Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0019214 (hepatosplenomegaly)
 4,408 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This article describes the first patient with a deficiency of transaldolase (TALDO1 [E.C.2.2.1.2]). Clinically, the patient presented with liver cirrhosis and hepatosplenomegaly during early infancy. In urine and plasma, elevated concentrations of ribitol, D-arabitol, and erythritol were found. By incubating the patient's lymphoblasts and erythrocytes with ribose-5-phosphate and subsequently analyzing phosphate sugar metabolites, we discovered a deficiency of transaldolase. Sequence analysis of the transaldolase gene from this patient showed a homozygous deletion of 3 bp. This deletion results in absence of serine at position 171 of the transaldolase protein. This amino acid is invariable between species and is located in a conserved region, indicating its importance for enzyme activity. The detection of this new inborn error of pentose metabolism has implications for the diagnostic workup of liver problems of unknown etiology.
 ...
PMID:Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathway. 1128 93

This study was undertaken to assess the biochemical changes induced in chronic schistosomiasis and/or chronic HCV, as well as to pinpoint the most significant parameters which could be used as dependable indices for the differentiation of single and coupled infections with or without liver cirrhosis. The selected patients were allocated into 2 broad groups: GrII (Schistosomiasis) which was subdivided into 3 subgroups: GrII(a) schistosomal patients with hepatosplenomegaly; GrII(b) hepatosplenic schistosomal patients with decompensated liver cirrhosis; GrII(c) schistosomal patients with no organomegaly. GrIII (Combined) comprised 2 subgroups: GrIII(a) schistosomal-HCV infection with decompensated liver cirrhosis; GrIII(b) schistosomal-HCV infection without liver cirrhosis. For statistical comparison normal healthy subjects were taken as a reference group (Gr I). Results showed that schistosomal patients without organomegaly manifested non significant changes in all studied parameters compared to normal controls. Highly significant elevations in serum ALT, AST, ALP and GGT activities were recorded in all other subgroups but the highest levels are reported in GrIIb. AST/ALT and direct/indirect bilirubin ratios were highest in GrIIIa (1.17+/-0.26, 1.54 +/- 0.37, respectively). Serum total protein and albumin levels showed the highest reduction (33 and 59%) concomitantly with the highest increase in gamma-globulin level (75%) in GrIII(a). Blood total iron was significantly reduced in GrII(a,b) (15.6 and 12%) (8.8%) bilirubin, GGT and AST in this order are good discriminators between the different subgroups in GrII. On the other hand, ALT, AST, albumin, ALP, GGT, protein and direct bilirubin are the most significant indices to differentiate chronic schistosomiasis and the combined group with/or without liver cirrhosis.
 ...
PMID:Biochemical changes in patients with combined chronic schistosomiasis and viral hepatitis C infections. 1138 Nov 90

Congenital generalized lipodystrophy (CGL, Berardinelli-Seip syndrome) is a rare autosomal recessive disorder with a clinical presentation of paucity of adipose tissue, muscular hypertrophy, organomegaly, and insulin-resistant diabetes. A 4-month-old Taiwanese female infant had hepatosplenomegaly and low body weight gain despite a voracious appetite. Hypermetabolism, hyperhidrosis, loss of subcutaneous fat, muscular hypertrophy, acanthosis nigricans, hypertrichosis, and marked hypertriglyceridemia were also noted. Liver histology revealed fatty change and portal-to-portal bridging fibrosis. Clinical features, serum biochemistry, and liver histology were compatible with the diagnosis of CGL. She was given a special diet characterized by calorie restriction and partial substitution of long-chain triglycerides with medium-chain triglycerides. The serum triglyceride concentration subsequently decreased. This present case suggests that extensive fatty infiltration and subsequent cirrhosis of the liver may be the earliest complication of CGL.
 ...
PMID:Congenital generalized lipodystrophy in a 4-month-old infant. 1169 79

Niemann-Pick disease type C is an inborn error of metabolism that affects lipid degradation and storage. Hepatosplenomegaly and progressive neurological symptoms are the main clinical features. We present a case of an adult-onset type of Niemann-Pick disease in a 33-year-old woman who initially presented with dysarthria. At first, laboratory findings suggested Wilson's disease. Laparoscopy showed macroscopic signs of liver cirrhosis and histology did not confirm Wilson's disease. After bone marrow biopsy showed characteristic sea-blue histiocytes, Niemann-Pick disease was suspected and confirmed by filipin stain of cultured fibroblasts. Though rarely encountered, lipid storage disease should be suspected especially in younger patients with organomegaly and progressive signs of neurologic disease.
 ...
PMID:Hepatosplenomegaly and progressive neurological symptoms - Late manifestation of Niemann-Pick disease type C - a case report -. 1177 57

Liver injury is associated with parenteral nutrition therapy. Severity of injury varies from minimal and transient increases in liver-related blood tests to biliary cirrhosis and liver failure. Severe parenteral nutrition-related liver disease is usually confined to patients who have undergone massive intestinal resection. In these patients, early sepsis appears to cause initial liver injury, and recurring sepsis and inflammation, local or systemic, may result in its perpetuation and progression. Liver disease associated with parenteral nutrition is not necessarily related either to duration of parenteral nutrition or to delayed intestinal feeding. However, treatment includes enteral nutrition to promote enterohepatic circulation of bile acids and management of inflammation and sepsis, including control of intestinal bacterial overgrowth. Restriction of intravenous lipid emulsions may be important. The clinical picture of advanced liver failure related to short bowel syndrome differs from liver failure with an anatomically normal gastrointestinal tract. In the former, hyperbilirubinemia, hepatosplenomegaly, and functional hypersplenism dominate the clinical picture, and severe ascites and esophageal variceal hemorrhage are unusual. Early referral of these patients for intestinal and/or liver transplantation may provide the best chance for long-term survival.
 ...
PMID:Prevention of parenteral nutrition-associated liver disease in children. 1190 41

Acquired factor X deficiency has been described in patients with amyloidosis but acquired factor V deficiency is quite rare. We report here a case of life-threatening bleeding and acquired factor V deficiency associated with primary amyloidosis. A 50-year-old man who had no previous hemorrhagic diathesis was referred to our hospital because of recurrent epistaxis, gingival bleeding and hemospermia. The laboratory examination revealed that both the prothrombin time (PT) and the activated partial thromboplastin time (aPTT) were significantly prolonged, and factor V activities were markedly decreased to 14-39% of the normal value. Other coagulation factors such as fibrinogen, prothrombin, factor VII, factor VIII, factor IX and factor X were subnormal and normal. Transaminases were slightly elevated but serological tests of hepatitis B and hepatitis C were negative. Mild hepatosplenomegaly was noted without sign of liver cirrhosis. The PT and aPTT obtained 8 years ago when he received a cholecystectomy due to cholecystitis were both normal. Specific assays for the detection of factor V inhibitor were repeatedly performed but no factor V inhibitor was found. Furthermore, a significant recovery of the infused factor V was noted shortly after an intravenous administration of 5-10 U fresh frozen plasma, but it did not last more than 6 h. Melena, bleedings into the left shoulder and buttock, and finally mortal retroperitoneal hemorrhage developed despite repeated infusions of large amounts of fresh frozen plasma. Acquired factor V deficiency associated with primary amyloidosis was suspected but histological diagnosis was not obtained because of the severe bleeding tendency. Autopsy revealed hepatosplenomegaly and massive deposits of AL amyloid in the liver, spleen, heart and other parenchymal organs. Perivascular amyloid deposition and factor V deficiency are both thought to be the cause of the severe hemorrhagic tendency seen in this patient.
 ...
PMID:Life-threatening bleeding and acquired factor V deficiency associated with primary systemic amyloidosis. 1219 8

We report a case of systemic phaeohyphomycosis in a 13-year old girl. The clinical presentation was with fever, weight loss, cholestatic jaundice with hepatosplenomegaly and generalized lymphadenopathy. The patient was diagnosed initially as tuberculous adenitis and was on antituberculous therapy, but with worsening of symptoms. Lymph node and liver biopsy showed granuloma with fungal hyphae suggestive of phaeohyphomycosis. The patient responded to antifungal therapy. Later she developed secondary biliary cirrhosis with cholangitis due to long stricture of the common bile duct and common hepatic duct requiring biliary stenting. To the best of our knowledge, this is the first report on phaeohyphomycosis causing biliary cirrhosis in the English lilterature.
 ...
PMID:Hepatobiliary phaeohyphomycosis with secondary biliary cirrhosis. 1591 77

We report here on a case of non-Hodgkin's lymphoma in which liver involvement was the predominant clinical manifestation. A healthy 44-year-old man presented with upper abdominal pain, hepatosplenomegaly, thrombocytopenia, elevated AST, ALT and bilirubin, and marked elevation of lactate dehydrogenase and alkaline phosphatase. The abdominal CT scan showed only diffuse hepatosplenomegaly and uneven contrast enhancement of the spleen without any definite mass of the liver and spleen. US-guided aspiration biopsy of liver and the histologic examination confirmed a diagnosis of non-Hodgkin's lymphoma, the diffuse large B cell type. Bone marrow biopsy showed the infiltration of malignant lymphoma cells. PET-CT showed an increased FDG uptake of the liver, spleen and long bones. The patient was treated with combination regimen of cyclophosphamide, doxorubicin, vincristine and prednisone chemotherapy. Even in the absence of a mass lesion or lymphadenopathy, primary hepatic or hepatosplenic lymphoma should be considered in differential diagnosis of hepatitis or liver cirrhosis, especially for patients with diffuse hepatosplenomegaly and markedly elevated LDH.
 ...
PMID:[A case of primary hepatic lymphoma mimicking hepatitis]. 1617 55

Caroli's disease is a rare congenital disorder and occasional cases have been reported from Japan and other parts of Asia. It comprises of congenital dilation of the lower (segmental) intrahepatic bile duct. Cholangitis liver, cirrhosis and cholangiocarcinoma are its potential complication. A case of caroli's disease in an 8-years-old boy with bilobar involvement of liver, (specially affecting right superior lobe) presenting with intermittent abdominal pain, fever and hepatosplenomegaly is reported here.
 ...
PMID:Caroli's disease. 1656 20

Macrophage activating syndrome (MAS) is a rare hematological disorder associated with uncontrolled systemic T-cell activation. Persistent fever, fatigue and hepatosplenomegaly are frequent clinical manifestations, whereas hyperferritinemia, elevated serum lactate dehydrogenase levels and cytopenia are key criteria for the diagnosis of MAS. The nature of liver pathology in MAS has been partially elucidated but destructive biliary lesions have been rarely described. This report illustrates four cases of MAS developing marked cholestasis, leading to one case of biliary cirrhosis necessitating liver transplantation. Histologically, liver involvement was characterized in all cases by acute lobular hepatitis, marked hepatocyte apoptosis and small bile duct injury similar to the vanishing bile duct syndrome. Immuno-histological studies showed that the inflammatory changes and bile duct lesions were dominated by the presence of activated macrophages and T-cells, in particular CD8+ lymphocytes, and in part NK-cells. These findings suggest that in MAS, various T-cell triggers such as infection, autoimmune disease and malignancy might result in the release of cytokines, which in turn activate macrophages to trigger a systemic acute phase response and local tissue damage. This communication suggests that a macrophage, T- and NK-cell network is operational in the pathogenesis of the cholangiocyte, hepatocyte and sinus endothelial cell damage in MAS.
 ...
PMID:Macrophage activating syndrome is associated with lobular hepatitis and severe bile duct injury with cholestasis. 1661 13


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>