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)

The syndrome of Shwachman is characterized by pancreatic insufficiency and bone marrow dysfunction, usually manifesting itself as neutropenia. The pancreas shows replacement of the exocrine glands by adipose tissue; sweat electrolytes are normal. A 23-year-old male who was known to suffer from neutropenia and pancreatic dysfunction from early childhood, presented with fever, acquired Pelger-Huet anomaly (of the polymorphonuclear granulocytes) and sideroblastic anaemia, a combination of symptoms suggestive of preleukaemia. A few months later he died of acute myeloblastic leukaemia and autopsy showed a dystrophic pancreas. Considering this case history it seems possible that the haematological anomalies of Shwachman's syndrome are signs of preleukaemia. Careful follow-up of patients suffering from Shwachman's syndrome seems warranted.
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PMID:Syndrome of Shwachman and leukaemia. 26 92

This study was designed to assess the functional efficiency of the ageing small intestine and the possible role of malabsorption in old people with nutritional deficiencies. Fifty subjects aged 65 to 92 years were studied, of whom 33 presented with anaemia, chronic diarrhoea or bone pains, and 17 were apparently healthy 'controls' with no relevant symptoms. Tests of intestinal function included blood xylose and iron absorption curves, a double isotope Schilling test, faecal fat, urinary indican and small bowel radiology, with duodenal aspiration and jejunal biopsy in some cases. On the basis either of steatorrhoea or at least two other abnormal parameters of absorption, there were 15 cases of malabsorption. Thirteen of these had symptoms but two were 'controls'. Four of these had duodenal diverticulosis, two had the post-gastrectomy syndrome, and one had calcific pancreatitis. Malabsorption in the remaining eight cases was not fully explained. The age range of this last group was 72--86 years; one of them had a contaminated small bowel and two showed some evidence of pancreatic insufficiency. Malabsorption emerged as a significant cause of low levels of serum iron, haemoglobin and calcium. The blood xylose test is a useful screening procedure for intestinal malabsorption in old age, but full evaluation calls for investigation of pancreatic function.
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PMID:The ageing gut: a study of intestinal absorption in relation to nutrition in the elderly. 68 55

The role of vitamin E in human nutrition was studied by investigation of patients with cystic fibrosis (CF) and associated pancreatic insufficiency. Vitamin E status was assessed by measurement of the plasma concentration of the principal circulating isomer, alpha-tocopherol. Results of such determinations in 52 CF patients with pancreatogenic steatorrhea revealed that all were deficient in the vitamin. The extent of decreased plasma tocopherol varied markedly but correlated with indices of intestinal malabsorption, such as the serum carotene concentration and percentage of dietary fat absorbed. Supplementation with 5-10 times the recommended daily allowance of vitamin E in a water-miscible form increased the plasma alpha-tocopherol concentrations to normal in all 19 CF patients so evaluated. Studies on the effects of vitamin E deficiency focused on possible hematologic alterations. An improved technique was developed to measure erythrocyte hemolysis in vitro in the presence of hydrogen peroxide. While erythrocyte suspensions from control subjects demonstrated resistance to hemolysis during a 3-h incubation, all samples from tocopherol-deficient CF patients showed abnormal oxidant susceptibility, evidenced by greater than 5% hemoglobin release. The degree of peroxide-induced hemolysis was related to the plasma alpha-tocopherol concentration in an inverse, sigmoidal manner. The possibility of in vivo hemolysis was assessed by measuring the survival of (51)Cr-labeled erythrocytes in 19 vitamin-E deficient patients. A moderate but statistically significant decrease in the mean (51)Cr erythrocyte half-life value was found in this group. Measurement of erythrocyte survival before and after supplementation of 6 patients with vitamin E demonstrated that the shortened erythrocyte lifespan could be corrected to normal with this treatment. Other hematologic indices in deficient subjects, however, were normal and did not change upon supplementation with vitamin E. It is concluded that CF is invariably associated with vitamin E deficiency, provided that the patient in question has pancreatic achylia and is not taking supplementary doses of tocopherol. Concomitant hematologic effects consistent with mild hemolysis, but not anemia, occur and may be reversed with vitamin E therapy. Patients with CF should be given daily doses of a water-miscible form of vitamin E to correct the deficiency.
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PMID:The occurrence and effects of human vitamin E deficiency. A study in patients with cystic fibrosis. 87 86

A patient with the Pearson marrow and pancreas syndrome is presented. She showed an anaemia with neutropenia and thrombopenia, failure to thrive, diarrhoea, disturbed glucose homeostasis and lactic acidosis. An exocrine pancreatic insufficiency was lacking. The disease followed a fatal course. Biochemical investigations of skeletal muscle revealed a disturbed mitochondrial energy metabolism, while many ultrastructural abnormal features were observed in the muscle tissue. Molecular genetic studies showed a de novo deletion in the mitochondrial DNA (mtDNA), different in size from the already published deletions and flanked by two 4 bp direct repeats, interspaced by 4-5 non-repeated nucleotides. mtDNA from 12 other tissues showed the same deletion in different percentages. No obvious relation between these percentages and tissue dysfunction was found. In spite of an open reading frame of 74 codons, only little transcription product of the genomic region resulting from the deletion was found.
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PMID:Myopathology and a mitochondrial DNA deletion in the Pearson marrow and pancreas syndrome. 148 44

The present study attempts on one hand to study the metabolic disorders which may present themselves in the gastrectomized patient, such as the malabsorption of fat, vitamin B12, folic acid and iron as well as the possible correlation between steatorrhea and the presence of exocrine pancreatic insufficiency. For this purpose a group of 71 patients have been studied who have undergone a subtotal gastrectomy (70.42%) or total (29.58%) in the General Surgery Services of Elche. The results obtained show the presence of ferropenic or megaloblastic anemia in 61.97% of the group, serious steatorrhea in only 3 patients (4.22%) and calciumphosphorous metabolism alterations appeared in 21.13%. With this we conclude that anemia is the most frequent ferropenic alteration in the gastrectomy patient; steatorrhea does not seem to be produced exclusively by the presence of exocrine pancreatic insufficiency and bone alterations in the gastrectomized patient appear in an insidious manner, being more a question of biochemical alterations than actual clinical lesions.
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PMID:[Metabolic disorders in the gastrectomized patient]. 209 Jan 70

The occurrence of chronic mucocutaneous candidiasis accompanying polyglandular autoimmune syndrome type I is reported in a female aged 13. Apart the candidiasis, since the age of 3, she had convulsions beginning at 6, cataract at 9, teeth abnormalities, and basal ganglia calcifications. Laboratory data confirmed the diagnosis of hypoparathyroidism. This picture was accompanied by intestinal malabsorption, leading to a state of progressive malnutrition, with intense hypoalbuminemia and anemia. Although the pathophysiology of malabsorption, in these cases, is still not clear, the therapeutic response to pancreatin, in the present case, suggested pancreatic insufficiency, reinforced by the normal d-xylose test and the small intestinal biopsy with inexpressive result.
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PMID:[Polyglandular autoimmune type I syndrome with hypoparathyroidism, chronic mucocutaneous candidiasis and intestinal malabsorption]. 213 67

Shwachman's syndrome is, after cystic fibrosis, the most common cause of exocrine pancreatic insufficiency in childhood. The cause of the disorder is not known but we were struck by the fact that the histological appearances of pancreatic atrophy in this condition resemble those seen in experimental copper deficiency, in which the pancreatic acinar damage persists long after the copper deficiency is relieved. Other features of Shwachman's syndrome include neutropenia, anaemia and abnormalities of the ribs and of the metaphyses of long bones. All these findings have also been reported in children with copper deficiency during the 1st year of life. We suggest that some or all cases of Shwachman's syndrome are caused by a period of copper deficiency in early infancy.
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PMID:Hypothesis: Shwachman's syndrome of exocrine pancreatic insufficiency may be caused by neonatal copper deficiency. 319 Jan 62

The symptom complex--hypoproteinemia, edema and anemia--occurs in approximately 5 percent of CF-patients during the first 6 months of life. Since milk is the only nutritional source in this age group, a hypocaloric nutrition respectively marginaly low protein intake may contribute to these symptoms in case of an exocrine pancreatic insufficiency. Even if breast milk and soy bean formulas can advance the disease it must be mentioned that relapses of the symptom triad had never occurred under pancreatic enzyme supplementation independently of the source of milk being fed. A cow's milk protein intolerance and coincidental exocrine pancreatic insufficiency lead to the symptom complex in an infant in spite of an adequate caloric and protein intake. This case revealed again that sweat electrolyte tests are unreliable during the acute period of disease, sweat tests were positive when the presenting symptoms were resolved. The case demonstrates that repeated sweat chloride tests are mandatory during an asymptomatic phase of disease besides the exclusion of a renal or cardiac origin of the symptom complex. An early postnatal diagnosis of CF and immediate initiation of pancreatic enzyme and fat soluble vitamin supplementation could prevent such courses of disease.
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PMID:[Manifestation of intolerance to cow's milk protein in mucoviscidosis with the symptom triad of hypoproteinemia, edema and anemia]. 343 Oct 24

21 patients (10 male, 11 female) aged between 11 months and 29 years with Shwachman's syndrome are reviewed. All patients had exocrine pancreatic insufficiency. Haematological features included neutropenia in 19 (95%), anaemia in 10 (50%), and thrombocytopenia in 14 (70%); one patient developed erythroleukaemia. Severe infections occurred in 17 (85%) from which 3 (15%) died. Only one child exceeded the 3rd centile for height, and growth retardation was particularly evident in the older patients. All had skeletal abnormalities or delayed skeletal maturation, or both. Metaphyseal dyschondroplasia affected 13 of the older patients and was associated with skeletal deformities. Eight of 9 children under 2 1/2 years had rib abnormalities. Respiratory function tests in children under 2 years demonstrated reduced thoracic gas volume and chest wall compliance. Older patients had reduced forced expiratory volume and forced vital capacity. Neurological assessment showed developmental retardation or reduced IQ assessments, or both, in 85% of patients studied. Other neurological abnormalities included hypotonia, deafness, and retinitis pigmentosa. Neonatal problems had been present in 16 (80%) of the patients and 5 were of low birthweights. Hepatomegaly with biochemical evidence of liver involvement occurred in the younger patients and resolved with age. Other associated features included dental abnormalities, renal dysfunction, an icthyotic maculopapular rash in 13 (65%), delayed puberty, diabetes mellitus, and various dysmorphic features. These findings stress the diverse manifestations of the syndrome and extend knowledge on a number of aspects. Sibship segregation ratios support an autosomal mode of inheritance and an hypothesis for the pathophysiological basis of this syndrome is advanced.
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PMID:Shwachman's syndrome. A review of 21 cases. 743 69

Parvovirus B19 (PVB19) is the causative agent of infectious erythema. In healthy children the virus causes transient erythroid aplasia, whereas in children with chronic hemolytic anemias it can cause severe aplastic crises, and in immunodeficient individuals it can produce chronic red cell aplasia. If contracted during pregnancy, the infection may induce serious damage to the fetus (abortion or hydrops fetalis). Shwachman-Diamond (S-D) syndrome, a rare autosomal recessive condition, consists of exocrine pancreatic insufficiency plus neutropenia; many patients develop either anemia or thrombocytopenia or both. We describe a newborn baby with severe congenital bone marrow failure who was diagnosed with S-D syndrome and persistence of PVB19 virus contracted by the mother in the third trimester of pregnancy.
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PMID:Severe Shwachman-Diamond syndrome and invasive parvovirus B19 infection. 894 Jul 40


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