Humans ; Pulmonary Alveolar Proteinosis/radiotherapy* ; Small Cell Lung Carcinoma/radiotherapy* ; Lung ; Bronchoalveolar Lavage ; Lung Neoplasms/radiotherapy*

Humans ; Pulmonary Alveolar Proteinosis/pathology*

The male patient was referred to the hospital at 44 days old due to dyspnea after birth and inability to wean off oxygen. His brother died three days after birth due to respiratory failure. The main symptoms observed were respiratory failure, dyspnea, and hypoxemia. A chest CT scan revealed characteristic reduced opacity in both lungs with a "crazy-paving" appearance. The bronchoalveolar lavage fluid (BALF) showed periodic acid-Schiff positive proteinaceous deposits. Genetic testing indicated a compound heterozygous mutation in the ABCA3 gene. The diagnosis for the infant was congenital pulmonary alveolar proteinosis (PAP). Congenital PAP is a significant cause of challenging-to-treat respiratory failure in full-term infants. Therefore, congenital PAP should be considered in infants experiencing persistently difficult-to-treat dyspnea shortly after birth. Early utilization of chest CT scans, BALF pathological examination, and genetic testing may aid in early diagnosis.
Infant ; Infant, Newborn ; Humans ; Male ; Bronchoalveolar Lavage/adverse effects* ; Pulmonary Alveolar Proteinosis/pathology* ; Dyspnea/etiology* ; Respiratory Insufficiency

Bronchoalveolar Lavage ; Humans ; Lung ; Pulmonary Alveolar Proteinosis/therapy*

OBJECTIVES: Pulmonary alveolar proteinosis (PAP) is a rare disease with non-specific and various clinical manifestations, often leading to misdiagnosis. This study aims to raise the awareness of this disease via summarizing the clinical characteristics, diagnosis, and therapy of PAP. METHODS: We retrospectively analyzed clinical data of 25 hospitalized cases of PAP during 2008 and 2019 in the Department of Respiratory and Critical Care Medicine of the Second Xiangya Hospital of Central South University. RESULTS: Cough with unkown reason and dyspnea were common clinical manifastations of PAP. Five patients had a history of occupational inhalational exposure. Sixteen patients had typical image features including ground-glass opacification of alveolar spaces and thickening of the interlobular and intralobular septa, in typical shapes called crazy-paving and geographic pattern. Fourteen patients underwent pulmonary function tests, revealing a reduction in the diffusing capacity for carbon monoxide. The positive rate of transbronchial biopsy was 95%. Five patients received the whole lung lavage and the symptoms and imaging fcauters significantly relieved after five-years follow-up. CONCLUSIONS PAP is characterized by radiographic pattern and pathology. Transbronchial lung biopsy is effective to make diagnosis of PAP. The whole lung lavage remains a efficient therapy.
Biopsy ; Bronchoalveolar Lavage ; Cough ; Dyspnea ; Humans ; Pulmonary Alveolar Proteinosis/therapy* ; Retrospective Studies

A patient with pulmonary alveolar proteinosis underwent whole lung lavage of the right lung. Lavage of the left lung was not immediately possible because of severe hypoxemia. Three days later, after correction of hypoxemia, we re-attempted the left lung lavage. However, the patient had severe hypoxemia (SpO₂< 80%) within a few minutes of performing right one lung ventilation (OLV). On bronchoscopic examination, proper tube location was confirmed. Bronchodilator nebulization and steroid injection were attempted with no effect. While searching for the cause of the hypoxemia, we found that the breath sound from the right lung had become very weak and distant compared with that from initial auscultation. Right pneumothorax was diagnosed on chest X-ray and a chest tube was inserted. After confirming pneumothorax resolution, we re-tried right OLV and were able to proceed with the left lung lavage without signs of aggravating air leak, loss of tidal volume, or severe hypoxemia.
Anoxia ; Auscultation ; Bronchoalveolar Lavage ; Chest Tubes ; Humans ; Lung ; One-Lung Ventilation ; Pneumothorax* ; Pulmonary Alveolar Proteinosis ; Therapeutic Irrigation* ; Thorax ; Tidal Volume

Pulmonary alveolar proteinosis (PAP) is a rare disease in children characterized by intra-alveolar accumulation of surfactant proteins, which severely reduces gaseous exchange. Whole lung lavage (WLL) is the preferred technique for the treatment of severe PAP. Herein, we present a pediatric case of PAP treated with WLL. An 11-year-old boy was admitted with the chief complaint of a dry cough lasting 6 months. He developed symptoms of dyspnea on exertion and had difficulty in climbing stairs. He was ultimately diagnosed with PAP through video-assisted thoracoscopic lung biopsy. As first-line of treatment for PAP, he underwent therapeutic WLL for each of his lungs on separate days. After a brief recovery, his symptoms gradually worsened; therefore, he underwent a second WLL. This is the first pediatric case of PAP relapse despite successful WLL in Korea.
Biopsy ; Bronchoalveolar Lavage* ; Child ; Cough ; Dyspnea ; Humans ; Korea ; Lung* ; Male ; Pulmonary Alveolar Proteinosis* ; Rare Diseases ; Recurrence ; Therapeutic Irrigation ; Video-Assisted Surgery

BACKGROUNDPulmonary alveolar proteinosis (PAP) is a rare lung disease, the most common type of which is autoimmune PAP. The gold standard therapy for PAP is whole lung lavage (WLL). Few studies have reported the optimal technique with which to evaluate the response to WLL. In this study, we aimed to identify parameters with which to assess the need for repeat WLL during a long-term 8-year follow-up.

METHODSWe conducted a retrospective analysis of 120 patients with autoimmune PAP with 80 of whom underwent WLL. Physiologic, serologic, and radiologic features of the patients were analyzed during an 8-year follow-up after the first WLL treatment.

RESULTSOf the 40 patients without any intervention, 39 patients either achieved remission or remained stable and only one died of pulmonary infection. Of the 56 patients who underwent WLL for 1 time, 55 remained free from a second WLL and 1 patient died of cancer. Twenty-four required additional treatments after their first WLL. The baseline PaO 2 (P = 0.000), PA-aO 2 (P = 0.000), shunt fraction rate (P = 0.001), percent of predicted normal diffusing capacity of the lung for carbon monoxide (DLCO%Pred) (P = 0.016), 6-min walk test (P = 0.013), carcinoembryonic antigen (CEA) (P = 0.007), and neuron-specific enolase (NSE) (P = 0.003) showed significant differences among the three groups. The need for a second WLL was significantly associated with PaO 2 (P = 0.000), CEA (P = 0.050) , the 6-minute walk test (P = 0.026), and DLCO%Pred (P = 0.041). The DLCO%Pred on admission with a cut-off value of 42.1% (P = 0.001) may help to distinguish whether patients with PAP require a second WLL.

CONCLUSIONSWLL is the optimal treatment method for PAP and provides remarkable improvements for affected patients. The DLCO%Pred on admission with a cut-off value of 42.1% may distinguish whether patients with PAP require a second WLL.

Adult ; Autoimmune Diseases ; diagnosis ; therapy ; Bronchoalveolar Lavage ; methods ; Female ; Follow-Up Studies ; Humans ; Lung ; pathology ; Male ; Middle Aged ; Pulmonary Alveolar Proteinosis ; diagnosis ; therapy ; Retrospective Studies ; Treatment Outcome

Asbestos ; toxicity ; Humans ; Occupational Exposure ; adverse effects ; Pulmonary Alveolar Proteinosis

Pulmonary alveolar proteinosis (PAP) is a diffuse lung disease characterized by the accumulation of lipoproteins derived from surfactants in the distal air space. The lack of granulocyte macrophage colony-stimulating factor is believed to contribute to macrophage dysfunction and the impaired processing of surfactants. Because the prevalence of PAP in the general population is less than 1 in 200,000, and the typical age at presentation is 35 to 50 years, PAP is a very rare disease in children. To the best of our knowledge, there has been no Korean report on PAP in children. We describe here a patient who was diagnosed with PAP at the aged 15 years.
Adolescent* ; Child ; Female ; Granulocytes ; Humans ; Lipoproteins ; Lung Diseases ; Macrophage Colony-Stimulating Factor ; Macrophages ; Prevalence ; Pulmonary Alveolar Proteinosis* ; Rare Diseases ; Surface-Active Agents