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 56-year-old man with diffuse cutaneous xanthomatosis had neither mucosal lesions nor diabetes insipidus. Cutaneous lesions were characterised by dermal histiocytic infiltration, without X bodies, associated with Touton's cells and abundant iron deposits. Plasma lipid levels were normal. A lambda G monoclonal dysglobulinemia was present without Bence-Jones proteinuria or myeloma, except for a moderate increase in medullary plasmocytic cell elements. The diagnosis of disseminated xanthomatosis was established, the differential diagnosis from other histiocytic proliferations, particularly diffuse plane xanthoma, being sometimes difficult. The relation between normolipaemic xanthomatosis and dysglobulinemia certainly exists, but no satisfactory pathogenic explanation was possible in this case, in the absence of cryoglobulin, paraprotein antilipoprotein activity, and cutaneous deposits of lipoprotein-paraprotein complexes.
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PMID:[Diffuse normolipemic xanthomatosis and IgG monoclonal dysglobulinemia]. 718 Dec 45

A 45-year-old male was admitted because of chest pain, lumbago, and bilateral ankle pain. Examination disclosed hypophosphatemic osteomalacia, acquired Fanconi syndrome, and abnormalities in distal nephron such as distal renal tubular acidosis and renal diabetes insipidus. Further exploration revealed IgA kappa multiple myeloma excreting urinary Bence Jones protein (kappa-light chain). Renal biopsy revealed thick basement membranes and elec-tron-dense crystals in proximal tubular epithelial cells. Immunofluorescent studies revealed deposition of kappa-light chain in renal tubular epithelial cells that caused the renal tubular damage. Although the osteomalacia was relieved by medical treatment, the urinary Bence Jones protein and the renal tubular defects were not improved by the chemotherapy for the myeloma. The patient died of exacerbation of multiple myeloma at 50 years of age.
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PMID:IgA-kappa type multiple myeloma affecting proximal and distal renal tubules. 1157 59

We describe two patients with multiple myeloma (MM) involving the central nervous system (CNS). In both patients, CNS involvement was manifested with extremely rare signs and symptoms. The first patient, a 64-year-old woman, developed obstructive hydrocephalus 10 years after the initial diagnosis of MM. The disease has been successfully treated with intrathecal chemotherapy, radiotherapy and systemic chemotherapy. The other patient, a 65-year-old man, developed hypopituitarism and diabetes insipidus 1 year after MM diagnosis. Disease in this patient proved resistant to both radiotherapy and chemotherapy; the patient died 2 years later. These rare complications add new information on the wide spectrum of clinical and laboratory manifestations of MM. It is obvious that descriptions of additional cases are required to better understand the mechanisms of CNS involvement in MM patients.
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PMID:Multiple myeloma involving the central nervous system: a report of two cases with unusual manifestations. 1601 12

Fanconi's syndrome is a complex of multiple tubular dysfunctions of proximal tubular cells occurring alone or in association with a variety of inherited (primary) or acquired (secondary) disorders. It is characterized by aminoaciduria, normoglycaemic glycosuria, tubular proteinuria without hematuria, metabolic acidosis without anion gap and excessive urinary excretion of phosphorous, calcium, uric acid, bicarbonate, sodium, potassium, and magnesium. Whereas diabetes insipidus is a disease of collecting tubules and child mainly presents with dehydration and hypernatremia. Though all the cases published till date were secondary to drugs, myeloma, hematological disorders, etc., we are reporting the first case of idiopathic Fanconi's syndrome along with nephrogenic diabetes insipidus in a child who presented to us as resistant rickets. Medline search did not reveal any case of nephrogenic diabetes insipidus associated with idiopathic Fanconi syndrome. We hypothesized that the NDI may be due to of severe hypokalemia induced tubular dysfunction.
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PMID:Nephrogenic diabetes insipidus with idiopathic Fanconi's syndrome in a child who presented as vitamin D resistant rickets. 2202 6

Multiple myeloma is a rare malignancy that exhibits a wide range of possible clinical presentations. In recent years, with the advent of stem cell transplantation, the prognosis of patients with multiple myeloma has been increasing. We searched the literature for reports of atypical myeloma presentations to aid clinicians in formulating differential diagnoses and to increase the number of cases diagnosed early. There have been a number of reports of early ocular symptoms, including, but not limited to, proptosis, optic neuropathy, vision loss, retinal hemorrhage, and detachment. Neurological presentations included cranial nerve palsies, vertigo related to cerebellar involvement, and diabetes insipidus related to pituitary involvement. Among gastrointestinal manifestations, there are a number of reports of multiple myeloma presenting as acute and chronic pancreatitis. Mesenteric ischemia due to amyloidosis, acute abdomen, and hepatosplenomegaly were also among reported presentations. When it comes to renal involvement, while acute renal failure and proteinuria are typical, there are reports of patients presenting with both nephritic and nephrotic forms of glomerular disease, as well as end-stage renal disease requiring dialysis. We believe that it is essential for clinicians to keep reporting atypical multiple myeloma presentations and consider it as a possible diagnosis in a patient with serious, atypical symptoms.
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PMID:Uncommon Presentations of Multiple Myeloma. 3263 79