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)

Some clinical clues should alert paediatricians to the possibility of metabolic liver diseases. They can be classified into three categories: (i) Manifestations due to hepatocellular necrosis, acute or subacute, which can reveal galactosaemia, hereditary fructose intolerance, tyrosinaemia type I, Wilson disease and alpha 1-antitrypsin deficiency. Symptoms and signs suggestive of Reye syndrome should lead to a study of fatty acid oxidation and urea cycle enzymes. All these manifestations may necessitate a rapid diagnosis and treatment when liver dysfunction is severe. (ii) Cholestatic jaundice can reveal alpha 1-antitrypsin deficiency, Byler's disease, cystic fibrosis, Niemann-Pick disease and some disorders of peroxisome biogenesis. (iii) Hepatomegaly can reveal disorders with liver damage but also storage diseases such as glycogen storage diseases, cholesteryl ester storage disease and, when associated with splenomegaly, lysosomal storage diseases. Appropriate investigations for recognizing all these entities are proposed.
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PMID:Clinical presentation of metabolic liver disease. 174 17

Splenectomy for massive splenomegaly and hypersplenism carries a significant morbidity and mortality. We have used partial splenic embolization (PSE) as an effective alternative to splenectomy. Ten PSE procedures were performed on nine patients without mortality and with minimal morbidity. The age of the patients ranged from 8 months to 32 years (mean 14 years). The causes of splenomegaly and hypersplenism included cystic fibrosis with cirrhosis (2), tyrosinemia and cirrhosis (1); thalassemia (1), hemophilia with Human Immune Deficiency Virus infection (2), chronic hepatitis with portal hypertension (1), malignant histiocytosis (1), and Wiskott-Aldrich Syndrome (1). All procedures were performed under local anesthesia with sedation. A percutaneous femoral artery approach to the splenic artery was used to deliver Ivalon sponge particles (280-800 microns) into the spleen. Splenic infarction was assessed by postembolization angiograms. All of the patients except one demonstrated improvement of hematologic parameters. In one patient, however, cytopenia improved only after a second embolization. In the total series, there was an early mean rise of 8,600/mm3 in the leukocyte count (range 2,900-14,900) and 212,000/mm3 in the platelet count (range 30,000-718,000). Follow-up ranged from 4 months to 7 years. Improvement of the blood picture has been persistent in seven of the eight patients who showed initial improvement. Transient procedural complications included fever (5), pleural effusion (2), pneumonia (1), and splenic abscess (1). One patient had paralytic ileus lasting for 10 days and one patient developed a streptococcal peritonitis 3 weeks after embolization. No patient developed pancreatitis or vascular compromise of other abdominal viscera.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Partial splenic embolization. An effective alternative to splenectomy for hypersplenism. 226 5

A 22-year-old man presented with pain in the right iliac fossa. Clinical examination suggested appendicitis and showed splenomegaly. Echography and abdominal CT-sca suggested the diagnosis of cystic fibrosis based on the association of signs of cirrhosis and pancreatic atrophy. The sweat test was positive. The hypothesis of a mucoid appendicular impaction with spontaneous regression was retained based on clinical and radiological signs. This atypical presentation of cystic fibrosis underscores the frequency of obstructive intestinal which occasionally reveals the disease in the adult, and on the absence in this case of otherwise frequently associated problems such as significant pulmonary disease and malnutrition.
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PMID:[Appendicular mucoid impaction disclosing mucoviscidosis with cirrhosis in a young adult without pulmonary lesion]. 340 94

Adult cystic fibrosis (CF) patients are increasingly diagnosed with hepatic cirrhosis, cholecystitis, and cholelithiasis. A continuing diagnostic problem is the early detection of cirrhosis prior to diffuse liver involvement. Sonography has been used in evaluating the pancreas, gallbladder, liver, and spleen in cystic fibrosis patients. We used a real-time mechanical sector scanner to study the portal veins in adult CF patients randomly selected from our CF population and correlated the portal vein diameters with liver function studies. A measurement greater than 12 mm was interpreted as a probable sign of portal hypertension. Of 21 patients studied, 14 had portal veins that measured greater than 12 mm, and 12 patients had (although not necessarily at the time of the exam) elevated serum alkaline phosphatase levels. Three patients had associated splenomegaly and thrombocytopenia, and 10 patients also exhibited cholelithiasis and abnormal gallbladders on sonography. Initial results indicate that portal vein measurement may be a sensitive indicator of early portal hypertension. Sonography may, thus, isolate patients at high risk for possible future complications. Serial sonograms can be performed easily in evaluating the progress of liver disease.
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PMID:Portal vein measurement by ultrasonography in patients with long-standing cystic fibrosis: preliminary observations. 354 Feb 61

The weights of the spleens of series of patients with various disorders of children dating from birth or early infancy and causing splenomegaly, with or without cirrhosis of the liver, were analyzed. The linear regression equation for spleen weight versus age in months for each disease was derived, and the rate constants from these equations were adjusted for the age range of the patients in each group. The original data of Coppoletta and Wolbach were used for normal values. The rates of splenic growth of appropriate entities for which the regression equation could be computed fell into three groups, with adjusted rate constants (growth of spleen in grams per month) of 6.53-6.95 (biliary atresia, thalassemia, and cirrhosis following neonatal hepatitis), 2.30-2.62 (cirrhosis of alpha-1-antitrypsin deficiency, infantile polycystic disease, and spherocytosis), and 1.06-1.11 (cystic fibrosis and idiopathic thrombocytopenic purpura). These classes of splenic growth rates are approximately 10, 3.7, and 1.6 times the normal growth rate (0.67 g/mo). Rate constants could not be computed for the categories cirrhosis following viral hepatitis and hemolytic anemia other than spherocytosis and sickle cell anemia, and the numbers of patients with splenic vein obstruction, cirrhosis with the cholestatic syndrome of parenteral alimentation, hypoplastic anemia with hemosiderosis, tyrosinemia, Byler's disease, congenital hepatic fibrosis, and Wilson's disease were too few for analysis. The significance of the finding of classes or "quantum groups" of splenic growth rates in disorders of children, dating from birth or early infancy and causing splenomegaly, is uncertain. Comparable data on adequate series of patients with other appropriate disorders will be necessary.
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PMID:Splenic growth rates in cirrhotic and other splenomegalic diseases of childhood. 384 62

Abdominal ultrasonography was performed on 35 adult patients with proven cystic fibrosis. Thirty-three patients showed pancreatic abnormalities. The most marked ultrasonographic features were increased parenchymal echogenicity, atrophy, non-visualisation of the duct and cyst formation. There was no correlation between these features and the severity of the pulmonary disease, the age of the patient, weight or glucose intolerance. Abnormalities of the biliary tract were demonstrated in nine (26%) patients and were associated with poor nutritional status. Multivariate analysis revealed a significant association between the following: hepatomegaly, increased liver echogenicity, splenomegaly, biliary disease; secondly, between lung function and serum albumin. Ultrasonography is useful in showing organ morphology but not in assessing disease severity.
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PMID:Cystic fibrosis: ultrasonographic findings in the pancreas and hepatobiliary system correlated with clinical data and pathology. 390 96

A boy suffering from cystic fibrosis (CF) complicated by generalized amyloidosis is reported. His condition was fairly good during the first 10 years of life, but after this time he had repeated pulmonary infections caused by Staphylococcus aureus. From the age of 14, he developed increasing hepato- and splenomegaly and a liver biopsy revealed massive amyloidosis. At the age of 16 he died of respiratory and cardiac failure. Post-mortem examination revealed wide-spread amyloidosis in addition to pulmonary and pancreatic findings characteristic of CF.
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PMID:Generalized amyloidosis in cystic fibrosis. 401 82

Ultrasound scans of the upper abdomen were carried out in fifty patients with cystic fibrosis (age 2 to 26 years). 38% showed an abnormal hepatic sonogram. On eight occasions it was possible to confirm these changes by a liver biopsy. In 14% there was homogenous increase in liver echoes. 22% showed an non-homogeneous liver structure due to fibrotic and cirrhotic changes and cholangitis. Four of these patients had splenomegaly due to portal hypertension. 85% of the pancreatic scans which could be evaluated showed small pancreases with high echoes. Cholelithiasis was not present in any. Sonography of the upper abdomen is the method of choice for evaluating the liver, biliary system, pancreas and spleen.
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PMID:[Sonography of the upper abdomen in cystic fibrosis (author's transl)]. 621 22

Abdominal ultrasound imaging was performed in 50 children. Thirty nine were proved to have cystic fibrosis while 11 had respiratory infections and thus acted as controls. The pancreas was abnormal in 75% of cystic fibrosis patients aged under 5 years and in 95% over 5 years. In cystic fibrosis patients over 5 years old who had malabsorption, the pancreas was abnormal in 100%. Abnormalities of the liver parenchyma were found in 23%, of the gallbladder in 24%, and splenomegaly in 8% of the cystic fibrosis patients.
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PMID:Ultrasonography of the pancreas, liver, and biliary system in cystic fibrosis. 638 11

The abdominal sonograms of 24 patients with cystic fibrosis aged 8-30 years were reviewed. Most patients had abnormal scans; the number and severity of organs involved tended to increase with age. When the pancreas was identified, it was usually echogenic and small. Cholelithiasis, microgallbladder, and obstruction of the common bile duct were observed. Textural changes in the liver reflected underlying parenchymal disease; splenomegaly and portal hypertension occurred in responses to severe hepatic involvement. A few patients had thick gastric or duodenal wall.
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PMID:Cystic fibrosis: its characteristic appearance on abdominal sonography. 676 37


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