Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0034069 (pulmonary fibrosis)
 7,050 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Pulmonary alveolar microlithiasis is a rare diffuse lung disease characterised by deposition of calcium phosphate within the alveolar airspaces. The disease is usually discovered from birth up to 40 yrs of age and is often diagnosed incidentally during radiography of the chest for other reasons. Many patients are asymptomatic and the majority of patients either have normal or restrictive pulmonary function. The clinical course of the disease varies. While it remains static in some patients, it progresses into pulmonary fibrosis, respiratory failure and cor pulmonale in others. With the exception of lung transplantation, there is no known effective treatment for the disease. Although the aetiology remains unclear, mutations of the solute carrier family 34 (sodium phosphate), member 2 gene (the SLC34A2 gene), which encodes a sodium/phosphate co-transporter, are considered to be the cause of the disease. We present two cases of pulmonary alveolar microlithiasis with different mutations in the SLC34A2 gene that have not been previously described, and a review of the literature.
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PMID:Pulmonary alveolar microlithiasis: two case reports and review of the literature. 2294 90

Pulmonary alveolar microlithiasis (PAM) is a rare chronic lung disease characterized by deposition of intra alveolar calcium and phosphate in bilateral lung parenchyma with predominance in lower and mid zones. Etiology and pathogenesis is not fully understood. However, mutation in SLC34A2 gene that encodes a sodium phosphate co-transporter in alveolar type-II cells resulting in formation and accumulation of microliths rich in calcium phosphate due to impaired clearance is considered the cause of disease. Patients with PAM are asymptomatic till development of hypoxemia and cor pulmonale. It remains static, while in some it progresses to pulmonary fibrosis, respiratory failure and cor pulmonale. We report a case of 44 year old male patient presenting with progressive shortness of breath on exertion for one year in duration with dry cough, more since last six months. Chest radiograph showed dense micronodular opacities giving classical sandstorm appearance. High resolution computed tomography (HRCT) showed microcalcification, subpleural cystic changes and calcified pleura. Lung biopsy showed calcospherites within alveolar spaces.
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PMID:Pulmonary Alveolar Microlithiasis - Clinico-Radiological dissociation - A case report with Radiological review. 2720 Jan 51

BACKGROUND Pulmonary alveolar microlithiasis is an autosomal recessive disease in which a mutation in the SLC34A2 gene that codes for a sodium phosphate type IIb transporter protein (expressed in human epithelial tissues and functions in the clearance of phosphate ions) leads to the formation of extensive pulmonary intra-alveolar microliths. The subsequent characteristic clinical features of dyspnea and hypoxia are a manifestation of these microliths. There have been fewer than 1000 cases of pulmonary alveolar microlithiasis reported worldwide, and there have been 19 reported lung-transplanted patients. CASE REPORT A 49-year-old Saudi male patient presented with longstanding history of easy fatigability and tiredness on exertion since he was 16 years old. Throughout his follow-up in different hospitals (1986-1989), tuberculosis and pulmonary fibrosis were suspected. The patient was lost to follow-up between 1989 and 2001. In 2002, he presented to the emergency room with coughing, shortness of breath on exertion, abdominal swelling, and pedal edema. An investigation with chest x-rays, CT scan, electrocardiogram, and an echocardiogram was conducted. After referral to a tertiary care center, the patient was diagnosed with pulmonary alveolar microlithiasis. He subsequently developed pulmonary hypertension and polycythemia and therefore received a bilateral lung transplant in 2016. Following the lung transplant, he developed a mild reperfusion injury and tonic-clonic seizures, requiring ICU admission. After a successful extubatation with stable vitals and good recovery, he was discharged home in stable condition with planned follow-up. CONCLUSIONS We report a case of pulmonary alveolar microlithiasis successfully treated with a bilateral lung transplant. Although pulmonary alveolar microlithiasis is a rare entity, healthcare providers should consider it in the differential diagnoses of parenchymal lung diseases and differentiate it from tuberculosis and pulmonary fibrosis.
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PMID:Pulmonary Hypertension and Polycythemia Secondary to Pulmonary Alveolar Microlithiasis Treated with Sequential Bilateral Lung Transplant: A Case Study and Literature Review. 3135 64

Pulmonary alveolar microlithiasis (PAM) is a rare disease caused by a mutation in the SLC34A2 gene encoding the type IIb sodium phosphate cotransporter in alveolar type II cells. This results in the formation and accumulation of calcium phosphates crystals in the alveoli. Early in the disease, most patients are asymptomatic or might experience mild symptoms. However, in some patients, PAM can progress resulting in pulmonary fibrosis, cor pulmonale, and respiratory failure. We report the case of a 33-year-old Omani male who was referred to our institute with a history of fever and shortness of breath. A chest radiograph revealed bilateral dense consolidation. Chest computed tomography showed bilateral dense interlobular thickening and extensive consolidations with a lower lung predominance. Our findings were highly suggestive of PAM. The diagnosis was confirmed by bronchoalveolar lavage.
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PMID:Pulmonary Alveolar Microlithiasis: A Case Report. 3232 94