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 classical features of Type I glycogen storage disease (McKusick 23220) (GSD) are hepatomegaly, hypoglycaemia, and acidosis, enlargement of the kidneys and short stature. Glucose-6-phosphatase (EC 3.1.3.9) activity is defective not only in liver and kidney but also in small intestine (Field et al., 1965). In addition to the classical features, many patients suffer from episodes of diarrhoea (Fine et al., 1969). At the Hospital for Sick Children, Great Ormond Street, patients with the commoner forms of hepatic glycogen storage disease have episodes of diarrhoea or loose stools more commonly than was suspected. We have investigated small intestinal function in three patients with Type I GSD by both in vitro and in vivo techniques.
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PMID:Disordered intestinal function in glycogen storage disease. 22 44

Clinical and biochemical diagnostic studies concerned 17 cases of galactosemia coming from 15 not consauguineous families. Galactosemia was diagnosed between 1-st day and 11-th month of life. Tentative diagnosis based on clinical picture was made in 12 infants, others were detected through family history of galactosemia and/or biochemical newborn screening carried out at the National Research Institute of Mother and Child since 1969. Clinical symptoms of galactosemia occurred in most patients in the first week of life. They were the following (tab. II): hepatomegaly (in 94%), jaundice (81%), splenomegaly (79%), vomitus (62%) and diarrhoea in 56% of patients. Cataract was found in 6 infants (38%). Biochemical diagnosis was based on the results of enzymatic estimation of galactose-1-phosphate uridyl transferase activity in blood, galactose-1-phosphate in red blood cells and galactose in blood and urine. No activity of galactose-1-phosphate uridyl transferase was found in all patients, and the concentration of galactose-1-phosphate was higher than 25 mg/100 ml of red blood cells. High galactose level was observed in blood and urine in all patients with typical clinical course of galactosemia. In 2 patients however without clinical symptoms of the disease only trace amounts of galactose was detected in blood and urine. All these patients were treated with galactose free diet.
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PMID:[Clinical and biochemical diagnosis of galactosemia among our cases]. 26 27

Barrio San Antonio is a coastal settlement on the San Juanico straits in the municipality of Basey on the island of Samar, the Philippines. It has a population of approximately 1,900 in 320 households. Initially, 851 residents (45%) of 240 households participated in this survey to determine the prevalence and intensity of Schistosoma japonicum infection, and morbidity as indicated by associated hepatomegaly and splenomegaly. As a result of an initial single stool examination of 1 ml by a modified formalin concentration technique, 40% of this population was found to be infected. On subsequent examinations, with the addition of serologic techniques and recording the history of therapy, approximately 70% of this population was found to be infected with S. japonicum after the age of 10 years. If judged by the number of eggs produced per milliliter of feces, infection intensity in this population might be considered to be low. However, 25% (73 of 391 positives on single examination) exhibited schistosomal hepatomegaly or hepato-splenomegaly and had a mean egg count of 10.9. Those infected but without hepatomegaly had a slightly lower mean egg count of 8.4. Of the infected males with hepatomegaly, 75% were 19 years of age or less and 45% of these were producing less than 10 eggs/ml of stool. Of infected females with hepatomegaly, only 28% were 19 years of age or less, and 68% of these were producing less than 10 eggs/ml. Abdominal pain, distress, diarrhea, and dysentery were significantly more frequent in the infected than uninfected persons, and this frequency was related to egg output. The heights and weights of these infected individuals were less than those of the uninfected members of this population and significantly less than the Filipino norm. The small percentage of the infected population (6.6%) that were producing 51% of the eggs had a mean egg count of approximately 260 with a mean age of 33.7. In this group, 7 of the 22 individuals were in the age group 10--14 years and 15 were above 20 years of age. Although some individuals of Barrio San Antonio have sought therapy, this population and area have been largely unstudied and have not up to the present been involved in control or mass chemotherapy programs. The findings of this survey give an opportunity to determine the impact of such programs when they are instituted in this area.
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PMID:Schistosomiasis japonica in Barrio San Antonio, Basey, Samar , The Philippines. I. Epidemiology and morbidity. 31 24

Clinical data on 24 civilian patients hospitalized for malaria in The New York Hospital were analyzed. Of 16 patients infected with Plasmodium falciparum, 14 acquired the disease in West Africa. Only three of the 24 had taken recommended courses of prophylaxis. Diagnosis was invariably, and often dangerously, delayed because physicians often made diagnoses of viral syndromes or used antibiotics; only one patient had a blood smear taken by a personal physician. Although all patients had fever and chills, classic malarial fever was seen in only seven patients; nausea, vomiting and diarrhea were common. Hepatomegaly and splenomegaly occurred in about half the patients. Blood smears stained in routine fashion by Wright's stain were positive in 23 of 24 patients. A normal leukocyte count was present in 19 of the 24 patients and thrombocytopenia in 16 of 23. The most frequent complications were those of central nervous system involvement. Therapy consisted mainly of chloroquine phosphate but other drugs, including quinine, pyrimethamine, sulfonamides and primaquine, were used in special situations. Suggestions for prophylaxis, diagnosis and therapy were made.
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PMID:Malaria - the mime. Recent lessons from a group of civilian travellers. 78 38

Primary benign liver tumors are rare, however, the diagnosis should be considered in young women with right upper quadrant pain and an enlarged liver, expecially if they are taking oral contraceptives. These tumors are best resected promptly because of the frequency of spontaneous rupture. In the case reported, the patient was a 29-year-old housewife, gravida 1, para 1. Diarrhea of 8 years' duration was complained of. Anticholinergic sedatives and birth control pills were being used, and tetracycline, 250 mg daily, had been taken for acne for 5 years. A tender liver mass was palpable 3 cm below the ribs. Upper GI X-rays showed a mass displacing the small bowel. Liver scan showed an enlarged right lobe. At surgery a large encapsulated tumor of the right lobe of the liver was found. Subtotal hepatic lobectomy and cholecystectomy were done. The laboratory diagnosis was vascular liver tumor, type undetermined. Photographic reproductions illustrate histologic findings. Following surgery the diarrhea ceased and the patient has remained well. Hepatic angiography, although not done in this case, is considered to be a useful diagnostic method. Percutaneous liver biposy is contraindicated due to the vascular nature of these tumors.
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PMID:Hepatic adenoma and oral contraceptive therapy. 85 Oct 22

Ninety-four children with typhoid fever presented with the primary complaints of fever, diarrhea, and vomiting. Fifty-two percent had hepatomegaly and derangements of SGOT and LDH. None developed hepatic decompensation and all had rapid clinical recovery. The abnormal liver function test served no prognostic purpose.
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PMID:Gastrointestinal phenomena in childhood typhoid fever. 94 10

A total of 240 cases of a bleeding syndrome in infants due to prothrombin complex deficiency of unknown aetiology were reviewed. The majority of patients were breast fed, aged 1-2 months and the syndrome was more prevalent in males. Clinical manifestations consisted of bleeding, pallor and mild hepatomegaly in the majority of cases. Mild fever, diarrhoea, jaundice, and upper respiratory tract infection were associated in a few patients. Acute onset, short course and a high rate of intracranial bleeding (65%), particularly subdural and subarachnoid, were observed. The haemostatic defects appeared to be a marked reduction in factor II, VII, IX, and X. Complete blood counts remained relatively normal, with the exception of some changes (anaemia, leukocytosis), in response to the acute bleeding. Liver chemistry was normal or slightly impaired. No specific pathological changes were noted at autopsy, there were mild changes of liver cells, such as rare focal necrosis of liver cells, the proliferation of Kupffer cells, extramedullary haemopoeisis and mild cholestasis. Clinical improvement and correction of hemostatic defects were noted after vitamin K therapy alone or with fresh blood transfusion. Mortality rates were high in infants with intracranial bleeding (40-55%), while the overall mortality rate was 25%. The pathogenesis and the possibility of prevention of the syndrome were discussed.
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PMID:A bleeding syndrome in infants: acquired prothrombin complex deficiency of unknown aetiology. 108 22

Lysinuric protein intolerance (LPI), an autosomal recessive defect of diamino acid transport, is characterized chemically by renal hyperdiaminoaciduria, especially lysinuria, and by impaired formation of urea with hyperammonemia after protein ingestion. Our 20 patients thrived during breast-feeding, but ingestion of cow's milk caused diarrhea and vomiting. When able to select their diet, they rejected all protein-rich foods. They were short staturated and had weak atrophic muscles, osteoporosis, hepatomegaly and often splenomegaly. Four patients were mentally retarded. Fifteen patients had leukocyte counts below 4,000/mm3, and 17 patients had platelet counts below 150,000/mm3. Serum lactate dehydrogenase activity was constantly increased, and transaminase and aldolase activities were often increased. In the infants' livers, changes were only revealed by electron microscopy: increased and vesicular smooth endoplasmic reticulum, and abundance of glycogen particles in the hepatocytes. In the older patients, light microscopy demonstrated clearly limited areas where hepatocytes had large pale cytoplasm and small pyknotic nuclei. The diamino acids lysine, arginine and ornithine had plasma concentrations only one-third to one-half the normal mean; the renal clearances were clearly increased. Oral diamino acid loading tests suggested impaired intestinal absorption. Urea is built in the liver through transformation of ornithine to arginine, and cleavage of arginine to ornithine and urea. The addition of ornithine to an intravenous I-alanine loading prevented the hyperammonemia and normalized the urea production. Therefore, the diet has been supplemented with arginine, and more protein has been added. This therapy has lead to a remarkable catch-up growth in some patients. The pathophysiology of LPI is explained. Because of defective intestinal absorption and incrased renal loss, the diamino acids have a low plasma concentration. Their transport from plasma to hepatocytes is also impaired, and the liver becomes deficient in ornithine. This retards the urea cycle, and leads to postprandial hyperammonemia and protein aversion. The presence of the transport defect in the hepatocytes distinguishes LPI from other hyperdibasicaminoacidurias.
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PMID:Lysinuric protein intolerance. 115 80

Between June and September 1990, 47 children died at Jos University Teaching Hospital, Nigeria from ingestion of paracetamol syrup adulterated with diethylene glycol. Most of the children presented with anuria, fever, vomiting, diarrhoea and convulsions. Signs on admission were tachycardia, acidotic breathing, pallor, oedema and hepatomegaly. Laboratory findings included hyperkalaemia, acidosis, elevated creatinine level and hypoglycaemia. Management consisted of correction of dehydration and acidosis plus administration of antibiotics when indicated. None of the children had dialysis. All died within 2 weeks of admission. Proper government supervision of pharmaceutical companies and their agencies is urgently needed in order to prevent any future occurrence of such tragic deaths.
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PMID:Diethylene glycol poisoning in Nigerian children. 128 36

We describe retrospectively the experience with 44 cases of AIDS from January 1987 to October 1991 at the Instituto Nacional de Pediatria, a tertiary care children hospital in Mexico City. All patients with 2 ELISA and a positive Western Blot test were included. Thirty three patients were infected perinatally (75%) and 11 through blood transfusion (25%). Fourty one patients belonged to the P2 classification of the Centers for Disease Control. Chronic diarrhea (77%), lymphadenopathy (75%), hepatomegaly/splenomegaly (70%) and oral candidiasis (61%) were the most common clinical findings. Twenty patients died (45.4%). No statistical relation were found between survival rate and the way of transmission and age at onset. Autopsy was performed in 14 patients and revealed a sharp decrease of lymphoid tissue at all levels with severe thymic atrophy.
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PMID:[AIDS in children. Experience at the National Institute of Pediatrics]. 138 80


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