STANLEY L. LEE, M.D., F.A.C.P.; FRED ROSNER, M.D., F.A.C.P.; WILLIAM RUBERMAN, M.D., F.A.C.P.; SIDNEY GLASBERG, M.D.
A patient with "heavy-chain disease" of the mu-chain variety is described. A syndrome of mu-chain disease may have been characterized in this and two previously reported cases as slowly progressive chronic lymphocytic leukemia with prominent hepatosplenomegaly, with pathologic fractures, and with apparent hypogammaglobulinemia, Bence-Jones proteinuria, and an abnormally negatively charged IgM fragment on serum immunoelectrophoresis. Evidence in this case is consistent with in vitro studies that suggest that the biochemical defect in mu-chain disease is a lack of normal coupling of light and heavy chains in the biosynthetic cells, rather than an over-production of heavy chains, as is the case in alpha and gamma heavy-chain diseases.
LEE SL, ROSNER F, RUBERMAN W, et al. Mu-Chain Disease. Ann Intern Med. 1971;75:407–414. doi: https://doi.org/10.7326/0003-4819-75-3-407
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Published: Ann Intern Med. 1971;75(3):407-414.
Hematology/Oncology, Leukemia/Lymphoma, Nephrology, Urological Disorders.
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