Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019214 (hepatosplenomegaly)
 4,408 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Twenty-one patients with the diagnosis of mucopolysaccharidosis or mucolipidosis and a history of respiratory complaints or thorough respiratory evaluation were studied retrospectively. Anatomic factors affecting respiratory status included: (i) upper airway narrowing by hypertrophied tongue, tonsils, adenoids, and mucous membranes; (ii) lower airway narrowing by glycosaminoglycan deposition within the tracheobronchial mucosa; (iii) decreased thoracic dimensions due to scoliosis and thoracic hyperkyphosis; and (iv) decreased abdominal dimensions due to lumbar hyperlordosis, gibbus formation and hepatosplenomegaly. Cardiac and neurologic involvement, while present, did not play primary roles in the development of respiratory disease. The functional consequences of these findings included increased risk of developing: (i) respiratory tract infections; (ii) airway compromise during or after anesthesia or sedation; (iii) dyspnea on exertion; (iv) obstructive lung disease; (v) obstructive sleep apnea; and (vi) cor pulmonale. A management approach is presented which can reduce the morbidity and mortality experienced by these patients.
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PMID:Respiratory complications of mucopolysaccharide storage disorders. 313 89

Tropical pulmonary eosinophilia (TPE) is considered to be a variant of human filarial infection. The pulmonary manifestations of TPE have been well described. Extra-pulmonary features of the disease, although not commonly seen, have been reported previously. A 9-year-old Malay girl with a history of recurrent cough and wheezing was admitted because of cardiac failure. Physical examination revealed a very sick girl with tachypnoea, central cyanosis, finger clubbing, elevated jugular venous pulse, generalized crackles and rhonchi in the chest, a loud second heart sound and hepatosplenomegaly. A chest radiograph showed cardiomegaly and right pleural effusion. Laboratory investigations revealed hypochromic, microcytic anaemia with persistent blood eosinophilia (absolute eosinophil counts varied from 1.9 to 5.5 x 10(9)/1). The ELISA test for antifilarial IgG antibodies was strongly positive. She responded promptly to treatment with diethylcarbamazine. In summary, this is a patient with TPE who presented with cor pulmonale, probably due to late-stage interstitial pulmonary fibrosis. In order to prevent the long term morbidity of cardiorespiratory disability, the early signs of TPE should be recognized and the infection treated.
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PMID:Cor pulmonale: an unusual presentation of tropical eosinophilia. 917 82