Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038002 (splenomegaly)
 9,873 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Autosomal recessive polycystic kidney disease is a heritable but phenotypically variable disorder characterized by varying degrees of nonobstructive renal collecting duct ectasia, hepatic biliary duct ectasia and malformation, and fibrosis of both liver and kidneys. In the kidney, the dilated collecting ducts and interstitial fibrosis, when severe, may significantly impair renal function and result in hypertension and renal failure. Imaging typically shows large but reniform kidneys, diffusely increased renal parenchymal echogenicity at ultrasonography, and a striated nephrogram after contrast material administration. In the liver, periportal fibrosis accompanies the malformed and dilated bile ducts; this may result in portal hypertension. The liver may appear normal or may show intrahepatic biliary dilatation; once portal hypertension develops, splenomegaly and varices are usually evident. The relative degrees of kidney and liver involvement tend to be inverse: Children with severe renal disease usually have milder hepatic disease, and those with severe hepatic disease tend to evidence mild renal impairment. Presently, treatment consists of supportive management and control of hypertension. Replacement therapy for renal failure (dialysis or kidney transplantation) and control of portal hypertension (portal circulatory diversion or liver transplantation) may be necessary.
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PMID:Autosomal recessive polycystic kidney disease: radiologic-pathologic correlation. 1083 31

A term infant with hydrops fetalis presented with hypotonia, massive splenomegaly, renal failure, and severe hyperferritinemia. Multiple organ failure, myoclonus, and opisthotonus ensued and she died at 15 days of age. High rounded forehead, large open fontanel, and a small recessed chin led to initial premortem diagnosis of Zellweger syndrome, but her plasma profile of long chain fatty acid was normal. Her subsequent clinical course and findings of postmortem examinations were consistent with perinatal lethal form of Gaucher's disease (PLGD). The diagnosis was confirmed by deficiency of enzyme beta-glucocerebrosidase in white blood cells and in cultured fibroblasts. In addition to the crossover features of Zellweger phenotype, this infant exhibited a number of unusual features including, severe hyperferritinemia, rapid progression of splenomegaly, and absence of icthyosis.
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PMID:Perinatal lethal form of Gaucher's disease presenting with hemosiderosis. 1104 42

Hemophagocytic syndrome (HPS) is an uncommon reactive disorder characterized by proliferation of histiocytes that actively engulf other hematopoietic cells causing cytopenia. It complicates several diseases including hematological neoplasias. We report the case of a 54-year-old woman who was admitted to our hospital with fever of unknown origin. Her clinical picture was characterized by renal failure, splenomegaly and pancytopenia. Findings on bone marrow examination showed HPS associated with multiple myeloma. A review of the literature revealed that only one case has previously been published.
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PMID:Hemophagocytic syndrome associated with multiple myeloma. 1215 83

OBJECTIVE: To describe an often-unrecognized clinical picture of multiple organ failure in hemophagocytic lymphohistiocytic syndrome (HLS). DESIGN: Retrospective chart review. SETTING: A ten-bed pediatric intensive care unit (PICU) in a tertiary children's university hospital. PATIENTS: A total of 11 children (age, 5 months to 13 yrs) who fulfilled the criteria for the diagnosis of familial- or infectious-associated hemophagocytic lymphohistiocytosis and who required intensive care support for organ failure. INTERVENTION: None. MAIN RESULTS: During a 10-yr period, 5,439 children were hospitalized in our PICU. A total of 11 children were diagnosed as suffering with HLS. Of these 11 patients, three (27%) had the familial form and eight had the infectious-associated form. After admission to the PICU, seven patients (63%) were diagnosed as suffering with HLS and each had one or more organ failures (patients 3-7, 9, and 10). All presented with fever, hepatomegaly, and splenomegaly; in addition, all had at least two of the following: anemia, neutropenia, or thrombocytopenia. All 11 had lymphohistiocytic accumulation in bone marrow (n = 10), lymph node (n = 2), lung (n = 2), and/or liver (n = 1). Organ failure was noted most often in the respiratory system (n = 7) attributable to severe, acute respiratory distress syndrome and pleural effusion. Of the 11 patients, six had cardiovascular involvement that manifested as shock in three and as capillary leak syndrome in three. Renal failure occurred in four patients. Of these, two required hemodiafiltration and one required peritoneal dialysis. Liver failure occurred in three and central nervous system involvement and coma in three. Most of the patients required massive therapeutic intervention, including assisted ventilation (n = 6), inotropic support (n = 3), and hemofiltration (n = 3). A total of seven patients (63%) died. CONCLUSIONS: Hemophagocytic lymphohistiocytic syndrome in the pediatric population may have a dramatic clinical picture, with multiple organ failure as a presenting symptom or early in the disease course, mandating intensive support in the PICU.
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PMID:Hemophagocytic lymphohistiocytic syndrome: Unrecognized cause of multiple organ failure. 1281 87

The characteristic rash of systemic juvenile idiopathic arthritis is a transient erythematous eruption associated with a quotidian spiking fever. Usually asymptomatic, it can be pruritic, with dermatographism at sites of scratching or pressure. An illness similar to this entity in adults is designated adult-onset Still disease. The relationship between the pediatric and adult disease is uncertain and differences in case definition have evolved. Specifically, a sustained arthritis for at least 6 weeks is required for a diagnosis of systemic juvenile idiopathic arthritis, whereas transient arthritis and arthralgia are accepted criteria in adult-onset Still disease. We describe five patients less than 16 years of age who presented with an acute illness characterized by fever and a distinctive skin eruption. Intense pruritus and linear erythematous lesions flared with a spiking fever, usually in the late afternoon and evening. Periorbital edema/erythema and nonlinear urticarial lesions were also seen. Two children had splinter hemorrhages of the nail beds and one girl developed a fixed, scaling, pigmented, linear eruption. Severe malaise, myalgia, arthralgia, and leukocytosis were present in every patient. Other systemic manifestations included sore throat, transient arthritis, abdominal pain, lymphadenopathy, hepatomegaly, splenomegaly, hyperferritinemia, and hepatic dysfunction. No patient had a sustained arthritis. The course of the disease was variable. One patient, diagnosed with macrophage activation syndrome, recovered on oral naproxen. Two patients responded to systemic corticosteroid therapy. One girl developed status epilepticus and died from aspiration and asphyxia. A boy with severe hepatitis developed renal failure and thrombotic thrombocytopenic purpura and was treated with plasmapheresis, dialysis, and systemic corticosteroids; he had recurrent episodes of rash and fever into adult life. These children did not fulfill the case definition of systemic juvenile idiopathic arthritis because they lacked a persistent arthritis. Adolescent and adult patients with the same clinical and laboratory findings are described under the rubric of adult-onset Still disease. Recognition of the distinctive urticarial skin eruption and spiking fever is important in the diagnosis of a disease with severe morbidity and potentially life-threatening complications.
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PMID:A pruritic linear urticarial rash, fever, and systemic inflammatory disease in five adolescents: adult-onset still disease or systemic juvenile idiopathic arthritis sine arthritis? 1546 68

Total 198 episodes of Duke "definite" infective endocarditis (IE) in 192 patients observed over last 10 years were studied [141 males and 51 females, mean age 27.6+/-12.7 years (range 4-68 years)]. Majorities of patients (76.5%) were below 40 years of age. Rheumatic heart disease (RHD) was the commonest underlying heart disease (present in 46.9% patients). Probable source of infection could be identified in only 16.6% episodes. None of our patient was intravenous drug abuser. Fever (90.0%), anemia (81.0%), clubbing (58.1%), splenomegaly (60.6%), changing/new murmur (22.7%) were the common clinical findings. Vegetations were present in 89.9% episodes. Blood cultures were positive in 134 (67.7%) episodes (streptococci in 23.2%, staphylococci in 19.7%, gram negative in 13.6%, enterococci in 8.1%, polymicrobial and fungal in 1.5% episodes each). Complications were cardiovascular [congestive heart failure (CHF) in 41.9%, atrioventricular block in 1.5%, cardiac temponade and acute myocardial infarction in 0.5% each), neurological in 16.6%, renal in 13.1% and embolisms in total 21.7% episodes. Total 182 (91.9%) episodes in 176 patients were managed completely [(medical in 140 (76.9%) and surgical in 42 (23.1%) episodes] while patients in remaining 16 (8.1%) episodes left against medical advises before completion of therapy. Total 21% patients (37 out of 176 completely treated patients) died during therapy (cause of deaths; CHF in 11, septicemia in 10, cerebral embolism in 7, post cardiac surgery in 5, ruptured cerebral mycotic aneurysm in 2, ventricular tachycardia in 2 patients). On stepwise logistic regression analysis; cardiac abscess and CHF were independent predictors of cardiac surgery. Similarly, CHF, renal failure and prosthetic valve dysfunction were independent predictors of mortality. To conclude, spectrum of IE in our country is different from the west, but quite similar as reported from developed countries about 40 years ago. IE in our country occurs in relatively younger population with RHD as the commonest underlying heart disease. Streptococci are still the commonest responsible microorganisms. Morbidity and mortality are still high. Early cardiac surgery, whenever indicated, helps in improving outcome of these patients.
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PMID:Characteristics of infective endocarditis in a developing country-clinical profile and outcome in 192 Indian patients, 1992-2001. 1568 75

A 73-year-old woman was presented with altered mental status and disorientation. She was diabetic and hypertensive, and she had experienced an ischemic cerebrovascular accident 3 years ago. Physical examination revealed the findings of chronic obstructive pulmonary disease, cor pulmonale and congestive heart failure. Hepatomegaly, splenomegaly and ascites were found and might be associated with postsinusoidal portal hypertension secondary to congestive heart failure. Laboratory tests showed uremia, lymphocytosis and thrombocytopenia. Neurologic findings were related with uremia and hypoxia. Multiple pathologic lymphadenopathies were seen in abdominal ultrasonography and thoracic computed tomography. Bone marrow histology indicated chronic lymphocytic leukaemia (CLL). The reason for acute renal failure was leukaemic infiltration of the kidneys due to CLL that was shown with renal biopsy. Blood urea nitrogen (BUN) and serum creatinine responded well to cyclophosphamide and methyl prednisolone treatment. In CLL, direct renal involvement is frequently seen in autopsy studies especially in advanced disease, however, renal failure due to leukaemic infiltration is extremely rare.
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PMID:Acute renal failure due to leukaemic infiltration in chronic lymphocytic leukaemia: case report. 1587 23

Transaldolase (TALDO) deficiency is a newly recognized metabolic disease, which has been reported so far in 2 patients presenting with liver failure and cirrhosis. We report a new sibship of 4 infants born to the same consanguineous parents; all presented at birth or in the antenatal period with dysmorphic features, cutis laxa and hypertrichosis, hepatomegaly, splenomegaly, liver failure, hemolytic anemia, thrombocytopenia, and genitourinary malformations. The clinical courses were variable: the first child died of liver failure at 4 months of age; the second pregnancy was medically terminated at 28 weeks gestation because of hydrops fetalis with oligohydramnios. The third child is doing well at age 7 with liver fibrosis and mild kidney failure. The fourth child is now 21 months old and has hepatosplenomegaly, mild anemia, and thrombocytopenia. Urine assessment of polyols showed elevations of erythritol, arabitol, and ribitol consistent with TALDO deficiency. TALDO activity was undetectable in the patients' tissues, and mutation in the TALDO1 gene was found in the 4 patients.
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PMID:Transaldolase deficiency: a new cause of hydrops fetalis and neonatal multi-organ disease. 1709 51

Envenomation by a spotted black snake (Pseudechis guttatus), following multiple bites on the buccal mucosa of a captive maned wolf (Chrysocyon brachyurus), caused the animal's collapse, hemolysis, rhabdomyolysis, local tissue necrosis, hepatic and renal failure, and subsequent death. The wolf died despite intensive supportive care including antivenom administration, fluid support, and a blood transfusion. Gross necropsy findings included myocardial and intestinal hemorrhage, pulmonary congestion, hepatomegaly, and splenomegaly. Microscopic examination of formalin-fixed tissues demonstrated pulmonary and abdominal visceral hemorrhage, acute nephrosis with casts, multifocal hepatic necrosis, and splenic congestion.
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PMID:Spotted black snake (Pseudechis guttatus) envenomation in a maned wolf (Chrysocyon brachyurus). 1793 61

Local prevalences of individual diseases influence the prioritization of the differential diagnoses of a clinical syndrome of acute undifferentiated febrile illness (AFI). This study was conducted in order to delineate the aetiology of AFI that present to a tertiary hospital in southern India and to describe disease-specific clinical profiles. An 1-year prospective, observational study was conducted in adults (age >16 years) who presented with an undifferentiated febrile illness of duration 5-21 days, requiring hospitalization. Blood cultures, malarial parasites and febrile serology (acute and convalescent), in addition to clinical evaluations and basic investigations were performed. Comparisons were made between each disease and the other AFIs. A total of 398 AFI patients were diagnosed with: scrub typhus (47.5%); malaria (17.1%); enteric fever (8.0%); dengue (7.0%); leptospirosis (3.0%); spotted fever rickettsiosis (1.8%); Hantavirus (0.3%); alternate diagnosis (7.3%); and unclear diagnoses (8.0%). Leucocytosis, acute respiratory distress syndrome, aseptic meningitis, mild serum transaminase elevation and hypoalbuminaemia were independently associated with scrub typhus. Normal leukocyte counts, moderate to severe thrombocytopenia, renal failure, splenomegaly and hyperbilirubinaemia with mildly elevated serum transaminases were associated with malaria. Rash, overt bleeding manifestations, normal to low leukocyte counts, moderate to severe thrombocytopenia and significantly elevated hepatic transaminases were associated with dengue. Enteric fever was associated with loose stools, normal to low leukocyte counts and normal platelet counts. It is imperative to maintain a sound epidemiological database of AFIs so that evidence-based diagnostic criteria and treatment guidelines can be developed.
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PMID:Acute undifferentiated febrile illness in adult hospitalized patients: the disease spectrum and diagnostic predictors - an experience from a tertiary care hospital in South India. 2087 Jun 80


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