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)

From a review of 17 cases of Fanconi syndrome with Bence Jones proteinuria and myeloma or amyloidosis, including three new cases reported here in detail, there emerges a well defined set of characteristics. In most cases, the diagnosis of Fanconi syndrome preceded the development of myeloma or amyloidosis. Myeloma preceding the development of Fanconi syndrome has not been reported. All the patients had Bence Jones proteinuria, but in some it could be detected only by electrophoresis or immunoelectrophoresis, In the seven cases in which the Bence Jones protein was typed, it was of kappa type. There were no serum protein monoclonal abnormalities. In the bone marrow and renal samples of half of the patients, crystalline cytoplasmic inclusion bodies were present in lymphoplasmacytic elements and renal tubular cells. It is proposed that patients with Fanconi syndrome and Bence Jones proteinuria have a distinct type of plasma cell disorder or variant of the monoclonal gammopathies, characterized by a slow progression of the tumor and by an early phase dominated by the metabolic complications of the renal proximal tubular dysfunction. Adult patients with Fanconi syndrome should be carefully investigated for the presence of Bence Jones protein and a plasmacytic dyscrasia should be excluded.
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PMID:Fanconi syndrome in adults. A manifestation of a latent form of myeloma. 16 83

The detection of monoclonal light chains in the urine by the Bence Jones heat test is a useful adjuvant to the diagnosis of myeloma and other related diseases. The test is particularly helpful when no serum spike is noted. Overall, it is positive in approximately half of all patients with myeloma. In order to assess the accuracy of the test, we reviewed the records of all patients with a positive heat test for Bence Jones proteinuria during a single calendar year. Myeloma accounted for 68%, but patients with amyloidosis, the adult Fanconi syndrome, and others also had positive results. One-fifth of the results were false positive in that urine protein electrophoresis showed no spike and immunoelectrophoresis, no monoclonal protein. This group consisted largely of patients with connective tissue diseases, chronic renal failure, or nonplasmacytic malignancies. We also have seen patients who had monoclonal light chains in their urine but failed to show positive results to the heat test and were thus considered false negative. Although the heat test for Bence Jones proteins is a useful clinical test, one must be aware of both false-positive and false-negative results. Electrophoresis and immunoelectrophoresis of concentrated urine are the methods of choice for detection of a monoclonal light chain in the urine.
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PMID:The clinical significance of Bence Jones proteinuria. 112 90

In this article, the acid-base disturbances encountered in hematologic diseases are discussed. Occurrence of lactic acidosis (LA) without obvious clinical tissue hypoxia has been reported in patients with leukemia and lymphoma. Most of the patients with LA had liver involvement and clinical evidence of impaired hepatic function, suggesting that both increased production and decreased lactate metabolism are necessary for the development of LA in leukemia and lymphoma. Acute tumor lysis syndrome consists of hyperuricemia, hyperpotassemia, and hyperphosphatemia with hypocalcemia following neoplastic cell lysis, particularly in lymphoproliferative disorders. In patients with multiple myeloma (MM), proximal renal tubular acidosis (Fanconi syndrome) associated with Bence Jones proteinuria has been reported. In addition, MM is one of the first conditions recognized to be associated with lower anion gap.
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PMID:[Acid-base disturbances in hematologic diseases]. 143 14

A 59-year-old woman with kappa light-chain myeloma had Fanconi's syndrome characterized by renal glycosuria, generalized aminoaciduria, bicarbonaturia and decrease of phosphorus and uric acid reabsorption. A bone marrow biopsy showed the presence of 27% of dystrophic plasma cells; the cytoplasm of these cells was intensely stained with anti-kappa light-chain monoclonal antibodies. By light microscopy, the renal biopsy revealed a tubulointerstitial nephritis without glomerular lesions and with intratubular casts. By immunofluorescence, no deposits were observed along the glomerular and tubular basement membranes, but a positivity with anti-kappa light chain was noticed in some tubular epithelia and casts. By electron microscopy, fibrils (35-nm diameter) were observed in the cytoplasm of proximal tubular cells. These fibrils were situated in vesicles (100- to 600-nm diameter) in the luminal side of tubular cells. In the basal pole of the cell, fibrils seemed to group in crystals (120- to 200-nm diameter). Only kappa light-chain protein was demonstrated in these fibrils and crystals by an immunoelectron microscopic technique. These data suggested the pathogenic role of the fibrils and crystals present in tubular epithelium in the tubular proximal syndrome.
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PMID:Fanconi's syndrome, kappa light-chain myeloma, non-amyloid fibrils and cytoplasmic crystals in renal tubular epithelium. 166 55

A 66-year-old man with kappa-light chain multiple myeloma had adult Fanconi syndrome. Renal tubular transport abnormalities consisted of renal tubular acidosis, renal glycosuria, aminoaciduria, phosphaturia and renal hypouricemia. After therapy for multiple myeloma, urinary Bence Jones protein became undetectable, and all these renal tubular abnormalities except urate wasting were corrected. Histological examination revealed electron-dense tubular and rod-like deposits in proximal tubular epithelium. This clinical observation suggests that the renal tubular transport defects were secondary to the myeloma process, possibly due to Bence Jones proteinuria.
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PMID:Adult Fanconi syndrome secondary to kappa-light chain myeloma: improvement of tubular functions after treatment for myeloma. 211 47

We report a case of Fanconi's syndrome associated with multiple myeloma, which displayed some unusual features. Although serum immunoelectrophoresis showed no spike, urine electrophoresis revealed monoclonal kappa light chain. The myeloma cells in multiple organs including bone marrow, lymph nodes, spleen, and kidneys were distended with characteristic intracytoplasmic crystals. In the kidneys, identical intracytoplasmic crystals were found in some proximal tubules, distal tubules, collecting ducts, glomerular cells (mostly parietal epithelial and endocapillary cells), and renal interstitial cells. Only monoclonal kappa light-chain protein was demonstrated in these crystals by immunofluorescence and immunoperoxidase techniques, a finding confirmed for the first time (to our knowledge) by immunoelectron microscopic study of the renal biopsy specimens.
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PMID:Cytoplasmic crystals in multiple myeloma-associated Fanconi's syndrome. A morphological study including immunoelectron microscopy. 250 Sep 24

A 57-year-old woman who had had renal amyloidosis with nephrotic syndrome for five years was found to have the Fanconi syndrome and monoclonal lambda light-chain proteinuria. The amyloidosis of this patient was of primary type on the basis of the permanganate-resistant amyloid, the presence of monoclonal light-chain proteinuria, and the absence of clinical and histologic evidence of multiple myeloma. To best of our knowledge, this is the first case report in which primary amyloidosis with monoclonal lambda light-chain proteinuria was accompanied by adult Fanconi syndrome.
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PMID:Adult Fanconi syndrome in primary amyloidosis with lambda light-chain proteinuria. 250 72

Two patients, one with myeloma (Patient 1) and the other with probable chronic lymphocytic leukemia (Patient 2), had reduced renal tubular phosphate reabsorption in the absence of hyperparathyroidism together with other features of the Fanconi syndrome, as consequences of the nephropathy associated with light-chain proteinuria. Both patients had hypophosphatemic osteomalacia, demonstrated for the first time in this condition by iliac bone histomorphometry after in vivo double tetracycline labeling, despite absence of bone pain or Looser zones. Neither patient was vitamin D-depleted, but plasma calcitriol level was normal in Patient 1 and low in Patient 2; only the latter patient had severe muscle weakness. Complete histologic correction of osteomalacia was achieved by treatment in accordance with the biochemical defects--oral phosphate therapy alone in Patient 1 and combined with calcitriol in Patient 2. Both patients are now symptom-free, five and three years after the initial diagnosis of bone disease and hematogenous malignancy. Thirteen previous instances of the same form of osteomalacia were reviewed; in most cases, the Fanconi syndrome developed before its probable cause became apparent. The Fanconi syndrome has also been reported in two cases of osteomalacia due to mesenchymal tumor, but not in osteomalacia associated with prostatic carcinoma. Light-chain nephropathy and consequent renal tubular dysfunction appears to be a third form of oncogenous osteomalacia.
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PMID:Hypophosphatemic osteomalacia and adult Fanconi syndrome due to light-chain nephropathy. Another form of oncogenous osteomalacia. 310 97

Distinctive morphological features in both the marrow infiltrate and the kidney were seen in a 52-year-old woman with kappa light chain-producing plasma cell myeloma, diagnosed on the basis of multiple osteolytic lesions, the presence of atypical plasma cells in the bone marrow, and monoclonal immunoglobulin production as demonstrated by immunoperoxidase staining on marrow sections. Large focal collections of histiocytes in the bone marrow and the renal proximal tubular epithelium had abundant glassy cytoplasm. Characteristic crystalline inclusions were seen ultrastructurally in both types of cells. It is believed that these crystalline deposits are lysosomal inclusions composed of altered kappa light chains taken up by these cells. The renal changes were entirely different from those of myeloma kidneys and were associated with proximal tubular dysfunction of adult Fanconi syndrome without distal tubule abnormality.
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PMID:Adult Fanconi syndrome in kappa light chain myeloma. 310 50

The current use of allogeneic bone marrow transplantation in various hematologic diseases is reviewed. Bone marrow transplantation (BMT) involves infusion of bone marrow from a suitable donor into a properly conditioned recipient. Most BMT is allogeneic, in which the donor is genetically dissimilar but shares some common tissue antigens with the recipient. Almost all patients undergoing allogeneic BMT must be "prepared" with high-dose cyclophosphamide to prevent graft rejection. Most patients with hematologic malignancy also receive total body irradiation to eradicate malignant cells located in areas inaccessible to the systemic circulation. Bone marrow transplantation is the treatment of choice for severe aplastic anemia. In acute myelogenous leukemia, the best results are observed in young patients undergoing BMT in first remission. In acute lymphoblastic leukemia, BMT is usually reserved for patients in second or subsequent remission. Early results are promising in patients with chronic myelogenous leukemia who receive BMT before the accelerated phase or blast crisis of this disease. Allogeneic BMT offers an opportunity for cure in some patients with relapses of Hodgkin's disease or those with certain subtypes of non-Hodgkin's lymphoma. Other diseases for which BMT has been used include severe combined immune deficiency disease, Fanconi's anemia, and multiple myeloma. Complications of BMT include graft failure or rejection, acute and chronic graft-versus-host disease, and infectious complications; late complications, such as restrictive and obstructive pulmonary disease, cataracts, sterility, and secondary malignancies, may also occur. Bone marrow transplantation has become an important treatment for many hematologic diseases, but it will probably remain a treatment reserved for only a few highly specialized centers. If morbidity and mortality caused by transplant-related complications can be reduced, BMT may be offered to older patients and those without HLA-identical sibling donors.
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PMID:Allogeneic bone marrow transplantation in the treatment of hematologic diseases. 388 73


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