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)

Chronic lymphocytic leukaemia was diagnosed in 1957 in a 29-year-old male patient who lived 31 years after that time. At the time of diagnosis he was in good general condition with the enlarged liver (4 cm) and spleen (5 cm). In peripheral blood the leukocyte count was 47 x 10(9)/1 with 80% lymphocytes (38 x 10(9)/1), Hb 106 g/1; the bone marrow showed hypercellularity with predominance of lymphocytes. Treatment with corticosteroids was during 1958-1966. In 1967 Chlorambucil was given for 3 months, in 1972 for one month, inducing normalization of leukocyte count, 5.7 x 10(9)/1 with 40-50% of lymphocytes (3 x 10(9)/1). In 1977 the bone marrow showed slight lymphocytosis (38%). Numerous infections were recorded. Splenomegaly disappeared in 1980. In 1982 macrocytic anaemia was observed. Diagnosis of pernicious anaemia was established based on megaloblastic bone marrow and positive Schilling test. Vitamin B12 treatment resulted in reticulocyte response (crisis) and normalization of haemoglobin level. In 1988 light anaemia and melena appeared. Gastroscopy revealed lesions in the fornix histologically identified as ventricular carcinoma. It can be presumed that the appearance of pernicious anaemia as an autoimmune disease is analogous to other autoimmune complications in chronic lymphocytic leukaemia (haemolytic anaemia, thrombocytopenia).
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PMID:[Chronic lymphocytic leukemia complicated by pernicious anemia during long-term remission]. 213 9

A case of chronic myelogenous leukemia (CML) of 10-year survival in described. A 44-year old male was admitted to our hospital because of general malaise, abdominal fullness and fever in February, 1977. On physical examination, giant splenomegaly and hepatomegaly were detected. Peripheral blood examination revealed leukocytosis without hiatus leukemia , normochromic macrocytic anemia and thrombocytosis. NAP rate and score were 16% and 22. Cytogenetic analysis of PB without stimulator revealed 46, XY, Ph1. Then he was diagnosed as having a typical type of Ph1-positive CML. He had been successfully treated over 9 years by intermittent administration of busulfan. However, anemia suddenly progressed in February, 1986 followed by leukopenia and thrombocytopenia. Hemorrhage was not detected by the examination. Though he had been received blood transfusion, the anemia progressed rapidly. He was died of cachexia on 4th of August, 1987. The postmortem examination revealed bone marrow aplasia with no signs of blast crisis nor myelofibrosis. Secondary hemochromatosis was seen in the liver, spleen, pancreas and some other organs.
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PMID:[Bone marrow aplasia without blast crisis in a case of CML of 10-year survival]. 279 87

Congenital dyserythropoietic anemia (CDA) type I is an inherited disorder characterized by macrocytic anemia with pathognomonic morphologic ultrastructural features of the erythroid precursors. The authors recently cloned the CDAN1 gene and identified one founder missense mutation in all of their Bedouin patients. In a previous study, the authors found that the majority of their 31 Bedouin patients had anemia and jaundice during the first month of life and required blood transfusions; some had persistent pulmonary hypertension. In the present retrospective evaluation of 70 Bedouin patients with CDA type I, the authors more than doubled the number. Forty-five (64%) patients were symptomatic in the neonatal period, 29 (65%) had hepatomegaly, 24 (53%) had early jaundice, 11 (27%) were born small for gestational age, 7 (15%) had persistent pulmonary hypertension, and 6 (13%) had direct hyperbilirubinemia and another 6 (13%) had transient thrombocytopenia. Thirty-six of the symptomatic neonates (80%) required at least one blood transfusion. These results confirm the authors' previous findings and add neonatal manifestations not previously described, particularly hyperbilirubinemia and thrombocytopenia. Early diagnosis of CDA type I may be beneficial in light of the potential efficacy of alpha-interferon in avoiding transfusions in some patients.
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PMID:A comprehensive study of the neonatal manifestations of congenital dyserythropoietic anemia type I. 1554 10

Congenital dyserythropoietic anaemia (CDA) type I is a rare blood disorder characterised by moderate to severe macrocytic anaemia and hepatomegaly, with spongy heterochromatin and inter-nuclear bridges seen in bone marrow erythroblasts. The vast majority of cases of CDA type I are caused by mutations in the CDAN1 gene. The product of CDAN1 is Codanin-1, which interacts the histone chaperone ASF1 in the cytoplasm. Codanin-1 is a negative regulator of chromatin replication, sequestering ASF1 in the cytoplasm, restraining histone deposition and thereby limiting DNA replication. The remainder of CDA-I cases are caused by mutations in the C15ORF41 gene, but very little is known about the product of this gene. Here, we report that C15ORF41 forms a tight, near-stoichiometric complex with Codanin1 in human cells, interacting with the C-terminal region of Codanin-1. We present the characterisation of the C15ORF41-Codanin-1 complex in humans in cells and in vitro, and demonstrate that Codanin-1 appears to sequester C15ORF41 in the cytoplasm as previously shown for ASF1. The findings in this study have major implications for understanding the functions of C15ORF41 and Codanin-1, and the aetiology of CDA-I.
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PMID:A complex comprising C15ORF41 and Codanin-1: the products of two genes mutated in congenital dyserythropoietic anaemia type I (CDA-I). 3223 77