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

A 10-year follow-up of a family with X-linked cutaneous amyloidosis confirmed no more than streaks or spots of brown pigmentation of the skin in females but much more varied and severe manifestations in males. These included neonatal colitis, infantile diarrhea, recurrent respiratory infections, corneal dystrophy, photophobia, unruly hair with a frontal upsweep, dry skin, and mottled, muddy-brown pigmentation seen first on the inner thighs and spreading diffusely to the buttocks, trunk, and arms. Amyloid was found in the pigmented skin of adults of both sexes but not in children. An autopsy of a 50-year-old man, subject to recurrent pneumonia, confirmed the presence of amyloid in the skin, but it was not found in other organs. Changes in the lungs were those of late-stage diffuse pulmonary fibrosis. The pattern of inheritance is X-linked, but the pathogenesis remains obscure.
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PMID:X-linked cutaneous amyloidosis: further clinical and pathological observations. 270 73

A wide variety of types of pulmonary diseases and respiratory symptoms have been associated with gastroesophageal reflux (GER). Asthma, chronic bronchitis, bronchiectasis, and pulmonary fibrosis have all been linked to GER, but causal mechanisms have been difficult to establish. To characterize pulmonary function abnormalities in older children and young adults (age 7-23 years) with GER, lung function was evaluated in 22 patients being treated for reflux. The patients were divided into two groups: nine subjects (Group 1) had no history of pulmonary symptoms. Thirteen subjects (Group 2) had known pulmonary disease; all had diagnosed asthma, and five had a history of recurrent pneumonia. Lung volumes and spirometry were measured. Airway reactivity was assessed by measuring change in flows following isocapneic hyperventilation of subfreezing air. The presence of "small airway" disease was assessed by air-helium flow volume curves and the single breath oxygen test. Lung size, as indicated by measurement of total lung capacity, was normal in all patients. Flow rates, density dependence of maximal expiratory flow, single breath oxygen test, and tests of airway reactivity were abnormal only in Group 2 patients and were normal in the Group 1 patients. That not all children with GER have abnormal pulmonary function suggests that, if there is a causal relationship between GER and lung disease, it is multi-factorial in nature. Children with GER who do have lung disease have evidence of airway obstruction, maldistribution of ventilation, and increased airway reactivity, but do not have restricted lung volumes.
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PMID:Pulmonary function in older children and young adults with gastroesophageal reflux. 376 70

Gastroesophageal reflux is a condition that causes lung complications by gastric content aspiration in both adults and children. The most common complications are asthma, chronic bronchitis or chronic cough, recurrent pneumonia, pulmonary fibrosis and in children apnea as a result of regurgitation of large amount of gastric content suddenly. The reason of recurrent aspiration pneumonia is the aspiration of gastric content or microorganisms in upper gastrointestinal system. Barrett's esophagus characterized by the conversion of the epithelium of esophagus from squamous to columnar is a histological consequence of gastroesophageal reflux. We are presenting a case of Barrett's esophagus and recurrent pneumonia who had respiratory symptoms and difficulty in swallowing but no symptoms of gastroesophageal reflux. As it has been shown in our case it is difficult to cure the respiratory disease caused by nontreated asymptomatic gastroesophageal reflux.
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PMID:[Recurrent aspiration pneumonia and Barrett's esophagus: a case report]. 1510 Sep 5

Mutations in the gene encoding surfactant protein C (SP-C) SFTPC have been found to be associated with chronic interstitial lung disease. A 5-year-old girl oxygen dependent from birth and affected by interstitial lung disease (ILD) is heterozygous for a T to C change in exon 3 resulting in the substitution of threonine for isoleucine at codon 73 (173T), already described in association with ILD. We studied 25 members of her family where the 173T mutation in the SP-C gene is associated to chronic pulmonary diseases. Five members in the mother's family showed respiratory diseases with great diversity in clinical features: her mother was affected by restrictive pneumopathy and emphysema, her grand-mother by asthma and recurrent pneumonia, 2 uncles underwent lung transplantation in the adult age, an aunt was clinically diagnosed having pulmonary fibrosis. All the family members affected by pulmonary diseases and one with no clinical symptoms showed the presence of the mutation 173T. Among the other family members the mutation was found in six subjects for whom no clinical data were available, yet. Our results confirm that heterozygosity for the mutation 173T may cause chronic inflammation of the lung or progressive pulmonary fibrosis. In addition, the possibility to study a large pedigree allowed us to perform a genotype-phenotype correlation indicating a marked phenotypic variability. The diversity in symptoms, age at onset, clinical course, duration of lung disease in the relatives sharing this mutation indicates an incomplete penetrance of the mutation. This might be due to the influence of other genetic factors thus indicating that the phenotype may be complicated by additional components.
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PMID:[Genetic basis in chronic interstitial familial pneumopathy. Familial study of SFTPC]. 1691 Apr 60

Langerhans cell histiocytosis (LCH) is a rare disorder caused by monoclonal Langerhans cells proliferation in bone, skin, lung, lymph nodes, liver, spleen, nervous or hematopoietic system. Pulmonary LCH is a diagnostic trap that is displayed on computed tomography (CT) as an interstitial disorder with honeycomb aspect. In this paper, we present an unusual case of a 26-year-old female that was hospitalized with progressive worsening dyspnea and history of recurrent pneumonia. Lung biopsy showed fibrosis of the interalveolar septa, architectural distortion and large cells with foamy cytoplasm and convoluted nuclei that were marked by CD68, S-100 and the specific antibody CD1a that allowed establishing the diagnosis of pulmonary LCH. The only extrapulmonary manifestations were femoral bone cysts that were radiologically seen 10 years before and were not modified along the years. The therapy consisted on smoking cessation and oral corticosteroids without significant improvement of the clinical symptoms and enlargement of the cystic spaces during six months of follow-up. This case highlights for a rare disorder of the lung that should be taken into account in young patients with progressive pulmonary fibrosis.
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PMID:Pulmonary Langerhans cell histiocytosis in a 26-year-old female: still a diagnostic challenge. 2925 Jun 88