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)

Several reports have documented various forms of glomerular diseases in adults with myelodysplastic syndromes (MDS), but similar reports in children are lacking. We describe two children with MDS-associated with steroid-responsive nephrotic syndrome (NS). Patient 1, who had MDS with myelofibrosis, presented also hepatosplenomegaly, pancytopenia, chronic hepatitis, moderate proteinuria, hypocomplementamia and elevated ANA titer. During initial prednisone treatment proteinuria markedly diminished and partial but transient haematological improvement occurred. Relapse subsequently occurred that was manifested by overt NS and pancytopenia. High doses of prednisolone led to remission of the renal disease but haematological remission did not occur. Persisting pancytopenia and repeated infections terminated in sepsis, two years after the onset of MDS. Patient 2, who had refractory anaemia with clonal monosomy 19, manifested bowel disease, hepatosplenomegaly, anaemia and non-organic specific autoantibodies. Prednisone led to both clinical and haematological remission. Haematologic disease relapsed 12 months later, when nephrotic-range proteinuria, haematuria and mild azotaemia were also found. Corticosteroid treatment led to long-lasting renal and haematologic remission, maintained by a small dosage of prednisone. In both patients, renal biopsy findings were consistent with those seen in idiopathic NS. A Medline search disclosed 16 cases of glomerulopathy in the course of MDS in adult patients. Clinical features included NS, usually accompanied by renal insufficiency with either acute, chronic, or rapidly progressive glomerulonephritis. On biopsy, membranous nephropathy, crescentic or mesangial proliferative glomerulonephritis and AL amyloidosis, were found. We conclude: (1) that glomerular disease may be present and should be searched for in patients with MDS; (2) that MDS can be added to the list of rare conditions associated with corticosteroid-responsive NS in children.
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PMID:[Corticoid-sensitive nephrotic syndrome in children with myelodysplastic syndromes]. 1257 74

Angioimmunoblastic lymphadenopathy with dysproteinemia (AILD) is a primary lymphoproliferative T-cell disorder, currently classified as a peripheral T-cell non-Hodgkin's lymphoma. AILD is characterized by generalized lymphadenopathy, hepatosplenomegaly, immunological abnormalities, polyclonal hypergammaglobulinemia and anemia. We report a case of AILD in an 80-year-old male who presented with a generalized pruritic maculopapular eruption and fever following doxycycline administration. The maculopapular rash progressed to formation of confluent nodules, plaques and finally erythroderma with lymphadenopathy and hepatosplenomegaly. Blood analysis revealed an elevated erythrocyte sedimentation rate and polyclonal hypergammaglobulinemia. Lymph node biopsy showed almost complete effacement of the nodal architecture with diffuse proliferation of small vessels forming an arborizing network, surrounded by atypical lymphocytes, usually CD3+ CD4+ and occasionally CD3+ CD8+. There were also larger cells (immunoblastic shape) that displayed CD20 positively, some scattered plasma cells, and eosinophils. Histology of a cutaneous lesion showed spongiosis and infiltration of the epidermis by atypical lymphocytes with large hyperchromatic nuclei, perivascular dermal lymphocytic infiltrate (CD3+) mixed with plasma cells and occasional large immunoblasts (CD20+). During hospitalization the patient developed hemolytic anemia (Coombs positive) and lung metastases. The prognosis of AILD is generally poor, with a median survival of less than 20 months. Our patient died two and a half months after the diagnosis was made due to sepsis caused by Staphylococcus aureus isolated in hemoculture.
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PMID:Angioimmunoblastic lymphadenopathy with dysproteinemia following doxycycline administration. 1272 71

A 41-year-old man presented with unexplained bleeding from the right tonsil. He subsequently developed periodic fever, cervical lymphadenopathy and hepatosplenomegaly. Despite extensive bacteriological, serological and radiographic investigations for infectious disease, rheumatic disease and malignancy no diagnosis was made. Although the fever pattern was very suggestive of Pel-Ebstein fever--commonly associated with lymphoproliferative disease--multiple biopsies of lymph nodes, bone marrow, tonsils and liver all proved negative. Empirical glucocorticoid therapy gave some temporary improvement lasting for a month. Splenectomy or splenic biopsy was not carried out because of the risk of excessive bleeding. Eventually the patient died of multi-organ failure and sepsis. At autopsy, a T-cell lymphoma with an unusual phenotype and focal involvement of bone marrow, liver and spleen was found. Clinicians are sometimes faced with the dilemma of whether to perform multiple, invasive and possibly harmful diagnostic tests or to start empirical therapy. Empirical therapy may only be started if the diagnosis has been made on strong clinical grounds and, if this is not the case, only after further diagnostic tests. The question of whether a potentially harmful diagnostic test is justified depends on the clinical course, the sensitivity and specificity of the test and the therapeutic possibilities.
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PMID:[Clinical reasoning and decision making in practice. A 41-year old with periodic fever of unknown origin]. 1469 61

Severe systemic manifestations of adult onset Still's disease (AOSD) are often fatal and occasionally related to hemophagocytic syndrome (HS). We describe the case of a 49-yr-old woman with AOSD presenting with non-remitting high fever, confusion, jaundice, hepatosplenomegaly, serositis, azotemia, pancytopenia, coagulopathy with disseminated intravascular coagulation (DIC), hyperferritinemia, acute acalculous cholecystitis and ileocolitis noted in computed tomographic images. The patient had a history of herpes zoster developed prior to the admission, but there is no history of diarrhea or abdominal pain. Although bone marrow examination was not performed due to hemorrhagic diathesis, we suspected AOSD-associated HS on the basis of clinical course without detectable infectious agents in cultures or serologic studies. Intravenous immunoglobulin, pulse methylprednisolone, oral cyclosporine A (CsA) and ceftriaxone brought about transient improvement of fever and confusion, but the disease progressed. After increasing CsA dose, all previously mentioned abnormalities disappeared rapidly. Accordingly, we believe that DIC and multiple organ dysfunctions might have been the complications of HS but not that of sepsis, and that CsA can be used as a first-line therapy in case of life-threatening situations.
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PMID:Adult-onset Still's disease with disseminated intravascular coagulation and multiple organ dysfunctions dramatically treated with cyclosporine A. 1496 57

Pentostatin is a purine nucleoside analog with demonstrated activity in low-grade lymphoid malignancies. The purpose of this study was to determine the dose of pentostatin (dCF) that could be combined with chlorambucil and prednisone to treat chronic lymphocytic leukemia (CLL), evaluate the toxicity of the resulting regimen and to estimate its efficacy. This was a multi-institutional Eastern Cooperative Oncology Group (ECOG) phase I-II study. Individuals with active B-CLL were eligible if they had no prior treatment or were in sensitive first relapse, provided they had normal renal and hepatic function. Pentostatin was evaluated in combination with orally administered chlorambucil 30 mg/m2 and prednisone 80 mg/day, 1-5 of each 14-day cycle. The pentostatin dose was 2 mg/m2 IV, day 1 for the first 6 patients; 3 mg/m2 IV, day 1 for the next 6 patients; and 4 mg/m2 IV, day 1 for the last set of 6 patients. Fifty-five patients were entered. Because of increasing toxicity with no apparent improvement in clinical efficacy on escalation of the pentostatin dose, 2 mg/m2 was chosen as the phase II dose, and 43 patients were treated at this level. Thirty-nine of these patients were eligible, of which 38 were evaluable for response, 36 of these 38 had no prior treatment. Complete response (CR) manifested by normal bone marrow morphology, peripheral blood counts and resolution of any lymphadenopathy or hepatosplenomegaly occurred in 17 patients (45%). The overall objective response rate was 87%. The median response duration was 33 months and the median survival 5 years. The median time to treatment failure is 32 months. Severe (Grade 3+) infections were seen in 31% of patients and included bacterial pneumonia (n = 4), Pneumocystis pneumonia (n = 1), fungal pneumonia (n = 2), urinary tract infection with sepsis (n = 1) and Herpes Zoster (n = 5). Overall, 11 patients had H. Zoster while on study. Due to toxicity, 33% of patients stopped therapy. Pentostatin, chlorambucil and prednisone is a highly active regimen in CLL but cannot be recommended in present form because of an unacceptable incidence of opportunistic infections. These findings add to other recent reports which suggest combination therapy with pentostatin and alkylators are active in B-CLL. However, these combination chemotherapies will need to be combined with appropriate addition of anti-bacterial and anti-viral prophylaxis to reduce infection risk for B-CLL patients.
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PMID:Pentostatin, chlorambucil and prednisone therapy for B-chronic lymphocytic leukemia: a phase I/II study by the Eastern Cooperative Oncology Group study E1488. 1506 Dec 1

A 20 day old male infant presented with fever, respiratory distress and poor feeding for 7 days. He was referred from a community hospital and diagnosed as sepsis. Physical examination revealed hepatosplenomegaly. A chest radiograph showed miliary infiltration of both lungs. Smear of gastric washing for AFB was positive. Congenital tuberculosis was diagnosed, the infant was successfully treated with antituberculous drugs and followed up monthly for 1 year. He had good health and normal development after the illness.
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PMID:Congenital tuberculosis presenting as sepsis syndrome. 1522 32

Chronic granulomatous disease (CGD) is a rare immunodeficiency disorder. The inability of phagocytic cells to kill catalase-positive organisms, such as Staphylococcus and Aspergillus species, causes recurrent infections, persistent inflammation, and granuloma formation. The imaging findings in nine cases of CGD were studied. Recurrent pulmonary infection was the most common abnormality (seven cases). Its complications included pulmonary abscesses, bronchiectasis, mediastinal abscesses, osteomyelitis, sepsis, and brain abscesses. Suppurative cervical adenitis was the second most common abnormality (four cases) and was also the presenting abnormality in the youngest patient (aged 31 days). Abdominal manifestations included hepatosplenomegaly, recurrent hepatic and splenic abscesses, necrotic mesenteric adenopathy, and gastric outlet obstruction. Osteomyelitis occurred in two cases secondary to hematogenous spread or spread of contiguous infection from the lung. Persistent infections led to formation of chronic inflammatory masses and granulomas in five cases. With improvements in therapy, the prognosis of CGD patients has improved and the general consensus is that most patients will survive into adulthood. Hence, radiologists are more likely to encounter the complications of CGD and should familiarize themselves with the spectrum of imaging findings.
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PMID:Imaging of chronic granulomatous disease in children. 1616 Jan 5

The case of a man with diagnosis of Kikuchi-Fujimoto disease (KFD) and catastrophic antiphospholipid syndrome (CAPS) is reported. He presented prolonged fever, lymphadenopathies, arthralgia, weight loss, hepatosplenomegaly and positive IgM for cytomegalovirus. While he was empirically treated with tuberculostatic drugs, he suddenly developed systemic inflammatory response syndrome, multiple organ failure and distal necrosis. On suspicion of severe sepsis, antibiotics, corticoids and recombinant human activated protein C (XIGRIS) were administrated. Exhaustive laboratory searching was negative. Histopathologic examinations of lymph node first disclosed malignant lymphoma but later KFD was confirmed. One month later, laboratory tests showed the presence of antiphospholipid antibodies (aPL). The patient was discharged after two months of hospitalization. This case exhibits a KFD complicated by definite CAPS. Cytomegalovirus could be involved in the development of both CAPS and KFD. Because of the severity of the case, we believe that XIGRIS noticeable improved the altered coagulation profile associated with CAPS.
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PMID:Catastrophic antiphospholipid syndrome and Kikuchi-Fujimoto disease: the first case reported. 1642 78

Macrophage activation syndrome is a rare and potentially fatal complication of many childhood pathological settings, most frequently reported in systemic onset-juvenile idiopathic arthritis. The disruption of the macrophage-lymphocyte interaction leads to uncontrolled proliferation of highly activated macrophages and T lymphocytes. The syndrome comprises a heterogeneous group of disorders featuring sepsis-like characteristics typically combined with impaired function of natural killer cells and cytotoxic T-cells, haemophagocytosis and hypercytokinemia, often resulting in fatal multiple organ failure. The clinical picture shows high grade fever, hepatosplenomegaly, pancytopenia, lymphoadenopathy, central nervous system involvement and consumptive coagulopathy. Macrophage activation syndrome is associated with high mortality: even though diagnostic criteria have been proposed, definite diagnosis can be a challenge for clinicians, especially in early phases. There is no standardized therapeutic protocol for macrophage activation syndrome, but it is widely recognized that aggressive treatment strategies might strongly influence prognosis. First line-therapy is usually represented by parenteral administration of high dose-corticosteroids, whilst cyclosporine is added in the steroid-resistant cases. In this paper we provide clinical clues and summarize the most recent studies about pathophysiology and management suggestions for macrophage activation syndrome.
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PMID:The clinical spectrum and treatment options of macrophage activation syndrome in the pediatric age. 1670 49

Reactive hemophagocytic syndrome (HS) occurs mainly in the setting of serious infections and lymphomas. HS can occur in the course of 2 active systemic diseases, without simultaneous infection: adult Still disease and systemic lupus erythematosus (SLE). Observations of specific lupus-associated HS are rare, and the long-term outcome of these patients with active SLE is unknown. We retrospectively studied 15 episodes of SLE-associated HS in 12 patients (10 women, 2 men) and noted the long-term outcome. HS occurred at a mean age of 25 years. All patients were febrile with >or=2 cytopenias, and bone marrow aspiration indicated hemophagocytosis. HS revealed SLE in 9 patients and recurred in 3. The main features of SLE-associated HS were a low frequency of hepatosplenomegaly, a high frequency of heart involvement (5 pericarditis, 4 myocarditis requiring transfer to intensive care unit), and a low C-reactive protein level (mean, 15 mg/L). Cutaneous-mucous symptoms of SLE, arthritis, and nephritis were present respectively in 8 (53%), 6 (40%), and 4 (27%) episodes, but symptoms of SLE were absent in 4 episodes at admission. All patients had anti-nuclear antibodies when the HS occurred. Anti-double-stranded DNA antibodies were present in 12 episodes. Treatment was steroids in 14 cases but cyclophosphamide was the only treatment able to control HS in 2 cases. All the cases of SLE-associated HS were controlled by the immunosuppressive regimen. Intravenous immunoglobulins seemed poorly effective. No infectious agent was found. Clinical presentations of the 23 patients with SLE-associated HS described in the literature were reviewed and were similar to those of the current series. The mean follow-up was 88 months (range, 7-240 mo). One patient died at 15 months (sepsis). Among the 5 patients with a follow-up >8 years, 4 always had active disease. During the follow-up of SLE, immunosuppressive drugs were added in 8 patients (cyclophosphamide in 7, azathioprine in 3, mycophenolate mofetil in 2) with significant adverse drug reactions. In the long-term, SLE-associated HS seems to define a severe SLE form with frequent flares, possible HS recurrences, and the need for prolonged immunosuppression.
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PMID:Characteristics and long-term outcome of 15 episodes of systemic lupus erythematosus-associated hemophagocytic syndrome. 1672 Dec 59


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