Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002871 (anemia)
 52,094 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Cystic fibrosis is a genetic disorder characterized by chronic obstructive pulmonary disease, pancreatic exocrine deficiency, and abnormally high sweat electrolyte concentrations. Less frequently, the presenting features in infants may include edema, anemia, hypoproteinemia, and acrodermatitis enteropathica. Liver involvement may produce hepatomegaly and mild elevation of transaminases. This clinical symptom usually presents within the first 6 months of life and is associated with a high morbidity and mortality. Early recognition and institution of appropriate nutritional supplementation and pancreatic enzymes is essential to improve outcome. Since the sweat test may be falsely negative, emergency physicians must maintain a high index of suspicion to make the diagnosis of cystic fibrosis in an infant who presents with edema, anemia, hypoproteinemia, and acrodermatitis enteropathica.
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PMID:Edema, anemia, hypoproteinemia, and acrodermatitis enteropathica: an uncommon initial presentation of cystic fibrosis. 1475 9

Certain autosomal recessive disease conditions are more prevalent in individuals of Eastern European Jewish (Ashkenazi) descent. Previously, the American College of Obstetricians and Gynecologists recommended that individuals of Eastern European Jewish ancestry be offered carrier screening for Tay-Sachs disease, Canavan disease, and cystic fibrosis as part of routine obstetric care. Based on the criteria used to justify offering carrier screening for Tay-Sachs disease, Canavan disease, and cystic fibrosis, the American College of Obstetricians and Gynecologists' Committee on Genetics recommends that couples of Ashkenazi Jewish ancestry also should be offered carrier screening for familial dysautonomia. Individuals of Ashkenazi Jewish descent may inquire about the availability of carrier screening for other disorders. Carrier screening is available for mucolipidosis IV Niemann-Pick disease type A, Fanconi anemia group C, Bloom syndrome, and Gaucher's disease.
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PMID:ACOG committee opinion. Number 298, August 2004. Prenatal and preconceptional carrier screening for genetic diseases in individuals of Eastern European Jewish descent. 1529 27

Patients with chronic hypoxaemia develop secondary polycythaemia that improves oxygen-carrying capacity. Therefore, normal haemoglobin and haematocrit values in the presence of chronic arterial hypoxaemia in cystic fibrosis constitute 'relative anaemia'. We sought to determine the cause of this relative anaemia in patients with cystic fibrosis. We studied haematological indices and oxygen saturation in healthy volunteers (n=17) and in adult patients with cystic fibrosis (n=15). Patients with cystic fibrosis had lower resting arterial oxygen saturation when compared with normal volunteers (P<0.0001), and exercise led to a greater reduction in arterial oxygen saturation (P<0.0001). However, haemoglobin and haematocrit values in patients with cystic fibrosis did not significantly differ from normal volunteers. Serum iron (P=0.002), transferrin (P=0.02), and total iron-binding capacity (P=0.01) were lower in patients with cystic fibrosis. There were no significant differences in serum ferritin, percentage iron saturation, serum erythropoietin or red cell volume between the groups. The data presented demonstrate a characteristic picture of anaemia of chronic disease in adult patients with cystic fibrosis, except for normal haemoglobin and haematocrit values. Normal haemoglobin and haematocrit values in patients with cystic fibrosis appear to represent a combination of the effects of arterial hypoxaemia promoting polycythaemia, counterbalanced by chronic inflammation promoting anaemia of chronic disease.
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PMID:Subclinical anaemia of chronic disease in adult patients with cystic fibrosis. 1546 7

Epistasis or modifier genes, that is, gene-gene interactions of non-allelic partners, play a major role in susceptibility to common human diseases. This old genetic concept has experienced a major renaissance recently. Interestingly, epistatic genes can make the disease less severe, or make it more severe. Hence, most diseases are of different intensities in different individuals and in different ethnicities. This phenomenon affects sickle-cell anemia carriers and other hemoglobinopathies, systemic lupus erythematosus, cystic fibrosis, complex autoimmune diseases, venous thromboembolism, and many others. It is likely, and fortunate, than 20 years form now, patients entering a medical facility will be subjected to a genomic scanning, including pathogenic genes as well as epistatic genes.
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PMID:Epistasis and the genetics of human diseases. 1599 44

2 infants, a boy aged 8 weeks and a girl aged 5 months, presented with symptoms of fat-soluble vitamin deficiencies. The first infant had frequently voluminous bowel movements, anaemia and was not thriving; he had anaemia due to vitamin-E deficiency. The second infant had multiple haematomas on the trunk and legs due to a vitamin-K deficiency-related clotting disorder. The sweat test was positive in both cases, confirming the diagnosis of cystic fibrosis. The infants were treated with supplementary pancreatic enzymes and fat-soluble vitamins A, D, E and K. Cystic fibrosis rarely presents with symptoms of fat-soluble vitamin deficiency. However, in cases of unexplained haemolytic anaemia or haemorrhagic disorder due to vitamin E or K deficiencies, respectively, cystic fibrosis should be considered as a possible cause.
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PMID:[Haemolytic anaemia and a clotting disorder as first signs of cystic fibrosis in two infants]. 1620 4

Lentivirus-based gene transfer has the potential to efficiently deliver DNA-based therapies into non-dividing epithelial cells of the airway for the treatment of lung diseases such as cystic fibrosis. However, significant barriers both to lung-specific gene transfer and to production of lentivirus vectors must be overcome before these vectors can be routinely used for applications to the lung. In this study, we investigated whether the ability to produce lentiviral vectors pseudotyped with fowl plague virus hemagglutinin (HA) could be improved by co-expression of influenza virus M2 in vector-producing cells. We found that M2 expression led to a 10-30-fold increase in production of HA-pseudotyped lentivirus vectors based upon equine infectious anemia virus (EIAV) or human immunodeficiency virus type 1 (HIV-1). Experiments using the M2 inhibitor amantadine and a drug-resistant mutant of M2 established that the ion channel activity of M2 was important for M2-dependent augmentation of vector production. Furthermore, the neuraminidase activity necessary for particle release from producer cells could also be incorporated into producer cells by co-expression of influenza NA cDNA. Lentiviral vectors pseudotyped with influenza envelope proteins were able to efficiently transduce via the apical membrane of polarized mouse tracheal cultures in vitro as well as mouse tracheal epithelia in vivo.
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PMID:Influenza M2 envelope protein augments avian influenza hemagglutinin pseudotyping of lentiviral vectors. 1639 5

A girl and a boy, who both presented with recurrent respiratory infections from birth, were referred to a paediatrician at the age of 2.5 years: they were diagnosed with cystic fibrosis (CF). The girl died from respiratory insufficiency at the age of 6 years and the boy at the age of 13 years from pulmonary aspiration. A further girl and boy who presented with abnormal faeces and failure to thrive were referred to the paediatrician at the ages of 2.5 months with haematomas and 2 weeks with anaemia respectively, as a result of vitamin deficiencies due to malabsorption. They too had CF. The girl had a brain haemorrhage in the meantime that left her with serious impairments. The boy recovered. A delay in diagnosing CF is not uncommon, as the symptoms of CF are hard to differentiate from those of common childhood diseases. However, this diagnostic delay can result in serious organ damage. Current treatment of CF has a predominantly prophylactic character and aims at maintaining normal growth and nutritional status as well as at preventing or postponing chronic bacterial infection of the lower respiratory tract. This treatment is most effective when it is started before any organ damage has occurred: a state that can only be achieved when patients with CF are identified shortly after birth. Therefore, it is important to add CF-screening to the neonatal screening program.
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PMID:[Young children with serious disorders as a result of late diagnosis of cystic fibrosis]. 1680 70

We describe a female infant with an acrodermatitis enteropathica-like eruption as the presenting sign of rapidly fatal cystic fibrosis. The patient had growth retardation, developed an erythematous eruption unresponsive to oral zinc, and finally a generalized erosive dermatitis with associated edema, anemia and hypoproteinemia.
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PMID:Acrodermatitis enteropathica-like eruption and failure to thrive as presenting signs of cystic fibrosis. 1879 43

Ashkenazi Jews of Central and Eastern European ancestry have a disproportionately high prevalence of several autosomal recessive genetic disorders. This article describes these 9 disorders and their genetic inheritance patterns: Bloom syndrome; Canavan disease; cystic fibrosis; familial dysautonomia; Fanconi anemia; Gaucher disease; Mucolipidosis IV; Niemann-Pick disease; and Tay-Sachs disease. Genetic testing, counseling, and family planning options for the at-risk population are described. The role of the community health nurse is addressed.
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PMID:Selected genetic disorders affecting Ashkenazi Jewish families. 1714 32

Chronic lung disorders are usually associated with a hypoxia driven increase in red cell mass. However, patients with cystic fibrosis (CF) often have normal or decreased haemoglobin levels. The present prospective observational study in cystic fibrosis patients was performed to determine which factors were involved in alterations in the hematopoetic response to corresponding arterial oxygen pressure. Sixty adult patients (age 21-51) with stable CF were included. They all had vitamin A, D, E, and K but no vitamin B12 supplementation. Twenty-five patients were on oral Fe(2+) (100 mg/day). Resting arterial blood gases, lung function, complete blood counts, parameters of iron status, CRP, sputum microbiology and serum erythropoietin were measured at recruitment and after 3 and 6 months. Patients had varying degrees of pulmonary functional impairment and 9% were hypoxemic (arterial oxygen pressure <60 mm Hg). Low-grade systemic inflammation (CRP > 0.5 mg/dl) was present in 40% of the patients, who all had bacterial colonization. None of the patient had erythrocytosis and 12 patients had anemia. There was no significant difference in iron status between patients with or without chronic iron supplementation and erythropoietin levels were normal. During the 6 months observation period no significant changes occurred. The patients exhibited an impaired erythropoietic response to hypoxemia with normal or low hematocrit in spite of chronic lung disease which might be caused by chronic inflammation associated with CF. Linear multivariate regression analysis revealed CRP levels but neither iron substitution, nor erythropoietin levels nor lung function parameters as independent determinant of haemoglobin levels. CF may be associated with anemia of variable severity as expression of the chronic inflammation present in these patients. The therapeutic consequences are to treat the underlying inflammation rather than to supplement iron.
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PMID:Lung disease severity, chronic inflammation, iron deficiency, and erythropoietin response in adults with cystic fibrosis. 1794 83


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