Pulmonary alveolar proteinosis: a case report and world literature review

Huaringa, Armando J.; Francis, Wassem H.

doi:10.1002/rcr2.201

Cited by 10 publications

(9 citation statements)

References 30 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…In the Kingdom of Saudi Arabia, there have been reports of PAP due to surfactant clearance and surfactant dysfunction disorder 9,10. Nevertheless, this is the first report of PAP due to MARS mutation in the Arabian Gulf region…”

Section: Discussionmentioning

confidence: 77%

Methionyl-tRNA synthetase novel mutation causes pulmonary alveolar proteinosis

Alzaid

Al-Shamrani

Harbi

et al. 2019

SMJ

View full text Add to dashboard Cite

The methionyl-tRNA synthetase (MARS) mutation is a very rare cause of congenital pulmonary alveolar proteinosis. We report a 6-month-old boy born with symmetrical intrauterine growth retardation presented with unexplained persistent tachypnea and hypoxemia associated with severe failure to thrive, anemia, hypoalbuminemia and hepatomegaly. Detailed pulmonary investigations including computed tomography chest scan, bronchoscopy and bronchoalveolar lavage revealed pulmonary alveolar proteinosis. Whole exome sequencing identified a homozygous novel variant in the MARS gene, c.854T>C p.(Ile285Thr).

show abstract

Section: Discussionmentioning

confidence: 77%

Methionyl-tRNA synthetase novel mutation causes pulmonary alveolar proteinosis

Alzaid

Al-Shamrani

Harbi

et al. 2019

SMJ

View full text Add to dashboard Cite

show abstract

“…The patient was supported on venovenous ECMO and bilateral whole-lung lavage was completed, with favourable outcomes and an improvement in hypoxaemia. H uaringa et al [ 17 ] described a case of a 52-year-old male with significant occupational exposure to silica, without use of personal protective equipment. He presented with exertional dyspnoea over 1.5 years, with a cough productive of white sputum.…”

Section: Discussionmentioning

confidence: 99%

“…The patient underwent whole-lung lavage (double-lumen endotracheal tube; dependent lung down) with ∼20 L. 1 week later, the second lung was lavaged. Overall, there was significant improvement in symptoms and oxygenation [ 17 ]. S tafford et al.…”

Section: Discussionmentioning

confidence: 99%

Respiratory failure in a 28-year-old male

Wadden

Buckley

Ghosh

et al. 2020

Breathe

View full text Add to dashboard Cite

A 28-year-old male was admitted to the intensive care unit (ICU) for hypoxic respiratory failure requiring intubation and ventilation. He had been dyspnoeic for months leading up to admission with acute worsening 2 weeks prior and reported a 6-kg weight loss over the same time. Occasional dark sputum was reported without haemoptysis, wheeze, chest pain, fever or infectious symptoms. In regard to social history, he smoked 10 cigarettes per day at the time of presentation (<10-pack-year history) and occasionally used marijuana. He worked as a soapstone carver daily and did not use any respiratory protection. In addition, the patient had exposure to a tuberculosis contact ∼1 year prior to presentation.

show abstract

“…GM-CSF eksikliğinde veya yokluğunda alveollerde protein ve fosfolipid yapıda surfaktan birikimi olmaktadır. Bunlar göz önüne alınarak Huaringa ve arkadaşları tarafından PAP yönetiminde ilk olarak GM-CSF'nin denendiği ve total akciğer lavajının sadece GM-CSF'nin terapötik başarısızlığında kullanıldığı belirtilmiştir (18).…”

Section: Discussionunclassified