Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026764 (multiple myeloma)
36,148 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 65-year-old woman of normal weight, hospitalized because of pleuritis, was found to have chronic renal failure (creatinine clearance 20 ml/min). Renal biopsy (light and electron-microscopy) revealed nodular glomerulosclerosis (Kimmerstiel-Wilson disease), described as a diabetes-specific renal change. Fundoscopy discovered bilateral proliferative retinopathy as seen in diabetes. But oral and intravenous glucose tolerance tests were normal, excluding a manifest diabetic metabolic disorder. No other cause of the glomerulosclerosis (such as amyloidosis or multiple myeloma) was found. The patient had been overweight for a time when younger, reversed by dieting. It is suggested that the "diabetic" changes in the kidneys and eyes without diabetes could be the result of a transitory disorder of glucose tolerance during the period of obesity.
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PMID:["Diabetic" proliferative retinopathy and nodular glomerulosclerosis without diabetes mellitus]. 319 24

Type III hyperlipidemia is a rare metabolic disorder characterized by elevated plasma concentrations of cholesterol and triglycerides. In subjects homozygous for the isoform E2 of apoprotein E, the disease becomes manifest when other factors that interfere with normal lipoprotein metabolism are present. Multiple myeloma has also been found to be associated with type III hyperlipidemia. We report a case with the typical manifestations of the disease (hyperlipidemia and palmar xanthoma) in whom the family history and blood analyses excluded pathologies potentially interfering with lipid metabolism. On electrophoresis of serum proteins, a monoclonal peak was detected. The patient was homozygous for the isoform E2 of the apoprotein E. Further blood analyses, bone marrow and roentgen examinations enabled the diagnosis of monoclonal gammopathy of undetermined origin. The association of type III hyperlipidemia with monoclonal gammopathy might be casual, although only the characterization of the antigenic determinants toward which the monoclonal antibodies are directed could be conclusive. The presence of several family members homozygous for the isoform E2, but without the clinical and biochemical characteristics of type III hyperlipidemia, and the poor response to diet and drug therapy suggest that gammopathy may play role in determining hyperlipidemia.
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PMID:[Dyslipoproteinemia and monoclonal gammopathy: a case report]. 899 66

Hypercalcemia is the most common life-threatening metabolic disorder associated with cancer, occurring in approximately 10-30% of all patients with neoplastic disease, although it occurs much less often in the pediatric setting. Hypercalcemia can emerge in hematologic malignancies, particularly multiple myeloma, as well as assorted solid tumors, primarily lung and breast cancers, and can even dominate the clinical picture in select patients. Early diagnosis and treatment with fluids and drugs that lower calcium levels in the blood can improve symptoms in a few days, ameliorate the quality of life of these patients, and avoid delays in the implementation of further anticancer treatments. Occasionally, the symptoms of hypercalcemia can appear gradually, and may be non-specific, resembling symptoms of many cancers and other comorbidities, especially in the elderly, thus resulting in an underestimated incidence of hypercalcemia in cancer patients. Of note, there is an increasing number of antineoplastic compounds that can interfere with calcium metabolism. Taking into consideration both the severity of hypercalcemia and the tumor status, health care providers should determine and apply appropriate treatment measures. We provide a comprehensive subjective synthesis of peer-reviewed evidence on the pathophysiology and treatment of hypercalcemia in cancer patients.
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PMID:Hypercalcemia in cancer patients: pathobiology and management. 1996 Apr 4

Gaucher disease is a multisystemic metabolic disorder due to a genetic deficiency of the lysosomal enzyme glucocerebrosidase, which leads to the accumulation within the lysosomes of macrophages of its natural substrate, glucosylceramide and its deacylated product glucosylsphingosine. The most prevalent form of the disease is the so-called non-neuronopathic form (type 1) characterized by anemia, thrombocytopenia, enlargement of liver and/or spleen, skeletal abnormalities. Etiology of anemia and thrombocytopenia may be multifactorial and not necessarily predicted by the degree of splenomegaly. Bleeding diathesis may not always be related to absolute platelet count but may be influenced by abnormal platelet function or coagulation factor deficiencies. A significant increased risk of severe hematological co-morbidities, including multiple myeloma and B-cell lymphoma, has been reported. Accumulation of glucosylceramide and glucosylsphingosyne in macrophages and the resulting chronic inflammation with the secretion of cytokines leading to polyclonal and monoclonal B cell proliferation up to multiple myeloma, as a continuum clonal expansion, is a key pathophysiological mechanism. Enzyme replacement therapy has been shown to be effective in reducing glucosylceramide storage burden and the deleterious effects caused by its accumulation, including hematological manifestations.
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PMID:Hematological manifestations and complications of Gaucher disease. 2656 53

Hypercalcemia of malignancy is the most common life-threatening metabolic disorder in patients with advanced stage cancers and is a sign of poor prognosis. It usually presents with markedly elevated calcium level and is severely symptomatic. It is associated with hematological malignancies, such as multiple myeloma, non-Hodgkin lymphoma, leukemias and solid cancers, particularly renal and breast carcinomas as well as squamous cell carcinomas of any organ. Several mechanisms have been implicated in the development of hypercalcemia of malignancy amongst them the osteolytic related hypercalcemia, parathyroid hormone-related peptide (PTHrP) mediated hypercalcemia, extrarenal 1,25 dixydroxyvitamin D (calcitriol) mediated hypercalcemia and parathyroid hormone (PTH) related hypercalcemia either ectopic in origin or in patients with parathyroid carcinoma. Clinical history and and physical examination could point towards the correct diagnosis confirmed by the above-mentioned biochemical mediators of hypercalcemia. Early diagnosis and treatment lowering calcium levels in the blood can improve symptoms and the quality of life of these patients and avoid delays for further antitumor therapy.
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PMID:Diagnosis, Pathophysiology and Management of Hypercalcemia in Malignancy: A Review of the Literature. 3182 72