Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019209 (hepatomegaly)
 5,798 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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

The records of 45 children admitted to the Save The Children Fund (UK) Clinic, Dhankuta, East Nepal for nutritional rehabilitation, and who subsequently died, were compared with those of 200 survivors admitted during the same period. Children who died were more likely to have attended the clinic previously (P less than 0.02), and tended to be younger and lighter than controls. A poor outcome was associated with oedema (P less than 0.02), hepatomegaly (P less than 0.01), suspected tuberculosis (P less than 0.001) and various socioeconomic factors: children who died came from larger families, 'single parent' families (P less than 0.01), and were more likely to have lost a sibling (P less than 0.01). The irrigated landholdings of dying children's families were on average approximately half the size of those of survivors' families. These socioeconomic factors were associated with more severe malnutrition at presentation. The identification of factors associated with a poor prognosis can help to focus admission criteria and to monitor especially high-risk children where services for the acutely malnourished are limited.
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PMID:Mortality risk factors in acute protein-energy malnutrition. 249 64

This review article is mainly concerned with the incidence and pathogenesis of alcohol-induced liver diseases. Clinically the most relevant symptom is a hepatomegaly. During the course of the disease there is to state progression to alcoholic hepatitis with increasing jaundice. The laboratory values show different patterns; severe courses develop progression to a fulminant hepatitis. The diagnostic approach includes exact patient's medical history, clinical and laboratory investigations, followed by a step-wise diagnostic procedure including histology. Therapeutically the main approach is a diet, in case of malnutrition substitution of vitamins and only rarely the need of corticosteroids and/or anabolic steroids. Prognosis and long-term course of alcoholic-induced liver disease depend mainly on the severity of the disease and the consequent alcohol-free diet.
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PMID:[Alcohol-induced liver diseases]. 265 33

Hepatomegaly and steatosis are common findings in children with cystic fibrosis and are most often attributed to malnutrition. An infant fed a carnitine-free soy formula is described. Massive hepatomegaly and steatosis developed in the baby at a time of severe viral respiratory illness, prolonged fasting, hypoglycemia, and hypoketonuria. The infant was found to have secondary plasma carnitine deficiency and excessive loss of carnitine in the urine as part of a more generalized renal tubular dysfunction accompanying vitamin D deficiency and secondary hyperparathyroidism. With correction of the metabolic abnormalities and institution of a high carnitine diet, the hepatomegaly disappeared, plasma carnitine returned to normal levels, and the renal carnitine loss ceased. The findings suggest that secondary carnitine deficiency may play a role in fatty infiltration of the liver in patients with cystic fibrosis, especially during times of severe fasting stress.
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PMID:Massive hepatomegaly, steatosis, and secondary plasma carnitine deficiency in an infant with cystic fibrosis. 202 May 30

Four infants had noninfectious intractable diarrhea, vomiting, anasarca, hepatomegaly, hypoglycemia, and malnutrition within the first 3 months of life. Their parents originated from the same Northeastern part of Quebec, and consanguinity was found in two kindreds. Diarrhea was secretory in three infants (mean stool volume 87 ml/kg/day, Na+ 108 mEq/L, Cl- 85 mEq/L). Hypoalbuminemia (mean 2.0 gm/dl), present in all infants, appeared to be secondary to a protein-losing enteropathy, which was documented in two infants. Histologic examination of the upper small intestine showed only mild to moderate villous atrophy. The remarkable findings were those of cystic dilation of the crypts and acute inflammation of crypts and lamina propria, all of which were most prominent in the colon and terminal ileum; the changes were progressive over time. Mild lymphangiectasia was found in all of the patients. Congenital hepatic fibrosis, present in all, was associated in one patient with a nonfunctional multicystic kidney. Prolonged total parenteral nutrition, intravenously administered albumin, antisecretory agents, and antibiotics were unsuccessful in controlling the disease. Although a total colectomy was followed by a temporary decrease in stool output and normalization of serum albumin concentration in one infant, the patients died between 4 and 21 months of age.
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PMID:Secretory diarrhea with protein-losing enteropathy, enterocolitis cystica superficialis, intestinal lymphangiectasia, and congenital hepatic fibrosis: a new syndrome. 308 May 72

HIV infection was present in 18 out of 40 (45%) consecutive malnourished children aged 2 to 29 months in pediatric wards of Bujumbura, Burundi. No difference was observed within and between the seropositive and seronegative groups for sex and anthropometric measures. HIV seropositive cases could be explained by a HIV seropositive mother (83%) or by a transfusion history (17%). The onset of marasmus was earlier in the HIV seropositive group (5 cases observed less than 6 months old compared to none of the other group, Fischer's exact test: P = 0.026). A more complex clinical picture was seen in the HIV seropositive cases (12/18 compared to 4/22, Fischer's exact test: P = 0.004) with the presence of hepatomegaly, adenopathy, thrush, dyspnoea and skin disorders. No difference was observed concerning fever and diarrhoea. HIV seropositive group tended to show a higher hospitalisation frequency and did not well respond to high protein-energy diet: 7 were discharged without gain weight compared to none of the other group (Fischer's exact test: P = 0.011). These results suggest a high rate of vertical transmission mother-child for HIV infection and a frequent association of malnutrition and HIV infection in hospitalized children in Burundi. Marasmic children less than 6 months old should be highly suspected of HIV infection.
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PMID:[Malnutrition and HIV infection in children in a hospital milieu in Burundi]. 313 33

The medical history, clinical features and investigations of 145 children with kwashiorkor were compared with 113 marasmic kwashiorkor, 158 marasmic children and 186 nutritionally normal controls of similar age admitted to hospital in Khartoum. Factors in the group with protein-energy malnutrition (PEM) which could relate to aetiology include: a history of prolonged illness and anorexia, frequent and prolonged episodes of diarrhoea and recent measles. The delay in achievement of developmental milestones in PEM children probably reflects the frequent and chronic illnesses in this group. An episode of previous oedema was reported in 22 per cent of marasmic kwashiorkor, 12 per cent of kwashiorkor and 12 per cent of marasmic children. Though hair and mucosal changes and enlarged liver were more common in the marasmic kwashiorkor and kwashiorkor groups, they were also common in marasmic children. There was no significant difference in behaviour (apathy, irritability, anorexia) between kwashiorkor and marasmic children. The classical skin changes of kwashiorkor were only seen in the oedematous children. The mortality was 19 per cent in kwashiorkor, 35 per cent in marasmic kwashiorkor, and 14.5 per cent in the marasmic group. The major differences between marasmus and kwashiorkor children were that the kwashiorkor children were reported larger at birth, achieved more normal developmental milestones, were taller and had larger head circumference than the marasmic children. The implications of these findings in relation to aetiology are discussed.
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PMID:Protein-energy malnutrition in northern Sudan: clinical studies. 314 Nov 44

The liver in an infant or child is as liable to the same pathologies afflicting the adult liver but with certain differences in prevalence and causes. Genetic disorders are more likely to present in the paediatric age group where many involve metabolic processes such as galactosemia, phenylketonuria, glycogen storage disease and others. Many of these present in the newborn period. However, neoplasms and hamartomas also present in the newborn period, such as congenital neuroblastoma with an enormously enlarged liver, hepatoblastoma and haemangioma. The latter may present with intractable cardiac failure as a result of considerable shunting of blood. Acquired liver lesions often present in the newborn period or early infancy and this includes hepatitis and biliary atresia. The difficulties in the differentiation of the two lesions will be discussed together with the management of biliary atresia. As the child grows older, Reyes encephalopathy with microvesicular fat in the liver is not uncommon. The pathophysiology of Reyes encephalopathy as seen locally will be described. The choledochal cyst with direct (Caroli's disease) or indirect effect on the liver will be described. Problems of childhood portal hypertension as well as congenital hepatic fibrosis will be described. Hemosiderosis of the liver is chiefly seen in homozygous beta-thalassaemia patients who have been kept alive with repeated blood transfusions. Amoebic and pyogenic hepatitis, fatty liver due to protein malnutrition, biliary ascariasis, etc, which are common in tropical and subtropical countries are rarely seen now in Singapore children.
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PMID:Paediatric liver disorders in Singapore. 346 38

Thirteen patients with systemic mast cell disease were studied in order to define the hepatic changes in this disease and to correlate the histologic lesions in the liver with the clinical findings. These patients often presented with multisystem disorders and 10 had hepatomegaly. Microscopically, the liver tissues in all patients showed fibrosis and chronic inflammatory cellular infiltration with plasma cells, lymphocytes, eosinophils, and mononuclear fibroblast-like cells in the portal area. The hepatic sinusoids were not significantly involved. A histologic diagnosis of systemic mast cell disease is seldom entertained in liver biopsy specimens embedded in paraffin and stained with hematoxylineosin, but can be facilitated in biopsy specimens embedded in plastic such as methacrylate. Tissue mast cells in the cellular infiltrate can be demonstrated best by special staining techniques with Giemsa, toluidine blue, and chloroacetate esterase. The severity of the histologic changes in the liver does not correlate well with the size of the liver or biochemical changes in the blood. Abnormal serum biochemical values were noted primarily in those with dehydration caused by diarrhea and vomiting, and in those with malnutrition. Hepatic function test results were usually normal, except for alkaline phosphatase level, which was elevated in all 13 patients. Although the clinical significance of hepatic involvement in systemic mast cell disease cannot be established with certainty in this study, it is believed that the prognosis of systemic mast cell disease is most intricately related to the systemic effects of mast cell involvement in many other organs, and not to hepatic involvement per se.
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PMID:Hepatic involvement in systemic mast cell disease. 370 70

Patients with the cerebrohepatorenal syndrome of Zellweger lack peroxisomes and certain peroxisomal enzymes such as dihydroxyacetone phosphate acyltransferase in their tissues. Deficiency of this enzyme, which is necessary for glycerol ether lipid synthesis, provides a biochemical method for recognizing patients with subtle manifestations of Zellweger syndrome and suggests the utility of exogenous ether lipid precursors as a therapeutic strategy for these children. We describe the results of glycerol ether lipid supplementation to two children, one with classic Zellweger syndrome and 9% of control fibroblast dihydroxyacetone phosphate acyltransferase activity, and one with mild facial manifestations, wide sutures, hypotonia, developmental delay, hepatomegaly, peripheral retinal pigmentation, and 50% of control fibroblast dihydroxyacetone phosphate acyltransferase activity. An increase in erythrocyte plasmalogen levels following therapy was clearly demonstrated in the milder patient, and neither patient showed evidence of toxicity. Evaluation of therapy by comparison to the usual clinical course of Zellweger syndrome was not helpful because of the variability and incomplete documentation of 90 previously reported cases. The literature survey did provide criteria for classic Zellweger syndrome, which include hypotonia with or without deformation of limbs, large fontanels and split sutures, prominent forehead, flattened facial profile with hypoplastic supraorbital ridges, anteverted nares, highly arched palate, cryptorchidism or labial hypoplasia, hepatomegaly or elevated liver enzymes, peripheral pigmentation of the retina, renal cortical cysts, and characteristic neuropathology involving decreased myelinization, abnormal neuronal migration, and sudanophilic macrophages. Less severe patients, as exemplified by our case 2 and others from the literature, will not have all the classic features and can be recognized only by a growing panel of biochemical indicators. Our patient studies illustrate the complexity of designing comprehensive therapy for Zellweger-like conditions, suggest other diseases that may involve peroxisomal alterations, and emphasize the need for multicenter, collaborative studies to evaluate biochemical heterogeneity and therapy of peroxisomal disorders.
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PMID:Zellweger syndrome: diagnostic assays, syndrome delineation, and potential therapy. 370 14


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