Light chain deposition disease

Česká verzia

Authors: V. Ščudla; J. Minařík; T. Pika
Authors place of work: III. interní nefrologická, revmatologická a endokrinologická klinika Lékařské fakulty UP a FN Olomouc, přednosta prof. MUDr. Vlastimil Ščudla, CSc.
Published in the journal: Vnitř Lék 2012; 58(1): 38-43
Category: Reviews

Summary

The aim of the study is to put forward the recent knowledge about a relatively rare clinical condition caused by the deposition of immunoglobulin light chains κ or λ into the parenchyme of kidneys and other vital organs, leading to a progressive loss of their function with terminal organ failure. The paper focuses on the etiopathogenesis of light chain deposition disease, and the differentiation of idiopatic form of the disease from multiple myeloma associated conditions and other B lymphoproliferative disorders. We concentrate on the issue of clinical manifestation, contemporary diagnostic possibilities and differential diagnosis of the disease. Finally, we summarize recent therapeutic approaches using chemo-immunotherapy (bortezomib) and high-dosed chemotherapy with support of autologous peripheral stem cell transplantation that lead to a substantial improvement of the prognosis of this prognostically unfavorable disorder.

Key words:
light chain deposition disease – light chain κ/λ index – bortezomib – autologous stem cell transplantation

Zdroje

1. Ronco P, Plaisier E, Mougenot B et al. Immunoglobulin light (heavy)-chain deposition disease: from molecular medicine to pathophysiology-driven therapy. Clin J Am Soc Nephrol 2006; 1: 1342–1350.

2. Pozzi C, D’Amico M, Fogazzi GB et al. Light chain deposition disease with renal involvement: clinical characteristics and prognostic factors. Am J Kidney Dis 2003; 42: 1154–1163.

3. Gallo G, Picken M, Buxbaum J et al. The spectrum of monoclonal immunoglobulin deposition disease associated with immunocytic dyscrasias. Semin Hematol 1989; 26: 234–245.

4. Buxbaum JN, Chuba JV, Hellman GC et al. Monoclonal immunoglobulin deposition disease: light chain and light and heavy chain deposition diseases and their relation to light chain amyloidosis. Ann Intern Med 1990; 112: 455–464.

5. Buxbaum J. Mechanisms of disease: monoclonal immunoglobulin deposition. Amyloidosis, light chain deposition disease, and light and heavy chain deposition disease. Hematol Oncol Clin North Am 1992; 6: 323–346.

6. Dhodapkar MV, Merlini G, Solomon A. Biology and therapy of immunoglobulin deposition diseases. Hematol Oncol Clin North Am 1997; 11: 89–110.

7. Cohen AH. The kidney in plasma cell dyscrasias: Bence-Jones cast nephropathy and light chain deposit disease. Am J Kidney Dis 1998; 32: 529–532.

8. Kastritis E, Migkou M, Gavriatopoulou M et al. Treatment of light chain deposition disease with bortezomib and dexamethasone. Haematologica 2009; 94: 300–302.

9. Pozzi C, Fogazzi GB, Banfi G et al. Renal disease and patient survival in light chain deposition disease. Clin Nephrol 1995; 43: 281–287.

10. Solomon A, Weiss DT, Herrera GA. Light chain deposition disease. In: Mehta J, Singhal S (eds). Myeloma. London: Martin Dunitz Ltd 2002: 507–518.

11. Antonovych T, Line C, Parrish E et al. Light chain deposits in multiple myeloma. Lab Invest 1974; 30: 730A.

12. Randall RE, Williamson WC Jr, Mullinax F et al. Manifestation of systemic light chain deposition. Am J Med 1976; 60: 293–299.

13. Mallick NP, Dosa S, Acheson EJ et al. Detection, significance and treatment of paraprotein in patients presenting with „idiopathic“ proteinuria without myeloma. Q J Med 1978; 47: 145–175.

14. Herrera GA, Joseph L, Gu X et al. Renal pathologic spectrum in an autopsy series of patients with plasma cell dyscrasia. Arch Pathol Lab Med 2004; 128: 875–879.

15. Jayamohan Y, Sacher RA, Fanning SR et al. Light-chain deposition disease. Available from: www.medicine.medscape.com.

16. Sanders PW, Herrera GA, Chen A et al. Differential nephrotoxicity of low molecular weight proteins including Bence Jones proteins in the perfused rat nephron in vivo. J Clin Invest 1988; 82: 2086–2096.

17. Merta M, Rysava R, Zabka J et al. Kidney involvement in light-chain deposition disease. Sb Lek 2002; 103: 397–403.

18. Wohl P, Chadimová M, Engliš M et al. Nemoc z ukládání lehkých řetězců jako příčina renálního selhání. Čas Lék Česk 1998; 137: 721–724.

19. Lorenz EC, Gertz MA, Fervenza FC et al. Long-term outcome of autologous stem cell transplantation in light chain deposition disease. Nephrol Dial Transplant 2008; 23: 2052–2057.

20. Firkin F, Hill PA, Dwyer K et al. Reversal of dialysis-dependent renal failure in light-chain deposition disease by autologous peripheral blood stem cell transplantation. Am J Kidney Dis 2004; 44: 551–555.

21. Peng SK, French WJ, Cohen AH et al. Light chain cardiomyopathy associated with small-vessel disease. Arch Pathol Lab Med 1988; 112: 844–846.

22. Samanez C, Domingo A, Cibeira MT. Development of rapidly progressive liver light chain deposition disease under VAD chemotherapy in multiple myeloma. Eur J Haematol 2006; 76: 83–85.

23. Bhargava P, Rushin JM, Rusnock EJ et al. Pulmonary light chain deposition disease: report of five cases and review of the literature. Am J Surg Pathol 2007; 31: 267–276.

24. Kijner CH, Yousem SA. 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.

25. Paueksakon P, Revelo MP, Horn RG et al. Monoclonal gammopathy: significance and possible causality in renal disease. Am J Kidney Dis 2003; 42: 87–95.

26. Adam Z, Nedbálková M, Krejčí M et al. Více než 10 let trvání kompletní remise monoklonální gamapatie nejistého významu a vymizení nefrotického syndromu vzniklého na podkladě light chain deposition disease po léčbě vinkristinem, adriamycinem a vysokými dávkami dexametazonu (VAD). Vnitř Lék 2010; 56: 240–246.

27. Okura T, Miyoshi K, Nagao T et al. Light chain deposition disease developing 15 years following the diagnosis of monoclonal gammopathy of undetermined significance. Intern Med 2009; 48: 101–104.

28. Lambotte O, Dürrbach A, Ammor M et al. Association of a POEMS syndrome and light chain deposit disease: first case report. Clin Nephrol 2001; 55: 482–486.

29. Bradwell AR, Carr-Smith HD, Mead GP et al. Highly sensitive, automated immunoassay for immunoglobulin free light chains in serum and urine. Clin Chem 2001; 47: 673–680.

30. Belloti V, Merlini G, Bucciarelli E et al. Relevance of class, molecular weight and isoelectric point in predicting human light chain amyloidogenicity. Br J Haematol 1990; 74: 65–69.

31. Batuman V, Verroust PJ, Navar GL et al. Myeloma light chains are ligands for cubilin (gp280). Am J Physiol 1998; 275 (2 Pt 2): 246–254.

32. Sanders PW, Herrera GA. Monoclonal immunoglobulin light chain-related renal diseases. Semin Nephrol 1993; 13: 324–341.

33. Waldmann TA, Strober W, Mogielnicki RP. The renal handling of low molecular weight proteins II. Disorders of serum protein catabolism in patients with tubular proteinuria, the nephrotic syndrome, or uremia. J Clin Invest 1972; 51: 2162–2174.

34. Gallo G, Goñi F, Boctor F et al. Light chain cardiomyopathy. Structural analysis of the light chain tissue deposits. Am J Pathol 1996; 148: 1397–1406.

35. Keeling J, Herrera GA. Matrix metalloproteinases and mesangial remodeling in light chain-related glomerular damage. Kidney Int 2005; 68: 1590–1603.

36. Abe M, Goto T, Kosaka M et al. Differences in kappa to lambda (κ:λ) ratios of serum and urinary free light chains. Clin Exp Immunol 1998; 111: 457–462.

37. Preud’homme JL, Aucouturier P, Touchard G et al. Monoclonal immunoglobulin deposition disease (Randall type). Relationship with structural abnormalities of immunoglobulin chains. Kidney Int 1994; 46: 965–972.

38. Lin J, Markowitz GS, Valeri AM et al. Renal monoclonal immunoglobulin deposition disease: the disease spectrum. J Am Soc Nephrol 2001; 12: 1482–1492.

39. Sanders PW, Herrera GA, Kirk KA et al. Spectrum of glomerular and tubulointerstitial renal lesions associated with monotypical immunoglobulin light chain deposition. Lab Invest 1991; 64: 527–537.

40. Noel LH, Droz D, Ganeval D et al. Renal granular monoclonal light chain deposits: morphological aspects in 11 cases. Clin Nephrol 1984; 21: 263–269.

41. Ferrario F, Rastaldi MP. Histopathological atlas of renal diseases: light chain deposition disease. J Nephrol 2005; 18: 499–502.

42. Heilman RL, Velosa JA, Holley KE et al. Long-term follow-up and response to chemotherapy in patients with light-chain deposition disease. Am J Kidney Dis 1992; 20: 34–41.

43. Alchi B, Nishi S, Iguchi S et al. Recurrent light and heavy chain deposition disease after renal transplantation. Nephrol Dial Transplant 2005; 20: 1487–1491.

44. Gu X, Herrera AG. Light chain mediated acute tubular interstitial nephritis: a poorly recognized pattern of renal disease in patients with plasma cell dyscrasia. Arch Pathol Lab Med 2006; 130: 165–169.

45. Strøm EH, Fogazzi GB, Banfi G et al. Light chain deposition disease of the kidney. Morphological aspects in 24 patients. Virchows Arch 1994; 425: 271–280.

46. Kaplan B, Vidal R, Kumar A et al. Amino-terminal identity of co-existant amyloid and non--amyloid immunoglobulin kappa light chain deposits. A human disease to study alterations of protein conformation. Clin Exp Immunol 1997; 110: 472–478.

47. Isaac J, Herrera GA. Renal biopsy as a primary diagnostic tool in plasma cell dyscrasias. Pathol Case Rev 1998; 3: 183–189.

48. Gokden N, Barlogie B, Liapis H. Morphologic heterogeneity of renal light-chain deposition disease. Ultrastruct Pathol 2008; 32: 17–24.

49. Brockhurst I, Harris KP, Chapman CS. Diagnosis and monitoring a case of light-chain deposition disease in the kidney using a new, sensitive immunoassay. Nephrol Dial Transplant 2005; 20: 1251–1253.

50. Abe M, Goto T, Kennel SJ et al. Production and immunodiagnostic applications of antihuman light chain monoclonal antibodies. Am J Clin Pathol 1993; 100: 67–74.

51. Kuypers DR, Lerut E, Claes K et al. Recurrence of light chain deposit disease after renal allograft transplantation: potential role of rituximab? Transpl Int 2007; 20: 381–385.

52. Katzmann JA, Abraham RS, Dispenzieri A et al. Diagnostic performance of quantitative kappa and lambda free light chain assays in clinical practice. Clin Chem 2005; 51: 878–881.

53. Wechalekar AD, Lachmann HJ, Goodman HJ et al. Role serum free light chains in diagnosis and monitoring response to treatment in light deposition disease. Haematologica 2005; 90: 1414a.

54. Katzmann JA, Kyle RA, Benson J et al. Screening panels for detection of monoclonal gammopathies. Clin Chem 2009; 55: 1517–1522.

55. Pozzi C, Locatelli F. The patient with insidious chronic renal failure and the patient with the nephrotic syndrome – two manifestations of a protean and not so rare disease. Nephrol Dial Transplant 1996; 11: 1876–1880.

56. Chang A, Peutz-Kootstra CJ, Richardson CA et al. Expanding the pathologic spectrum of light chain deposition disease: a rare variant with clinical follow-up of 7 years. Modern Pathol 2005; 18: 998–1004.

57. Tichý M, Hrnčíř Z, Urban P et al. Monoklonální imunoglobuliny. Klin Biochem Metabol 2004; 12: 84–87.

58. Lorenz EC, Gertz MA, Fervenza FC et al. Long-term outcome of autologous stem cell transplantation in light chain deposition disease. Nephrol Dial Transplant 2008; 23: 2052–2057.

59. San-Miguel J, Harousseau JL, Joshua D et al. Individualizing treatment of patients with myeloma in the era of novel agents. J Clin Oncol 2008; 26: 2761–2766.

60. Hájek R, Adam Z, Maisnar V et al. Souhrn doporučení 2009 „Diagnostika a léčba mnohočetného myelomu“. Transfuze Hematol dnes 2009; 15 (Suppl 2): 5–80. Available from: www.myeloma.cz.

61. Ganeval D, Noël LH, Preud’homme JL et al. Light-chain deposition disease: its relation with AL-type amyloidosis. Kidney Int 1984; 26: 1–9.

62. Weichman K, Dember LM, Prokaeva T et al. Clinical and molecular characteristics of patients with non-amyloid light chain deposition disorders, and outcome following treatment with high-dose melphalan and autologous stem cell transplantation. Bone Marrow Transplant 2006; 38: 339–343.

63. Royer B, Arnulf B, Martinez F et al. High dose chemotherapy in light chain or light and heavy chain deposition disease. Kidney Int 2004; 65: 642–648.

64. Hassoun H, Flombaum C, D’Agati VD et al. High-dose melphalan and auto-SCT in patients with monoclonal Ig deposition disease. Bone Marrow Transplant 2008; 42: 405–412.

65. Hutchinson CA. Reduction of serum free light chains predict renal recovery. Ann Hematol 2010; 89: 627–628.

66. Gerlag PG, Koene RA, Berden JH. Renal transplantation in light chain nephropathy: case report and review of the literature. Clin Nephrol 1986; 25: 101–104.

67. Leung N, Lager DJ, Gertz MA et al. Long-term outcome of renal transplantation in light-chain deposition disease. Am J Kidney Dis 2004; 43: 147–153.