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 newborn infant presented with hepatosplenomegaly, rash, anemia, and leukocytosis at one day of age and manifested characteristic myeloid metaplasia by one mouth of life. Vitamin B12 and leukocyte alkaline phosphatase were elevated and platelet aggregation was impaired. Myelofibrosis was not present and neutrophil function was preserved. An unidentified high isoelectric point hemoglobin with unusual chromatographic and electrophoretic behaviors was found to comprise 12% of the total hemoglobin. The myeloid metaplasia and mutant hemoglobin disappeared over the subsequent months without biochemical or clinical residual. The available evidence was consistent with the mutant hemoglobin representing either a gamma chain or clonal embryonic chain variant. The inability to clarify prognostic factors in these unusual myeloproliferative syndromes suggests caution in the initiation of cytotoxic therapy.
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PMID:Transient myeloid metaplasia associated with an unusual hemoglobin in a newborn infant. 9 73

Myeloproliferative disease of childhood is frequently associated with chromosomal anomalies, usually of the C group. Clinical features are similar to those of the juvenile type of chronic myeloid leukemia. A child with this disease is described. Marked myeloid proliferation, anemia, thrombocytopenia and hepatosplenomegaly were present; leukocyte alkaline phosphatase and fetal hemoglobin were moderately elevated. Chromosome analysis of bone marrow cells revealed a mosaicism 47,XX,+21/46,XX. Down's syndrome was ruled out by the child's normal phenotype and dermatoglyphic analysis. The cytogenetic finding is probably evidence for the clonal origin of the trisomy 21 cell line.
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PMID:Myeloproliferative disease of childhood associated with a trisomy 21 clone. 11 7

Chronic neutrophilic leukemia is a rare, infrequently recognized, myeloproliferative disorder. It usually manifests as a leukemoid reaction, with mostly mature granulocytes in the peripheral blood, with rare to occasional immature forms, and sometimes with normoblasts. The clinical manifestations also include hepatosplenomegaly, elevated leukocytic alkaline phosphatase, elevated serum vitamin B12 and serum vitamin B12 binder ("R" fraction), and elevated serum uric acid. Distinction from a leukemegaly, the absence of sepsis, usually normal erythrocytic sedimentation, and the absence of fever. Leukemoid reactions may be associated with elevated serum vitamin B12 and uric acid, but the levels are usually lower than those found in chronic neutrophilic leukemia. Many patients have gouty symptoms, especially after treatment with Busulfan, and many have an unexplained hemorrhagic tendency, making major operations a risk. The authors add two cases to the 11 previously described.
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PMID:Chronic neutrophilic leukemia. Report of two cases and review of the literature. 28 88

An unusual case of chronic myelogeous leukemia (CML) is reported which was characterized by leukocytosis without a shift to the left, elevated leukocyte alkaline phosphatase, positive indirect Coombs' test, anemia and thrombocytosis, as well as the absence of hepatosplenomegaly. The diagnosis of CML was ascertained by the presence of Philadelphia chromosome with translocation of its deleted arms on the short arms on the short arms of a chromosome No. 6. The possible relationship between the chromosomal aberration and the unusual hematological and clinical features of this case is discussed.
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PMID:Chronic myelogenous leukemia with elevated leukocyte alkaline phosphatase, positive indirect Coombs' test, neutrophilic leukocytosis and unusual cytogenetical findings. 40 33

Twelve of 43 patients with chronic active hepatitis (CAH) (28%) manifested clinical and laboratory features of cholestasis. The criteria for selection of these patients included at least two of the following: chronic or recurrent pruritus, serum alkaline phosphatase levels of 300 mU./ml. and cholesterol of 300 mg./dl. or more. When compared with 31 control cases these patients were found to have a preponderance of Ashkenazi Jews of Roumanian origin, a higher prevalence of joint and thyroid involvement and higher serum Ig-M Levels. Mortality was similar in both groups but patients with cholestatic features tended to die earlier in the course of the disease. Retrospectively, it was found that they had been treated more intensively, attained complete remissions less frequently and developed cirrhosis more readily. There were no significant differences in the frequency of HBsAg and anti-HBs, the mode of onset, the frequency of hepatosplenomegaly and jaundice, the hematologic findings and the prevalence of autoantibodies. Like acute cholangiolitic viral hepatitis, CAH with cholestatic features emerges as a more serious disease than the classical form of CAH.
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PMID:Chronic active hepatitis with cholestatic features. I. A clinical and immunological study. 53 97

Stauffer's syndrome represents a paraneoplastic liver disorder associated with renal cell carcinoma and is characterized by elevation of the serum alkaline phosphatase, increased bromsulphthalein retention, hypalbuminaemia, elevation of alpha-2-globulin and hypoprothrombinaemia, as well as hepatosplenomegaly. Two cases are reported in which this syndrome was the presenting feature and operation was undertaken on the basis of suspected primary biliary tract disease. The aetiology of the typical findings of Stauffer's syndrome are discussed. As they may be the only symptoms of an otherwise occult renal cell carcinoma, their presence should guide the diagnostic efforts in the right direction. Moreover, the possibility of predicting the postoperative course by follow-up control of the liver function tests is stressed.
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PMID:[Stauffer's syndrome. Reversible hepatic dysfunction in renal cell carcinoma (author's transl)]. 63 40

Salmonella typhi or Paratyphi A was isolated from the blood in 16 out of 21 Suanese patients who had prolonged fever of one of 10 months' duration and hepatesplenic schistosomiasis. Most patients had severe anaemia. The serum alkaline phosphatase was raised in 16 patients. Bilharzial lesions were demonstrated in the liver biopsies of 10 patients. Three patients had in addition the nephrotic syndrome and moderate proteinuria was present in nine other patients. Changes of proliferative glomerulonephritis were noted in the renal biopsies of two patients with the nephrotic syndrome. Treatment with chloramphenicol cured the salmonella infection in all patients, reversed the raised alkaline phosphatase and the proteinuria, and led to a marked reduction in the size of the hepatosplenomegaly.
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PMID:Salmonellosis complicating schistosomiasis in the Sudan. 85 Feb 87

Although anemia has not been widely appreciated as a complication of primary hyperparathyroidism, 5.1% of the individuals with this disorder seen at the Massachusetts General Hospital since 1962 had a normochromic, normocytic anemia that could not be related to blood loss,a deficiency state, or uremia. The anemic group had more advanced bone disease and higher levels of serum calcium, alkaline phosphatase, and parathyroid hormone than the nonanemic group. Results of bone marrow biopsies performed in five patients showed variable degrees of myelofibrosis. However, none of the patients had hepatosplenomegaly, a myelophthisic peripheral blood smear, leukopenia, or thrombocytopenia. Removal of the abnormal parathyroid glands led to improvement or correction of the anemia.
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PMID:Anemia in primary hyperparathyroidism. 85 57

Two distinct and characteristic cases of osteopetrosis are presented. The first concerns a fourth month old baby with the malignant form of the disease, initiated since the newborn period. He was admitted because of abnormal ocular movements and probably deafness. At the physical examination he showed bilateral optic atrophy, abnormal ocular movements, hepatosplenomegaly and petechia. The diagnosis was confirmed by clinical means and radiological studies of virtually all of his skeleton. Several fractures were found. Laboratory tests showed marked anemia, trombocytopenia "tear cells", evidence of medullary erythropoiesis and myelofibrosis. An increased alkaline phosphatase was detected in serum and in granulocytes. The second case corresponds to a 26 year-old female with the benign form of the disease. She had multiple pathological fractures specially of her lower limbs, that produced severe impotence in her gait. In this case, the diagnosis is suspected on clinical basis and confirmed with the characteristic radiological findings. Some of the more distinct features of the disease are discussed, specially those concerning the genetic mode of inheritance and consanguinity, the etiopathogenic, pathophysiology, clinical, laboratory, prognosis and treatment, with particular reference to the radiological and hematologic problems related with this metabolic disorder.
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PMID:[Osteopetrosis (report of 2 cases)]. 91 41

The juvenile type of chronic myelogenous leukemia (CML) is characterized by hemorrhagic diathesis, hepatosplenomegaly, generalized enlargement of lymph nodes, reduced erythro- and thrombopoiesis, leukemic infiltration of bone marrow, and decreased activity of leukocyte alkaline phosphatase. The disorder differs from the adult type by the early manifestation of anemia and thrombocytopenia, the minor degree of leucocytosis, the failure to demonstrate the Philadelphia chromosome, and the presence of fetal markers in the patients' erythrocytes. The persistence of fetal markers in erythrocytes and the clinical manifestation in infancy and early childhood suggest that the disease is congenital in origin. The occurrence of CML of the juvenile type in an 8-year-old boy, which is reported in this paper, favors a postnatal acquisition of the disorder. The significance of hematological and cytogenetic findings and new aspects of nosological classification are discussed.
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PMID:[The "juvenile" type of chronic myelogenous leukemia (author's transl)]. 105 23


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