Symptoma

Light Chain Disease

The presented rare form of double myeloma disease with initial renal insufficiency underscores the importance of careful observation and teamwork that can alter the course of this serious disease. [ncbi.nlm.nih.gov]

Bowman's capsule may contain a material that is identical to that present in the center of the nodules. [jasn.asnjournals.org]

Light chain deposition disease presenting as paroxysmal atrial fibrillation: a case report. J Med Case Rep. 2007. 1:187. [Medline]. Gallo G, Goñi F, Boctor F, Vidal R, Kumar A, Stevens FJ. Light chain cardiomyopathy. [emedicine.medscape.com]

The cases presented here indicate that disease progression and relapse may be associated with selective outgrowth of a specific FLC producing clone. [learningcenter.ehaweb.org]

  • Weight Gain

    Four weeks later, the patient presented with a 20-lb weight gain and generalized swelling. He had no new symptoms other than discomfort from fluid retention. The review of systems at the time was entirely negative. [cjasn.asnjournals.org]

  • Respiratory Insufficiency

    Three weeks later, she developed worsening respiratory insufficiency, ARDS, sepsis, respiratory arrest, and cardiac arrest resulting in death. [neurology.org]

    Lung involvement is particularly uncommon, but can sometimes dominate the clinical course of LCDD and lead to severe respiratory insufficiency 9. [erj.ersjournals.com]

  • Hypophonia

    Examination showed hypophonia, mild macroglossia, tongue stiffness, submandibular and submental musculature stiffness, firm sternocleidomastoids, generalized 4-extremity weakness, and bilateral thenar atrophy. [neurology.org]

  • Liver Dysfunction

    Bedossa P, Fabre M, Paraf F, Martin E, Lemaigre G: Light chain deposition disease with liver dysfunction. Human Pathol, 19: 1008–1014, 1988. CrossRef Google Scholar 25. [link.springer.com]

    Liver dysfunction can also occur, with progression to hepatic failure. Other symptoms of LCDD relate to congestive heart failure, peripheral neuropathy, and skin lesions secondary to the deposition of light chains. [emedicine.medscape.com]

  • Skin Lesion

    Peripheral neuropathy with pain, loss of sensation or an inability to control muscles can develop if the nervous system is involved, and if light chains are deposited in the skin, lesions can appear. [davita.com]

    Other symptoms of LCDD relate to congestive heart failure, peripheral neuropathy, and skin lesions secondary to the deposition of light chains. Weichman K, Dember LM, Prokaeva T, Wright DG, Quillen K, Rosenzweig M, et al. [emedicine.medscape.com]

    No sign and symptom of liver or neurological involvement was found, none the less, maculopapular skin lesions were noted in case N02 which may be the sign of cutaneous deposits as described by some authors [ 9, 13, 14 ]. [omicsonline.org]

  • Microscopic Hematuria

    hematuria, and nephrotic syndrome. [emedicine.medscape.com]

    Nephrotic syndrome is present in approximately 30% of cases, and microscopic hematuria is common. Hypertension occurs frequently and may be severe, as in this case. Renal failure develops in most cases over the course of weeks to years. [cjasn.asnjournals.org]

Extensive workup showed a faint gamma region band (SPEP); free kappa light chains (urine IFE); kappa level 4165 with kappa/lambda ratio 737.17 (serum free light chains); generalized myopathic MUAPs with fibrillations (EMG), and severe bilateral CTS (EMG [neurology.org]

On the other hand, the FLC ratio is abnormal in all patients with LCDD, 1, 6, 7 suggesting that serum FLC measurement should be performed in the diagnostic workup of adults presenting with renal disease, independent of the presence of a serum or urine [bloodjournal.org]

Laboratory Studies The laboratory workup for light-chain deposition disease (LCDD) includes the following: Routine serum chemistries to evaluate hepatic and renal function Complete blood cell (CBC) count to assess for anemia Serum and urine electrophoresis [emedicine.medscape.com]

  • Multiple Pulmonary Nodules

    In all cases there were single or multiple pulmonary nodules, in one case associated with cysts. [jcp.bmj.com]

    Kijner CM, Yousem SA: Systemic light chain deposition disease presenting as multiple pulmonary nodules. Am J Surg Pathol, 12: 405–413, 1988. PubMed CrossRef Google Scholar 20. [link.springer.com]

    Systemic light chain deposition disease presenting as multiple pulmonary nodules. A case report and review of the literature. Am J Surg Pathol 1988 ; 12 : 405 –413. View Abstract [erj.ersjournals.com]

  • Albuminuria

    Albuminuria is not correlated with the existence of NGS, at least initially, and may occur in the absence of significant glomerular lesions by light microscopy. [jasn.asnjournals.org]

    Albuminuria levels do not correlate with the presence of glomerulonephritis and can be present even without glomerulosclerosis. [10] Renal function declines rapidly as a rapidly progressive glomerulonephritis or acute tubulointerstitial nephritis. [4] [emedicine.medscape.com]

    Severe albuminuria is the rule. Nephrotic syndrome is present in approximately 30% of cases, and microscopic hematuria is common. Hypertension occurs frequently and may be severe, as in this case. [cjasn.asnjournals.org]

If others confirm our data, BD may become the preferred initial treatment for patients with LCDD. Copyright 2009 Ferrata Storti Foundation [doi.org]

The treatment continued with hemodialysis 3 times per week with chemotherapy protocol bortezomib, doxorubicin, dexamethasone. [ncbi.nlm.nih.gov]

Treatment may include chemotherapy with a drug called Bortezomib ; autologous stem cell transplantation ; immunomodulatory drugs; and/or kidney transplant. [rarediseases.info.nih.gov]

This case supports the observation of Hobbs that patients with Bence-Jones myeloma may have a poorer prognosis than those with otherwise typical IgG or IgA myeloma. [ncbi.nlm.nih.gov]

Myeloma tubulopathy lesions may be present and in this case seems to be associated with a poor prognosis. Despite its rarity, the prognosis of this disease is poor because as than half of the patients die or progress toward ESRD within 2 years. [omicsonline.org]

Although the prognosis for long term kidney health is poor, there are some studies which have shown that some patients have done relatively well. [unckidneycenter.org]

Although renal prognosis is poor, patient survival can be considerable with 70 and 37% 5-yr patient survival and renal survival, respectively ( 36 ). [jasn.asnjournals.org]

Miscellaneous diseases of uncertain etiology. In : Travis WD, Colby TV, Koss MN, Rosado-de-Christenson ML, Müller NL, King TE, eds. Non Neoplastic Disorders of the Lower Respiratory Tract. [erj.ersjournals.com]

Etiology Deletions, insertions or point mutations in the constant 1 (CH1) domain of the IgH are acquired during the process of somatic hypermutation. [atlasgeneticsoncology.org]

Etiology, Epidemiology and Pathophysiology Etiology The cause or causes of myeloma are unknown, but there is some evidence to support a number of theories of its origin, including viral, genetic, and exposure to toxic chemicals, the most notable being [cancer.ucsf.edu]

In a group of 13 patients with acute or chronic renal failure of various etiologies, including secondary amyloidosis, and end-stage renal failure on hemodialysis, FLC concentrations were increased in all patients, but the K/L FLC ratio was within the [clinchem.aaccjnls.org]

[…] represent an extramedullary manifestation of multiple myeloma while relapsing after chemotherapy. [21] LCDD can also complicate other B-cell lymphomas, such as lymphoplasmacytic lymphoma, marginal-zone lymphoma, and chronic lymphocytic lymphoma. [29] Epidemiology [emedicine.medscape.com]

1998) Epidemiology Mu HCD affects predominantly Caucasian men in their 5th -6 th decades. [atlasgeneticsoncology.org]

48-69 Spain [7] 6 2/4 37-74 Europe [2] 63 40/23 58 USA [6] 34 17/17 • MIDD : 57,4 2,12 • MIDD tubulopathy myeloma : 67,1 3,92 Senegal 3 1/2 • LCDD : 61 • LCDD tubulopathy myeloma : 47 et 69 Table 1: Monoclonal Immunoglobulin Deposition Disease (MIDD) epidemiology [omicsonline.org]

Epidemiology It is estimated that in 2017, approximately 30,280 new cases of multiple myeloma will be identified in the U.S., representing 1% of all malignancies and 10% of all hematological malignancies. [cancer.ucsf.edu]

Immunoglobulin light (heavy)-chain deposition disease: from molecular medicine to pathophysiology-driven therapy. Clin J Am Soc Nephrol. 2006 Nov. 1(6):1342-50. [Medline]. Buxbaum JN, Chuba JV, Hellman GC, Solomon A, Gallo GR. [emedicine.medscape.com]

The pathophysiology of LCDD is closely linked to the unique amino acid sequence of the pathogenic light chain. [cjasn.asnjournals.org]

Serum κ and λ light chains are elevated in Crohn’s models and using an experimental blocker prevents these bowel symptoms. [mastattack.org]

In most cases, plasmapheresis is used in combination with corticosteroids and immunosuppressive drugs to prevent production of abnormal proteins or to treat the underlying disease. [ncbi.nlm.nih.gov]

Experiments have demonstrated that SecB does not recognize leader peptides at all [ Randall 1990 ], but instead recognizes some feature of incompletely folded MBP, which vanishes in the mature MBP, and that SecB and the leader peptide each serve to prevent [cureffi.org]

Other possibilities are to prevent the secretion of TGF-β or to interfere with the TGF-β signaling pathway. [jasn.asnjournals.org]

In order to prevent further progression of his renal disease, the patient was treated with 3 cycles of VAMP chemotherapy (vincristine 0.4 mg/day for 4 days, doxorubicin 9 mg/m 2 /day for 4 days and methylprednisolone 1 g/m 2 for 5 days per cycle). [wikilite.com]