Randall-type heavy chain deposition disease (HCDD) is a rare disorder characterized by tissue deposition of a truncated monoclonal immunoglobulin heavy chain lacking the first constant domain. Pathophysiological mechanisms are unclear and management remains to be defined. Here we retrospectively studied 15 patients with biopsy-proven HCDD of whom 14 presented with stage 3 or higher chronic kidney disease, with nephrotic syndrome in 9. Renal lesions were characterized by nodular glomerulosclerosis, with linear peritubular and glomerular deposits of γ-heavy chain in 12 patients or α-heavy chain in 3 patients, without concurrent light chain staining. Only 2 patients had symptomatic myeloma. By serum protein electrophoresis/immunofixation, 13 patients had detectable monoclonal gammopathy. However, none of these techniques allowed detection of the nephrotoxic truncated heavy chain, which was achieved by immunoblot and/or bone marrow heavy chain sequencing in 14 of 15 patients. Serum-free kappa to lambda light chain ratio was abnormal in 11 of 11 patients so examined. Immunofluorescence studies of bone marrow plasma cells showed coexpression of the pathogenic heavy chain with light chain matching the abnormal serum-free light chain in all 3 tested patients. Heavy chain sequencing showed first constant domain deletion in 11 of 11 patients, with high isoelectric point values of the variable domain in 10 of 11 patients. All patients received chemotherapy, including bortezomib in 10 cases. Renal parameters improved in 11 patients who achieved a hematological response, as assessed by normalization of the free light chain ratio in 8 cases. Tissue deposition in HCDD relates to physicochemical peculiarities of both variable and constant heavy chain domains. Early diagnosis and treatment with bortezomib-based combinations appear important to preserve renal prognosis. Thus, monitoring of serum-free light chain is an indirect but useful method to evaluate the hematological response.

• Klíčová slova
• free light chains, glomerulosclerosis, immunoglobulin heavy chains, monoclonal gammopathy,
• MeSH
• biopsie MeSH
• bortezomib terapeutické užití   MeSH
• chronická renální insuficience farmakoterapie   imunologie   patologie   MeSH
• fluorescenční protilátková technika MeSH
• glomerulonefritida farmakoterapie   imunologie   patologie   MeSH
• imunoglobuliny - alfa-řetězce analýza   MeSH
• imunoglobuliny - gama-řetězce analýza   genetika   MeSH
• imunoglobuliny - kappa-řetězce analýza   MeSH
• imunoglobuliny - lambda-řetězce analýza   MeSH
• kombinovaná farmakoterapie MeSH
• ledviny účinky léků   imunologie   patologie   MeSH
• lidé středního věku MeSH
• lidé MeSH
• nefrotický syndrom farmakoterapie   imunologie   patologie   MeSH
• nemoc z těžkých řetězců farmakoterapie   genetika   imunologie   patologie   MeSH
• nemoci ledvin farmakoterapie   imunologie   patologie   MeSH
• paraproteinemie farmakoterapie   imunologie   MeSH
• polymerázová řetězová reakce MeSH
• retrospektivní studie MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• výsledek terapie MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• multicentrická studie MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• Francie MeSH
• Názvy látek
• bortezomib MeSH
• CHA heavy chain disease protein, human MeSH Prohlížeč
• heavy chain disease proteins, human MeSH Prohlížeč
• imunoglobuliny - alfa-řetězce MeSH
• imunoglobuliny - gama-řetězce MeSH
• imunoglobuliny - kappa-řetězce MeSH
• imunoglobuliny - lambda-řetězce MeSH

The technological development of flow cytometry (FC) together with new findings reveal the need for immunophenotyping in research of monoclonal gammopathy (MG) because of its diagnostic, prognostic and predictive significance. The aim of the European Myeloma Network (EMN) is to standardize this analytical method and implement it into routine clinical examination. Since the overall significance and application of FC are still analysed, standardisation could help obtain more clinical relevant information in terms of MG pathophysiology.

• MeSH
• CD antigeny analýza   MeSH
• imunofenotypizace MeSH
• lidé MeSH
• paraproteinemie imunologie   patologie   MeSH
• plazmatické buňky klasifikace   imunologie   MeSH
• průtoková cytometrie * metody   normy   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• přehledy MeSH
• Názvy látek
• CD antigeny MeSH

Flow cytometry is a useful tool for the analysis of plasma cells in monoclonal gammopathies. The aim of this study was to find possibilities and limits of multicolour flow cytometry in diagnostics of monoclonal gammopathy of undetermined significance (MGUS) and multiple myeloma (MM) and to identify parameters that could be used to differentiate between these two disorders. Surface markers CD38 and CD138 were used for identification of plasma cells, CD19 and CD56 further distinguished normal and abnormal plasma cells, respectively. The percentage of circulating plasma cells in peripheral blood was lower in MGUS patients then in MM (p<0,001) In bone marrow, the percentage of residual polyclonal CD19 plasma cell was higher (p<0,001) and the percentage of malignant monoclonal CD56 plasma cell was lower (p<0,001) in MGUS than in MM. In conclusion, flow cytometry is relatively quick and effective method for analysis of plasma cells thus immunophenotyping can significantly contribute to the differential diagnosis of plasma cell proliferations.

• MeSH
• antigen CD56 analýza   MeSH
• antigeny CD19 analýza   MeSH
• antigeny CD38 analýza   MeSH
• dospělí MeSH
• fenotyp MeSH
• lidé středního věku MeSH
• lidé MeSH
• mnohočetný myelom diagnóza   imunologie   MeSH
• paraproteinemie diagnóza   imunologie   MeSH
• plazmatické buňky patologie   MeSH
• prognóza MeSH
• průtoková cytometrie MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• syndekan-1 analýza   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Názvy látek
• antigen CD56 MeSH
• antigeny CD19 MeSH
• antigeny CD38 MeSH
• syndekan-1 MeSH

BACKGROUND: Dendritic cells (DCs) are highly specialized antigen-presenting cells, which can be used for immunotherapy trials. Functionally normal DCs play a critical role in the activation and potentiation of antitumor antigen-specific responses. DESIGN AND SUBJECTS: Maturation of DCs from 10 healthy donors, 14 monoclonal gammopathy of undetermined significance patients and 14 multiple myeloma patients was tested in an in vitro study. METHODS AND RESULTS: DCs were generated from adherent mononuclear precursors of peripheral blood and cultured in presence of IL-4 and GM-CSF with human CD40Ligand stimulation. Serum-free or autologous serum conditions were used and expression of significant surface antigens, chemokines receptors and production of IL-12p70, were compared. We found no difference between groups under serum-free conditions with or without CD40L stimulation. Under autologous conditions we found negative effect on patients DCs manifested by reduction of some markers. The production of IL-12p70 was low and no difference in serum IL-6 levels between individual groups was found. CONCLUSION: Under serum free conditions there was no difference between healthy volunteers, MGUS and patients, but CD40L stimulation did not lead to the full maturation ofDCs. Autologous patient serum had negative influence on DCs, with no definite dependance on the IL-6 level.

• MeSH
• antigeny povrchové metabolismus   MeSH
• dendritické buňky imunologie   MeSH
• interleukin-6 metabolismus   MeSH
• lidé středního věku MeSH
• lidé MeSH
• ligand CD40 farmakologie   MeSH
• mnohočetný myelom imunologie   MeSH
• paraproteinemie imunologie   MeSH
• receptory CCR metabolismus   MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• Publikační typ
• anglický abstrakt MeSH
• časopisecké články MeSH
• práce podpořená grantem MeSH
• srovnávací studie MeSH
• Názvy látek
• antigeny povrchové MeSH
• interleukin-6 MeSH
• ligand CD40 MeSH
• receptory CCR MeSH

We demonstrate the effect of deep brain stimulation of the ventral intermediate thalamic nucleus on intractable action tremor, in a 72-year-old man suffering from neuropathy associated with monoclonal gammopathy.

• MeSH
• demyelinizační nemoci imunologie   terapie   MeSH
• elektromyografie metody   MeSH
• elektrostimulační terapie metody   MeSH
• imunoglobulin M imunologie   MeSH
• lidé MeSH
• magnetická rezonanční tomografie MeSH
• mapování mozku MeSH
• nuclei mediani thalami účinky záření   MeSH
• paraproteinemie komplikace   imunologie   terapie   MeSH
• senioři MeSH
• tremor komplikace   imunologie   terapie   MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• práce podpořená grantem MeSH
• Názvy látek
• imunoglobulin M MeSH

Viscosity was determined in a series of 1402 paraproteinemic sera. Viscosity was measured on an ultrasonic viscosimeter of domestic design and was expressed in relative units(ru). Increased viscosity over 2.1 ru was found in 288 sera, i.e. 20.5%. Clinical symptoms of the hyperviscosity syndrome were found in 44 cases (3%) with viscosity over 4.0 ru. Malignant monoclonal gammopathy as proved in all 44 cases. In 17 determinations with the presence of paraprotein IgM, the mean viscosity was 6.35% +/- 2.6 ru, and the mean paraprotein concentration was 41.12 +/- 11.26g/l. In 17 cases we found paraprotein IgG with a mean viscosity of 6.38 +/- 2.4 ru and a mean concentration of paraprotein was 63.66 +/- 14.52g/l. In 9 determinations with the presence of paraprotein IgA, the mean viscosity as 5.22 +/- 1.02 ru and the mean paraprotein concentration was 49.77 +/- 13.89g/1. In one case we found a double paraproteinemia of IgG-lambda + IgA-kappa (31.9 + 24.2g/l), with a viscosity of 10.5 ru.

• MeSH
• dospělí MeSH
• imunoglobuliny analýza   MeSH
• lidé středního věku MeSH
• lidé MeSH
• paraproteinemie krev   imunologie   MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• viskozita krve * MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• imunoglobuliny MeSH

In a series of 2038 paraproteinemic sera, 9 IgD paraproteins (0.44%) were found. Clinical diagnosis of all the 9 was multiple myeloma. One patient had an IgD-lambda plasmacytoma which developed into plasmocellular leukemia. Our series of IgD paraproteins consisted of 6 females and 3 males with a mean age of 58.5 years. The mean concentrations of IgD paraproteins were 6.7 +/- 4.26 g/l and the mean proteinuria was 5.1 +/- 4.76 g/24 h. Eight IgD paraproteins had light chains lambda and one had light chains kappa.

• MeSH
• beta-2-mikroglobulin analýza   MeSH
• dospělí MeSH
• imunoglobulin D krev   moč   MeSH
• imunoglobuliny - kappa-řetězce MeSH
• imunoglobuliny - lambda-řetězce MeSH
• imunoglobuliny krev   MeSH
• lehké řetězce imunoglobulinů MeSH
• lidé středního věku MeSH
• lidé MeSH
• mnohočetný myelom komplikace   imunologie   MeSH
• paraproteinemie diagnóza   etiologie   imunologie   MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• sexuální faktory MeSH
• věkové faktory MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• beta-2-mikroglobulin MeSH
• imunoglobulin D MeSH
• imunoglobuliny - kappa-řetězce MeSH
• imunoglobuliny - lambda-řetězce MeSH
• imunoglobuliny MeSH
• lehké řetězce imunoglobulinů MeSH

Monoclonal immunoglobulins (M-Ig) cause due to their chemical structure and physical properties some pathological manifestations. In the text all skin changes are analyzed which are supposed to be associated with M-Ig. Some light chains form amyloid masses which can damage almost all organs. M-Ig can perhaps enhance also the capillary permeability although their role in the capillary leak syndrome remains obscure.

• MeSH
• imunoglobuliny metabolismus   MeSH
• lidé MeSH
• paraproteinemie * imunologie   metabolismus   patologie   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• anglický abstrakt MeSH
• časopisecké články MeSH
• přehledy MeSH
• Názvy látek
• imunoglobuliny MeSH

The authors describe the clinical observation and therapeutic experience of the seven-year follow-up of a female patient with Behcet's disease according to the diagnostic classification criteria of the International Study Group (1990). The remarkable feature of the described observation is evidence of the herpes simplex virus type I in the oral cavity and in particular the five-year follow-up of stabilized paraproteinaemia IgG lambda of obscure impact.

• MeSH
• Behcetův syndrom komplikace   MeSH
• dospělí MeSH
• imunoglobulin G * MeSH
• imunoglobuliny - lambda-řetězce * MeSH
• lidé MeSH
• paraproteinemie komplikace   imunologie   MeSH
• stomatitida herpetická komplikace   MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• ženské pohlaví MeSH
• Publikační typ
• anglický abstrakt MeSH
• časopisecké články MeSH
• kazuistiky MeSH
• Názvy látek
• imunoglobulin G * MeSH
• imunoglobuliny - lambda-řetězce * MeSH

The concentration of IgG1-4 subclasses was determined in a series of 10 IgG1 paraproteinemias (5 multiple myelomas and 5 non-myeloma paraproteinemias) and in a series of 11 IgA paraproteinemias (7 multiple myelomas and 4 non-myeloma paraproteinemias). In the group of IgG1 myelomas, deficiency was established in the subclasses IgG2-4, in the group of IgA myelomas, deficiency was proved in all IgG1-4 subclasses as compared with non-myeloma paraproteinemias. Decreased IgG heterogeneity in IgG1 myelomas was demonstrated by the method of isoelectric focusing.

• MeSH
• dospělí MeSH
• imunoglobulin A analýza   MeSH
• imunoglobulin G analýza   klasifikace   MeSH
• lidé středního věku MeSH
• lidé MeSH
• paraproteinemie imunologie   MeSH
• senioři MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• imunoglobulin A MeSH
• imunoglobulin G MeSH