Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038002 (splenomegaly)
 9,873 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This report concerns a 6-year-old child with severe dyseythropoietic anaemia and splenomegaly, apparently present since the first months of life. Striking anisopolikilocytosis was observed in the blood smear. The bone marrow showed marked erythroblastic hyperplasia with dyserythropoiesis. Ineffective erythropoiesis was demonstrated by ferrokinetic studies. Ultrastructurally erythroblasts appeared grossly abnormal. The clinical course was progressively worsening, necessitating repeated transfusions. The patient's father, also affected by a chronic anaemia of moderate degree since childhood, had a peripheral picture of anisopoikilocytosis, a shortened life span of the erythrocyte and in his bone marrow an erythroblastic hyperplasia with many atypical erythroblasts. His condition deteriorated because of persistent jaundice, biliary cholelithiasis, fibrosis and haemosiderosis of the liver. The clinical course, the pattern of the genetical transmission, the peculiar features of the erythroblasts disclosed by light and by electron microscope studies suggest that these cases represent a new type of congenital dyserythropoietic anaemia.
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PMID:A new type of congenital dyserythropoietic anaemia. 69 27

A second instance of the unstable mutant Hb Nottingham (alpha2beta2 (FG5) 98 Val leads to Gly) is reported in a 7-year-old boy. Because of splenomegaly, cholelithiasis, and frequent episodes of abdominal pain, he underwent a splenectomy and cholecystectomy at age 6. The surgery resulted in both an amelioration of his RBC destruction and an acceleration of his rate of growth.
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PMID:Hb Nottingham (alpha2beta2 (FG5) 98 val leads to gly) in a Caucasian male: clinical and biosynthetic studies. 70 Oct 88

Fifty patients with late-onset idiopathic immunoglobulin deficiency were studied and the frequency of various clinical associations and complications was observed. Men and women were equally affected, although the age at onset in men peaked in the third decade whereas it was more uniformly distributed in women. Sinobronchopulmonary infections were common and were caused by Haemophilus influenzae. Diplococcus pneumoniae, Streptococcus pyogenes and Staphylococcus aureus: bronchiectasis occurred in 28 per cent. Thirty patients (60 per cent) had diarrhea, which was often associated with steatorrhea, giardiasis, achlorhydria, abnormal Schilling tests and morphologic abnormalities on small bowel biopsy specimens, including nodular lymphoid hyperplasia; three patients had pernicious anemia. In the 20 patients without diarrhea these abnormalities were not observed except for giardiasis in one patient and achlorhydria in two patients. Cholelithiasis occurred in both groups in about a third of the patients tested. A high degree of susceptibility to neoplasia was noted. Thyroid abnormalities, including primary hypothyroidism and Graves' disease, were observed in six patients. Additional occasional findings were vitiligo, keratoconjunctivitis sicca and arthritis. Splenomegaly occurred in 14 (28 per cent) patients. The percentage of B lymphocytes in the blood was determined in 10 patients; it was normal or slightly decreased in eight patients and low in two patients.
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PMID:Idiopathic late-onset immunoglobulin deficiency. Clinical observations in 50 patients. 78 41

The use of ultrasound in obstetrics is well established; however, its use in nonobstetric disease during pregnancy has not been emphasized. A diagnostic work-up during pregnancy is complicated by the fact that many of the usual tests require radiation to the fetus. This paper presents 3 cases in which ultrasonic scanning contributed to the diagnosis of nonobstetric disease during pregnancy. Postitive findings included enlarged edematous pancreas, gallstones, and splenomegaly. In 1 case, the finding of a normal gallbladder was helpful. When usual diagnostic procedures such as oral cholecystogram, retrograde endoscopic pancreatography, and nuclear medicine scans are perhaps contraindicated during pregnancy, the ultrasound scan is the diagnostic test of choice.
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PMID:Ultrasound diagnosis of nonobstetric disease during pregnancy. 94 83

The clinical and hematological features of 100 patients with sickle cell anemia are reviewed. The heart was enlarged and a murmur was heard in nearly 80 percent of patients. Pneumonia and pulmonary infarction occurred in 43 percent and 12 percent of patients, respectively. Musculoskeletal involvement included the hand-foot syndrome (15 percent), leg ulcers (55 percent), aseptic necrosis ofbone (11 percent), and osteomyelitis (4 percent). Symptoms and signs related to the gastrointestinal system included jaundice (55 percent), hepatomegaly (50 percent), splenomegaly (23 percent), hepatitis (11 percent) and gallstones (9 percent). Three patients underwent cholecystectomy and three patients had their spleens removed. Pyelonephritis occurred in 17 patients, priapism in five and hematuria in seven. Nineteen women had 39 pregnancies, of which 35 resulted in the birth of healthy infants. At least 328 painful crises occurred in 73 patients. There were also 13 hemolytic crises, eight sequestration crises, and five aplastic crises. A trail of alkali therapy in 33 crises in children failed to produce beneficial effects greater than hydration and analgesics alone as used in the control group. Laboratory findings in the 100 patients were comparable to those previously reported in the literature. The renal concentrating defect in most patients was confirmed. There were six deaths: hepatic coma secondary to post-transfusion hepatitis, thrombosis of inferior vena cava, congestive heart failure, exsanguination from erosion of the pancreaticoduodenal artery, extensive bronchopneumonia, and pulmonary infarction.
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PMID:Sickle cell anemia- clinical manifestations in 100 patients and review of the literature. 113 Apr 36

Abdominal ultrasound examination was given to 715 (566 male and 149 female) adult non-manual workers in Tokyo as part of their annually required medical check-up. Gross abnormalities were found in 44.5% of males and 34.2% of females. The most common finding was fatty liver (15.2%), seen four times as frequently in males as in females. There were 93 elevated lesions in the gall-bladder in 56 subjects (7.8%); some required follow-up examinations because malignancy could not be excluded. Small cystic lesions were frequently seen in the kidney (6.4%) and in the liver (4.8%). Gallstones were found in 3.4%. Mild splenomegaly occurred in 3.4%. Ten mass lesions, 8 hyperechoic and 2 hypo-echoic, were found in the liver, but subsequent imaging studies showed them to be benign haemangiomas. Other changes found included calcific lesions in the liver (2.1%) and in the spleen (0.4%), renal stones (2.0%), thickened wall of the gall-bladder (3.2%), intramural stones (0.8%) and debris/sludge (0.4%) in the gall-bladder, dilated pancreatic duct (0.7%) and common bile duct (0.3%), liver cirrhosis (0.4%), hydronephrosis (0.1%), enlarged pancreas (0.1%), small pancreas (0.1%), ovarian tumour (0.1%), uterine tumour (0.1%), abnormally shaped kidney (0.1%) and situs inversus (0.1%). It was concluded that abdominal ultrasound is an important examination for a mass screening or a physical check-up commonly practised as the 'human dock' for adults in Japan.
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PMID:Frequency of abnormalities detected by abdominal ultrasound among Japanese adults. 191 25

Hereditary spherocytosis is a rather uncommon disease in Malaysia as only 16 patients were seen in our hospital over a 13 year period. Pallor, jaundice and splenomegaly were common physical signs. Clinical severity of the disease was variable and more than half of them needed splenectomy. Complications including haemolytic crisis and cholelithiasis were encountered but not aplastic crisis. All 10 patients who underwent splenectomy had uniformly good results and none of them had post-operative complications.
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PMID:Hereditary spherocytosis: a study of 16 patients from University Hospital, Kuala Lumpur. 201 10

Spherocytosis conditions the severe destruction of red blood cells. The spleen plays an active and fundamental role in this destruction since it is responsible for the fragility and lability of the red blood cell to the splenic medium. The clinical manifestations are: anemia, jaundice, splenomegaly, and hemolytic and aplastic crisis associated to viral infections. Choledocholithiasis is a manifestation of the disease which can be seen at an early stage, even in less severe cases. Choledocholithiasis is rare and this may be due to immediate surgical intervention. The levels of indirect bilirubin may vary but usually do not exceed 10 mg%, on the rising of direct bilirubin may cause suspicion of liver obstruction or damage. A case of a ten year old boy is reported who was found to have spherocytosis, with severe manifestations, who later developed cholelithiasis and total obstruction of the choledocho and in who the most important clinical manifestation was jaundice due to the increase of total bilirubin to 89 mg%, doubly checked. Both a splenectomy and a cholecystectomy were performed. Subsequent checkups were normal. These levels of bilirubin have not been previously reported. Hyperbilirubinemia; spherocytosis; choledocholithiasis.
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PMID:[Extreme hyperbilirubinemia associated with spherocytosis and choledocholithiasis]. 233 61

The clinical, haematological and biochemical features of 50 Sudanese patients with sickle cell disease (SCD) were determined. Of 23 patients with complete family data, 21 had sickle cell anaemia (homozygous HbSS), 2 had sickle-cell/beta+thalassaemia but none had sickle cell/beta Othalassaemia. The remaining 27 patients had HbSS phenotype. 84% of patients were from the Baggara tribe in western Sudan, where HbS is a natural extension of the west African HbS belt. 21 patients were children under 2 years old; 19 were 3-10 years old; and the remaining 10 were over 10 years old. Young patients presented mainly with painful vaso-occlusive crisis, severe anaemia, hand and foot syndrome, fever, underweight, malnutrition and various infectious diseases. All patients had mild to moderate cardiac enlargment; 42% had a moderately enlarged spleen but only 10% had an enlarged liver; 20% had infarctive lesions of long bones and another 8% had Salmonella osteomyelitis. Leg ulcers, priapism, enuresis and cholelithiasis were not observed. Patients had a mean haemoglobin concentration of 7.3 g/dl; reticulocyte count of 15.1%; serum bilirubin of 2.1 mg/dl; HbA2 level of 2.8% and HbF of 7%. Thus, the observed pattern of SCD in Sudan is comparable to the severe type described for Africans and not comparable to the benign form found in Shiite Moslem Arabs of Saudi Arabia. 6 adults with mild SCD had HbF levels below 5%. Amelioration of the disease, therefore, does not seem to be related to HbF levels; nor was it possible to relate it to high levels of erythrocyte 2,3-diphosphoglycerate.
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PMID:Sickle cell disease in Sudan. 245 19

Hereditary spherocytosis is the most common inherited anemia in persons of northern European descent. In 75 percent of cases, the condition is inherited in an autosomal dominant fashion. Patients usually present with splenomegaly, jaundice and anemia. A deficiency of the cytoskeletal protein spectrin is believed to underlie this hemolytic state. Affected individuals display a tendency to form pigmented (bilirubin) gallstones. Splenectomy may be essentially curative in the majority of patients.
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PMID:Hereditary spherocytosis. 264 87


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