specific features that indicate differentiation towards any well-characterised pulmonary cell line, including lymphocytes or macrophages [1]. Observations from this landmark paper led to subsequent studies that further characterised PIG, using the presence of these novel and atypical appearing cells as the pathognomonic diagnostic hallmark [2-5]. Although initially considered a distinct disease, recent studies have identified histologic evidence of PIG in association with diverse cardiopulmonary disorders, including childhood interstitial lung disorders, congenital heart disease, bronchopulmonary dysplasia, congenital airway malformations, pulmonary hypertension, neuroendocrine cell hyperplasia of infancy and congenital lobar emphysema [2-5]. Long-term outcomes for infants with histologic findings of PIG are highly variable and may be linked with the severity of the underlying disease process associated with PIG histology; however, fatal cases have been reported even in the absence of other known primary diagnoses [2-5]. Clinical, imaging, bronchoscopic and genetic findings are not specific for PIG and diagnosis still requires lung biopsy.
Journal of Child Science
Pulmonary interstitial glycogenosis (PIG) is a disease of unknown etiology. It is part of the interstitial lung diseases, corresponding to the compartment of the fetal pulmonary interstitium. It typically presents within the first week of life as refractory respiratory distress with tachypnea and persistent hypoxemia, and it is not associated with glycogen deposition in other organs. Usually, there is a clinical improvement and good prognosis after steroid therapy unless there are associated conditions such as congenital heart disease, pulmonary hypertension, or genetic disorders. We report a case diagnosed by lung biopsy at 4 months of age in a male preterm born, small for gestational age infant, who developed refractory hypoxemia and pulmonary hypertension with fatal outcome. There was no response to steroids and hydroxychloroquine. He was not candidate for extracorporeal membrane oxygenation. PIG should be considered in the differential diagnosis of persistent respiratory distres...
The role of bronchoalveolar lavage in interstitial lung disease
Clinics in Chest Medicine, 2004
Considerable progress has been made during the past 10 years in understanding the clinicopathologic similarities and differences among the various acute and chronic forms of diffuse parenchymal lung disease, collectively referred to as interstitial lung diseases (ILDs). This is true particularly for the different forms of idiopathic interstitial pneumonia (IIP), which are now recognized as distinct clinicopathologic entities that vary in their clinical characteristics and their prognosis [1-3]. Lung parenchymal evaluation by high-resolution CT scanning (HRCT) of the chest has evolved to the point that it may provide images that are virtually diagnostic of certain forms of ILD [4-6], but other testing, including bronchoalveolar lavage (BAL) and lung biopsy, may be required to secure an accurate diagnosis. The differential diagnosis of these disorders rests on the clinician's interpretation of the patient's clinical presentation combined with physical examination findings, pulmonary function testing, radiographic imaging, and, if required, sampling of lung tissue. This discussion examines the usefulness of BAL in the diagnosis of specific forms of ILD. Bronchial irrigation with saline solution was reported first by Stitt in 1927 [7], who introduced the term, ''bronchial lavage,'' in 1932 [8]. Lavage of more distal areas of the lung was reported as a therapy for septic lung disease and pulmonary alveolar proteinosis 4 decades later [9,10], and it also was used to study lower respiratory tract immunity in various animal models in the 1960s [11-14].
Journal of Surgical Research, 2006
Materials and methods. Experimental study, using mixed-breed pigs. Animals were assigned to one of the following groups: Control Group (CG) (n ؍ 5), applying mechanical ventilation with tidal volume (V t ) of 10 ml/kg, respiratory rate (RR) of 18 bpm, and FiO 2 of 1 for 240 min; High V t for 30 min (HVt-30) Group (n ؍ 5), applying ventilation with V t of 50 ml/kg and RR of 8 bpm and FiO 2 of 1 for 30 min, followed by ventilation as in the CG for a further 210 min; and HVt-240 Group (n ؍ 5), applying ventilation with V t of 50 ml/kg, RR of 8 bpm, and FiO 2 of 1 for 240 min. Hemodynamic parameters, airway pressures, arterial blood gases, extravascular lung water (EVLW), and cytokines (IL-2, IL-4, IL-6, IL-10, TNF-␣, and ITF-␥) in plasma and bronchoalveolar lavage (BAL) were determined. Lungs were fixed with 10% formalin for histological analysis. Results are expressed as mean ؎ standard deviation. The ANOVA test was used to compare measurements among the three groups.
Comparison of four methods to calibrate respiratory inductive plethysmograph in premature infants
Critical Care, 2006
Objective To examine the effects of short-term cyclic stretch on apoptosis in alveolar type II cells (A549). To study in vitro the direct influence of alveolar type II cells on mechanical stretch. Methods A549 were treated with different doses of lipopolysaccharide (LPS), 0 ng/ml, 1 ng/ml, 10 ng/ml, 100 ng/ml, 1000 ng/ml, and then A549 were lengthened 5%, 15%, 30% using a FLEXCELL tension unit 4000, a vacuum-driven device that applies strain to cells, which were cultured in six-well plates coated with collagen-I, and 12 cycles/min for 4 hours. Apoptosis was measured using the flow cytometry method that measures annexin V and propidium iodide (PI) staining. The morphological changes of apoptotic cells were observed by transmission electron microscope. Results Apoptosis could be induced in alveolar type II cells (A549) by mechanical stretch. The percentage of annexin V + PI cells increased after being treated with cyclic stretch for 4 hours by 5%, 15%, 30% in all groups. The morphological features of apoptotic cells demonstrated by transmission electron microscope were as follows: shrinkage of the cell, chromatin condensation and aggregation under the nuclear membrane as a crescent or lump, membrane-encapsulated nuclear fragment or cell organ formed by invagination of the cell membrane, and apoptotic body formation followed by vacuolization. Conclusion Apoptosis induced by mechanical stretch and LPS is dose dependent. Mechanical stretch aggravates apoptosis especially in cells treated with LPS. Annexin V and PI double staining is a specific, sensitive, and quantitative method for analyzing apoptotic cells. It is also helpful to clarify the protective mechanism of low-volume ventilation in ARDS. PaO 2 /FiO 2 430 [421; 440] # 380 [349; 397] 165 [68; 289] # C (ml/cmH 2 O) 28 [24; 32]* 18 [16; 21]* 12 [8; 17]* R i (cmH 2 O/l/s) 4.1 [3.9; 4.5] 4.5 [4.3; 5.1] 5.1 [3.7; 7.9] # P < 0.05 control vs 24-hour peritonitis, *P < 0.05 control vs 12-hour and 24-hour peritonitis.