Pulmonary alveolar proteinosis (PAP) is a rare disease that affects young population usually in the age group of 20-40 years, characterized by the deposition of lipoproteinacious material in the alveoli secondary to abnormal processing of surfactant by macrophages. We report a case of a 15-year-old female who had history of cough with sputum for 3 days along with fever. She was seen in another hospital and was treated as a case of pneumonia where she received antibiotic but with no improvement. Computerized tomography (CT) chest showed diffuse interlobular septal thickening in the background of ground glass opacity giving a picture of crazy paving pattern which was consistent with the diagnosis of PAP. The patient was scheduled to undergo, first right-sided whole lung lavage (WLL) under general anesthesia. Endobronchial intubation using left sided 37 Fr double lumen tube. Continuous positive airway pressure (CPAP) as described in our previously published report was connected to the right lumen of the endobronchial tube. CPAP ventilation was used during the suctioning of lavage fluid phase in order to improve oxygenation. WLL was done using 5 L of warm heparinized saline (500 i.u/litre). The same procedure was repeated on the left side using 6 L of heparinized normal saline solution. In conclusion, anesthesia in alveolar proteinosis for patients undergoing WLL is challenging to the anesthesiologist. It requires meticulous preoperative preparation with antibiotics, mucolytics and chest physiotherapy. Also it requires careful intraoperative monitoring and proper oxygenation especially during the suctioning phase of the lavaged fluid. With this second case report of successful anesthetic management using the modified CPAP system we recommend with confidence the application of CPAP ventilation to improve oxygenation during WLL.
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http://dx.doi.org/10.4103/1658-354X.76475 | DOI Listing |
Cell Rep
January 2025
Department of Basic Medical Sciences, School of Medicine, Xiamen University, Xiamen, Fujian, P.R. China; State Key Laboratory of Cellular Stress Biology, Xiamen University, Xiamen, Fujian, P.R. China. Electronic address:
Menin is a scaffold protein encoded by the Men1 gene, and it interacts with a variety of chromatin regulators to activate or repress cellular processes. The potential importance of menin in immune regulation remains unclear. Here, we report that myeloid deletion of Men1 results in the development of spontaneous pulmonary alveolar proteinosis (PAP).
View Article and Find Full Text PDFGen Physiol Biophys
January 2025
Institute of Histology and Embryology, Faculty of Medicine, University of Ostrava, Ostrava, Czech Republic.
Pulmonary alveolar proteinosis (PAP) is a rare disease characterised by excessive accumulation of surfactant components in alveolar macrophages, alveoli, and peripheral airways. The accumulation of surfactant is associated with only a minimal inflammatory response but can lead to the development of pulmonary fibrosis. Three clinical forms of PAP are distinguished - primary, secondary and congenital.
View Article and Find Full Text PDFClin Kidney J
January 2025
Transplantation and Liver Surgery, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.
Background: Lysinuric protein intolerance (LPI) is a metabolic disorder that leads to dysfunctional intestinal absorption and kidney clearance of cationic amino acids. Chronic kidney disease develops in many LPI patients and leads to end-stage kidney disease in at least 10% of patients. Since data on kidney transplants in LPI patients are limited, we analysed the outcomes of LPI patients after transplantation in Finland.
View Article and Find Full Text PDFJ Pediatr Endocrinol Metab
January 2025
Department of Pediatric Metabolism and Ankara University Rare Diseases Application and Research Center, Ankara University Faculty of Medicine, Ankara, Türkiye.
Objectives: Niemann-Pick type C (NPC) is a rare, autosomal recessive, neurodegenerative disorder caused by biallelic pathogenic variants in the or genes, leading to lysosomal lipid accumulation. NPC has an incidence of 1 in 100,000 live births and presents with a wide range of symptoms affecting visceral organs and the central nervous system. We aim to describe the diverse clinical presentations of NPC through case studies.
View Article and Find Full Text PDFRespir Investig
January 2025
Department of Respiratory Medicine, Nagasaki University Graduate School of Biomedical Sciences, 1-7-1 Sakamoto, Nagasaki, 852-8501, Japan.
Sargramostim, a recombinant human granulocyte-macrophage colony-stimulating factor (GM-CSF) inhalation therapy, was recently approved for pharmaceutical use in Japan and shows promise as a treatment for autoimmune pulmonary alveolar proteinosis (APAP). For APAP patients with severe respiratory failure due to advanced lung fibrosis, lung transplantation is also a treatment option; however, APAP may recur after the procedure. Here, we report a case of successful sargramostim inhalation therapy for post-transplant APAP relapse in a patient who underwent living lung transplantation owing to severe fibrosis.
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