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)

A 83-year-old man was diagnosed with primary myelofibrosis based on the presence of leukoerythroblastosis, splenomegaly, chromosome 46 XY, a dry tap bone marrow aspiration and fibrosis on bone marrow biopsy, when he was admitted for herpes zoster in June 1987. He was admitted for a second time with multiple subcutaneous tumors over his entire body in July, 1989. He had mild splenomegaly, but no hepatomegaly nor lymphadenopathy. Laboratory tests were as follows: RBC 214 x 10(4)/microliters, Hb 5.1 g/dl, Ht 17.7%, WBC 3,200/microliters with leukoerythroblastosis, platelets 11.6 x 10(4)/microliters, s-lysozyme 251 micrograms/ml, u-lysozyme 770 micrograms/ml, NAP ratio 98%, score 278. Bone marrow aspiration resulted in a dry tap. Bone marrow biopsy showed marked fibrosis. Histologic examination of subcutaneous tumor biopsy specimens revealed a diffuse infiltration of monocytes with flexuous nuclei. These cells were positive for alpha-naphtyl butyrate esterase stain, and negative for peroxidase, alpha-naphtol ASD chloroacetate esterase stain and platelet glycoprotein IIb/IIIa stain (APAAP). Ultrastructurally, these cells were mostly monocytes and promonocytes, while phenotypically, CD11b, CD13, CD14, CD33 and HLA-DR were positive. These date indicated that the subcutaneous tumors originated from monocytes.
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PMID:[Primary myelofibrosis transforming into multiple subcutaneous monoblastoma--a case report]. 175 57

Primary myelofibrosis (PMF) is regarded as a chronic myeloproliferative disorder. It is characterized by marrow fibrosis, leukoerythroblastosis, tear drop erythrocytes and extramedullary hematopoiesis. Most patients are in their late 50s when first diagnosed. Pediatric PMF is said to be quite rare. Here describe a female infant with PMF. The patient was born on Aug. 7, 1991. The pregnancy and delivery were uneventful. Hepatomegaly was noted soon after birth. Combined blood counts showed polycythemia and leukocytosis. It was thought to be extramedullary hematopoiesis due to intrauterine infection. She was followed up in another hospital, but since her condition was unchanged she was admitted to our hospital for further medical examinations at age 7 months. On the peripheral blood smear, there were tear drop erythrocytes, normoblasts and early myeloid elements. Repeated bone marrow aspirations were dry taps. This case presented the classical findings of fibrosis of the bone marrow on bone marrow biopsy. She is in good health without any therapy until now. A review of 7 cases of PMF, including our case, in Japanese children was made and discussed in comparison to adult cases.
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PMID:[Primary myelofibrosis in an infant--a case report and review of the literature]. 823 Jul 48

Idiopathic myelofibrosis is characterized by bone marrow fibrosis, anemia, leukoerythroblastosis, and extramedullary hematopoiesis in many organs. Renal abnormalities in idiopathic myelofibrosis have been rarely described in the literature and include extramedullary hematopoiesis in the pararenal or retroperitoneal areas resulting in obstructive uropathy and hemtopoietic cell infiltration in tubulointerstitial area and urolithiasis. These lead to azotemia or acute renal failure, which may respond well to radiotherapy and adjuvant chemotherapy. To our knowledge, there has been only one case report of nephrotic syndrome associated with glomerulonephritis in a myelofibrosis patient; however, no effective treatment was described. Herein, we report the case of a patient with idiopathic myelofibrosis who initially presented with hepatomegaly, anemia, and leukoerythroblastosis. A nephrotic syndrome developed 7 years after initial diagnosis. Renal biopsy disclosed the unique pathological finding of simultaneous mesangial proliferative glomerulonephritis, renal extramedullary hematopoiesis, and gouty nephropathy. Despite treatment with busulfan, proteinuria persisted that implied irreversible glomerular injury and a terminal prognosis. We focus on the unusual pathological finding and the association between nephrotic syndrome and idiopathic myelofibrosis.
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PMID:Idiopathic myelofibrosis associated with renal extramedullary hematopoiesis and nephrotic syndrome: case report. 1564 Dec 21

Bone marrow abnormalities in SLE are now becoming increasingly recognized, suggesting that the bone marrow may also be an important site of target organ damage. In this study, we present a rare case of concurrent autoimmune hemophagocytic syndrome and autoimmune myelofibrosis, potentially life-threatening conditions, in a newly diagnosed SLE patient. We report a case of a 30-year-old Filipino woman who presented with a one-year history of fever, constitutional symptoms, exertional dyspnea, joint pains, and alopecia and physical examination findings of fever, facial flushing, cervical lymphadenopathies, and knee joint effusions. Laboratory workup revealed pancytopenia with leukoerythroblastosis, elevated ESR, increased serum levels of transaminases, elevated CRP and LDH, hyperferritinemia, hypertriglyceridemia, proteinuria, hepatomegaly, and positive antinuclear antibody. Bone marrow aspiration and trephine biopsy revealed hemophagocytosis and moderate myelofibrosis. The patient was diagnosed with SLE with concomitant autoimmune-associated hemophagocytic syndrome and autoimmune myelofibrosis. Treatment with high-dose corticosteroids led to dramatic clinical improvement with normalization of laboratory data and complete resolution of bone marrow hemophagocytosis and myelofibrosis. Hemophagocytosis and myelofibrosis, although uncommon, are possible initial manifestations of SLE and should be included in the differential diagnosis of cytopenias in SLE. Thorough clinical assessment and microscopic bone marrow examination and timely initiation of corticosteroid therapy are essential in the diagnosis and management of these potentially life-threatening conditions. This case emphasizes that the bone marrow is an important site of target organ damage in SLE, and evaluation of cytopenias in SLE should take this into consideration.
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PMID:Autoimmune-Associated Hemophagocytosis and Myelofibrosis in a Newly Diagnosed Lupus Patient: Case Report and Literature Review. 3072 51