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

A W/SSM rat strain with symptoms of inherited galactosemia (cataracts, hepatosplenomegaly, aminoaciduria) was previously developed by selection and inbreeding of Wistar rats highly susceptible to the galactosemic effect of galactose. Decreased activity of galactose-I-phosphate uridyl transferase (Gal-I-PUT) in liver and erythrocytes is the salient biochemical feature of the strain. The crossing experiments have shown that the decrease in Gal-I-PUT activity was not required for the expression of main galactosemia symptoms. The experiments excluded low galactokinase activity and high susceptibility of glucose-6-phosphate dehydrogenase and phosphoglucomutase to galactose-I-phosphate as probable reasons of galactosemia. It was shown that increased transport of 14C-galactose to the erythrocytes was characteristic of galactosemic rat strain. The intracellular accumulation of galactose concerned with its increased transport was assumed as a major reason for the development of galactosemia symptoms in W/SSM rats. Genetic analysis has shown that lens lesions in galactosemic rats were controlled by one dominant gene. It is suggested that this gene is responsible for the enhances transport of galactose into the rat cells and its accumulation in toxic concentrations. The main galactosemic symptoms including cataracts result obviously rom the pleiotropic effect of this gene; the decreased activity of Gal-I-PUT may be a consequence of its epistatic effect.
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PMID:[Hereditary galactosemia in rats: biochemical mechanisms of the disease]. 621 94

A 2-year-old Sicilian boy was investigated because of chronic nonspherocytic hemolytic anemia (CNSHA) associated with hepatosplenomegaly. Appropriate studies revealed deficiency of glucose-6-phosphate dehydrogenase type Seattle (G6PD Seattle). In addition, bone marrow morphology, serological studies and analysis of red cell membrane proteins revealed congenital dyserythropoietic anemia (CDA) type II (or HEMPAS). Because G6PD Seattle on its own does not cause CNSHA, we believe that the clinical manifestations in this patient are essentially due to the CDA type II abnormality. However, the coexistence of these two different red cell abnormalities may affect the clinical picture specifically by making CDA type II more hemolytic than it would have been otherwise.
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PMID:Congenital dyserythropoietic anemia type II associated with G6PD Seattle in a Sicilian child. 772 48

We prospectively studied 50 Vietnamese patients with blackwater fever (BWF). All patients had fever and hemoglobinuria, 40 (80%) were jaundiced, 25 (50%) had hepatomegaly, 15 (34%) had splenomegaly, and 9 (18%) had hepatosplenomegaly. Twenty-one patients (42%) had impaired renal function, with creatinine clearances of < 50 mL/min/m2; however, only four (8%) developed oliguric renal failure, three (6%) of whom required dialysis. Forty-four patients (88%) developed anemia, which was severe (hematocrit, < 20% in 32 (64%). One patient died, representing a death rate for this once-feared disease that is considerably lower than that reported by earlier investigators. BWF was associated with quinine ingestion in 28 patients (56%), glucose-6-phosphate dehydrogenase (G6PD) deficiency in 27 (54%), and concurrent malaria infection in 16 (32%). There was no statistically significant difference in the severity of BWF associated with each of these three factors, as assessed by creatinine clearance and the hematocrit value on admission and by the number of units of blood transfused. There was considerable overlap in the occurrence of G6PD deficiency, quinine ingestion, and malaria, suggesting that these factors may interact and that it may not be justifiable to regard hemoglobinuria caused by G6PD deficiency as a separate syndrome.
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PMID:Blackwater fever in southern Vietnam: a prospective descriptive study of 50 cases. 940 15