Population and Disease-Based Prevalence of the Common Mutations Associated With Surfactant Deficiency

Garmany, Tami H; Wambach, Jennifer A.; Heins, Hillary B.; Watkins-Torry, Julie; Wegner, Daniel; Bennet, Kate; An, Ping; Land, Garland; Saugstad, Ola Didrik; Henderson, Howard; Nogee, Lawrence M.; Cole, F. Sessions; Hamvas, Aaron

doi:10.1203/pdr.0b013e31816fdbeb

Cited by 96 publications

(73 citation statements)

References 33 publications

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“…Approximately 150 different variants have been reported in the literature, most leading to severe neonatal lung disease . While most mutations in ABCA3 are unique, some have been identified among multiple symptomatic individuals including E292V (Bush, 2004;Garmany et al, 2008). The carrier rate of ABCA3 mutation in European-decent individuals was reported to be 3.6% and it is estimated that ABCA3 deficiency occurs approximately in 1:3100 among this population (Wambach et al, 2012).…”

Section: Discussionmentioning

confidence: 99%

Novel ABCA3 mutations as a cause of respiratory distress in a term newborn

Jm¹,

Pinheiro²,

Costa³

et al. 2014

Gene

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Section: Discussionmentioning

confidence: 99%

Novel ABCA3 mutations as a cause of respiratory distress in a term newborn

Jm¹,

Pinheiro²,

Costa³

et al. 2014

Gene

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“…Rare mutations in the surfactant dysfunction genes and in particular ABCA3 have been shown to lead to respiratory distress syndrome in the mature neonate and to ILD in children and adults of European descent in the United States [24]. These variations were either present in a homozygous or compound heterozygous arrangement, as expected for an autosomal recessive condition.…”

Section: Dpld Group A4: Ild Related To Alveolar Surfactant Regionmentioning

confidence: 96%

Chronic interstitial lung disease in children

Griese

2018

Eur Respir Rev

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Children's interstitial lung diseases (chILD) are increasingly recognised and contain many lung developmental and genetic disorders not yet identified in adult pneumology. Worldwide, several registers have been established. The Australasian Registry Network for Orphan Lung Disease (ARNOLD) has identified problems in estimating rare disease prevalence; focusing on chILD in immunocompetent patients, a period prevalence of 1.5 cases per million children and a mortality rate of 7% were determined. The chILD-EU register highlighted the workload to be covered per patient included and provided protocols for diagnosis and initial treatment, similar to the United States chILD network. Whereas case reports may be useful for young physicians to practise writing articles, cohorts of patients can catapult progress, as demonstrated by recent studies on persistent tachypnoea of infancy, hypersensitivity pneumonitis in children and interstitial lung disease related to interferonopathies from mutations in transmembrane protein 173. Translational research has linked heterozygous mutations in the ABCA3 transporter to an increased risk of interstitial lung diseases, not only in neonates, but also in older children and adults. For surfactant dysfunction disorders in infancy and early childhood, lung transplantation was reported to be as successful as in adult patients. Mutual potentiation of paediatric and adult pneumologists is mandatory in this rapidly extending field for successful future development.

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“…The presence of abnormal lamellar bodies in these infants suggested the role of ABCA3 as a transporter protein. Several mutations have been reported for ABCA3, with a substitution of valine for glutamic acid at codon 292 being identified as the most common [65]. Severe neonatal hypoxic respiratory failure is the usual phenotype of ABCA3 deficiency [64], although a more chronic course with ILD is also known [61].…”

Section: Genetic Defects Of Surfactant Proteinsmentioning

confidence: 99%

Pulmonary surfactant in newborn infants and children

Chakraborty

Kotecha

2013

Breathe

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N To understand the composition, secretory pathways and functions of pulmonary surfactant.N To review the clinical evidence regarding the use of surfactants in newborn infants and children.N To develop an understanding of rarer disorders of surfactant metabolism. N To understand recent developments and future prospects in the field of surfactants. SummaryPulmonary surfactant is a complex mixture of specific lipids, proteins and carbohydrates, which is produced in the lungs by type II alveolar epithelial cells. The mixture is surface active and acts to decrease surface tension at the air-liquid interface of the alveoli. The presence of such molecules with surface activity had been suspected since the early 1900s and was finally confirmed in the mid-1900s. Since then, the chemical, physical and biological properties of the surfactant mixture have been revealed due to the work of several groups of investigators. The surfactant mixture is an essential group of molecules to support air breathing. Thus, preterm infants, who are born with immature lungs and are surfactant deficient, develop respiratory distress syndrome after being born. Replacement of natural surfactant therapy with purified surfactant from lungs of nonhuman species is one of the most significant advances in neonatology and has resulted in improved limits of viability of preterm infants. Although preterm infants are the primary population, exogenous surfactant treatment may also have a role to play in other respiratory diseases of term-born infants and older children. HERMES syllabus link: module E.1.16

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Population and Disease-Based Prevalence of the Common Mutations Associated With Surfactant Deficiency

Cited by 96 publications

References 33 publications

Novel ABCA3 mutations as a cause of respiratory distress in a term newborn

Novel ABCA3 mutations as a cause of respiratory distress in a term newborn

Chronic interstitial lung disease in children

Pulmonary surfactant in newborn infants and children

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