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1.

Introduction:

Heavy chain diseases (HCD) are neoplastic proliferations of B cells which secrete truncated immunoglobulin heavy chains without associated light chains. Being rare and probably underdiagnosed diseases the aim of this report is to show an additional case of gamma heavy chain disease in a 48 year old female patient with rheumatoid arthritis focusing on the laboratory presentation.

Materials and methods:

Laboratory work-up included agarose gel electrophoresis (AGE), capillary zone electrophoresis (CZE), immunofixation and nephelometrically determined immunoglobulin and immunoglobulin subclasses of the patient’s serum. Urine samples were also subjected to immunofixation and to a SDS-PAGE with consecutive immunoblot.

Results:

Nephelometrically measured elevated IgG concentrations were noted in combination with a decreased gamma globulin region and an increased beta globulin region on AGE. A definite monoclonal spike was not identified on AGE but at least suspected on CZE; finally serum and urine immunofixation demonstrated a monoclonal gamma heavy chain devoid of any corresponding light chains confirming the diagnosis of HCD. Analysis of the gamma heavy chain (HC) with means of SDS-PAGE revealed proteins of 40 kD and 80 kD most likely presenting a truncated HC in its monomeric and dimeric form and possibly leading to the failure of IgG-subclass typing with the applied IgG subclass antisera.

Conclusion:

This case report illustrates a new case of gamma HCD demonstrating variable laboratory manifestations and therefore the need for heightened awareness concerning this disease when confronted with abnormal and discrepant protein profiles in routinely applied laboratory tests.  相似文献   

2.
In the present study, monoclonal gammapathy was identified in a total of 245 patients of plasma cell dyscrasias during period of 1987 to 2000. The monoclonal band was identified in serum by agar gel electrophoresis in all the cases and in urine in a few cases. Characterization of paraprotein (monoclonal immunoglobulin class and light chain type) was carried out by employing immunoelectrophoresis and/or immunofixation electrophoresis using heavy chain specific gamma, alpha, mu, delta and epsilon and light chain specific kappa (K), lambda (λ) antisera. Serum immunoglobulins Ig G, Ig A, and Ig M were estimated by immunoturbidometry. Serum urea, creatinine, uric acid, alkaline phosphatase, total proteins, albumin, calcium and phosphorus were estimated by using routine biochemical methods. Among the 245 cases, 73.1% monoclonal gammapathies were of secretory type and 7.3% were non-secretory. Monoclonal gammapathies were associated with 80.4% of multiple myeloma, 8.9% of solitary plasmacytoma, 4.1% of extra-medullary plasmacytoma, 3.3% of lymphoma and 2.9% of plasma cell leukemia. Classification of secretory monoclonal immunoglobulin revealed monoclonal immunoglobulin Ig G in 74%, Ig A 15% and Ig M in 2.9% cases.  相似文献   

3.
The purpose of this study was to evaluate the efficacy of multi-capillary electrophoresis instrument in clinical laboratory. An automated clinical capillary electrophoresis system was evaluated for performing serum proteins electrophoresis and immuno-fixation electrophoresis by subtraction. In this study the performance of capillary electrophoresis was compared with the cellulose acetate membrane electrophoresis and agarose gel immunofixation electrophoresis for serum proteins. The results of capillary electrophoresis and cellulose acetate membrane electrophoresis were good (r=0.89∼0.97) for protein fractions and A/G ratio except for β-gobulin fraction (r=0.60). Both within-run and day to day precisions (CVs) of assay results for 5 main fractions and A/G ratio (n=10) were between 0.3∼6.3%. The reference ranges of serum protein fractions obtained from 200 healthy individuals by cellulose acetate membrane electrophoresis were almost equal to that of capillary electrophoresis except for α-1 globulin fraction. No significant difference of electropherograms between cellulose acetate electrophoresis and capillary electrophoresis was observed in the abnormal serum such as presence of bilirubin (<20mg/dl), hemoglobin (<300 mg/dl), lipid (Intralipos <1%) and samples from patients with acute phase response, liver injury, polyclonal hyper gammaglobulinemia or M-proteinemia. The method of capillary immuno-fixation electrophoresis by subtraction showed good agreement with agarose gel immunofixation electrophoresis by subtraction identifying 30 monoclonal gammmopathy patient samples.  相似文献   

4.
Multiple myeloma is a group of B-cell disorders resulting in the secretion of a specific and unique monoclonal immunoglobulin (M-protein). Protein electrophoresis is advised whenever multiple myeloma is suspected. The monoclonal protein migrates as a single entity in the electric field and is detected by the non-specific protein stain as a more intensely stained band superimposed on the usual protein pattern. The M-protein usually migrates in the gamma or beta region of the normal protein pattern; very rarely it may appear in the α2 or even in α1 region. Here we have given an atypical case presentation where the patient with multiple myeloma presented with two M-spike one each in α2 and β-globulin region on agarose gel protein electrophoresis with hypoglobulinemia but with reversed A:G ratio.  相似文献   

5.

Introduction:

We present our work of monitoring 202 different patients with markedly elevated serum index for lipemia whereby serum samples were clear. We tried to clarify the cause of occurrence of these indices which were detected in the years 2006–2010 on Siemens Dimension analyzers.

Materials and methods:

In samples with unusual lipemia index we measured the concentration of lipids (total cholesterol, triglycerides, HDL and LDL cholesterol, Lp(a), ApoA1, ApoB), total proteins and checked for possible interferents (rheumatoid factor, immunoglobulins). We performed serum protein and immuno- electrophoresis. We investigated the repeatability of unusual lipemia indices during the day and after different time periods and we compared them on four different analyzers (RXL Max, Vista, Hitachi 911 and former Olympus AU640).

Results:

In 87% of 202 samples we found a monoclonal or biclonal peak in serum protein electrophoresis. Different types of paraproteins were confirmed with immunofixation electrophoresis. In the remaining 13%, polyclonal elevated concentrations of immunoglobulins were measured. Other parameters had no influence on appearing of these indices. The repeatability of indices was good during the first day of measurements (P values > 0.05) and markedly lower in the next days or after 3 and 12 months (P values < 0.05). The indices were elevated only on Dimension analyzers, but not on Hitachi and former Olympus analysers.

Conclusion:

A markedly elevated lipemia index in a clear serum sample measured on Siemens analyzers Dimension indicates a high possibility for the presence of a paraprotein in the sample.  相似文献   

6.
Errors in laboratory medicine occur in the preanalytical, analytical, and postanalytical phases. The errors are mostly detected in the preanalytical period. However, analytical errors are still an important source of error, despite their frequency is reduced significantly in years thanks to developments in laboratories. In this case, an analytical error was noticed during the verification of a patient’s results. The direct bilirubin of a 66-year-old male patient admitted to the emergency department was higher than the total bilirubin. The patient’s symptoms were fatigue and dyspnoea. Albumin and haemoglobin (Hb) concentrations of the patient were significantly low. After considering the patient’s demographics and laboratory results, the laboratory specialist suspected a paraproteinemia interference. Total protein was performed as a reflective test. The albumin/globulin ratio was reversed. Thereafter, serum protein electrophoresis (SPEP) and immunofixation electrophoresis (IFE) were performed as another reflective tests, respectively. SPEP and IFE results were in favour of monoclonal gammopathy. The patient was directed to a haematologist, underwent a bone marrow biopsy, and the result was reported as Waldenstrom’s macroglobulinemia with plasma cell differentiation expressing IgM-Kappa. The patient went on a chemotherapy protocol, and his condition has been improved in subsequent months. Detection of analytical errors is of great importance, like in our case, and may be used as a tool to identify patients who have not yet been diagnosed. The laboratory specialist must dominate the entire process of each test in the laboratory, be aware of the limitations of tests, and turn these disadvantages into advantages when necessary.  相似文献   

7.

Introduction:

Serum blood collection tubes with separator gel are widely used by many laboratories for chemistry analyses. We describe a case of a primary blood collection tube filled with blood sample and a floating separator gel.

Materials and methods:

The blood sample was collected from a 51 years old female in intensive care unit with the diagnosis of pneumonia into a BD Vacutainer SST tube (Becton Dickinson, NJ, USA) containing serum separator gel and conveyed to the core laboratory of Marmara University Hospital within 30 minutes from collection. Sample was immediately centrifuged at room temperature at 1500 × g for 10 minutes.

Results:

The analyses revealed a highly increased total protein concentration of 145 g/L (reference interval 64–83 g/L). The nephelometric analyses showed an elevated serum IgG concentration of 108 g/L (reference interval 6.5–16 g/L) and IgG lambda monoclonal band was determined by serum immunofixation electrophoresis.

Conclusion:

Limitation of the separator gel tubes in patients with a high plasma density and its possible effects on test results and laboratory costs should be remembered. The clinical diagnosis stated in the information system should also reveal known comorbid conditions besides the apparent admission reason. This information would avoid resampling, additional testing, and communication efforts with the clinicians.  相似文献   

8.
Serum and urine samples from 513 patients clinically suspected of monoclonal gammopathies over a period of five years (1992–97) were subjected to various immunological procedures viz, electrophoresis, immunoelectrophoresis and immunoglobulin estimations. Laboratory investigations confirmed gammopathies in 10.33%. It was observed that overall age of incidence for monoclonal gammopathies in both sexes was between 42–72 years with a male to female ratio of 1.4∶1. Predominant paraprotein detected was IgG type (75.47%) followed by IgA (16.98%) and Bence Jones proteins (7.55%). Amongst positive patients, 64.16% were having kappa (k) type light chains and 35.84% lambda (δ) type light chains. 69.39% patients with serum M component (IgG and IgA) had Bence Jones proteinuria. Densitometric scanning revealed that majority of IgG type paraprotein was found in the slow gamma globulin region and majority of IgA type paraprotein was found equally distributed between beta and fast gamma globulin regions. Both types had decreased albumin and alpha-2-globulin concentrations as compared to normal controls. Immunoglobulin levels in patients with paraprotein had very high levels of serum IgG (6467.0 mg%) and IgA (2714.0 mg%) in respective types of monoclonal gammopathies; the rest of immunoglobulin classes were either at normal or decreased levels.  相似文献   

9.
Upon SARS CoV-2 infection, humoral immune system triggers production of anti-SARS CoV-2 IgM and IgG antibodies. Currently, antibodies against SARS CoV-2 spike protein receptor binding domain play a central role in disease protection, making them potential target for in vitro diagnostics applications. This study determines the expression level and sustainability of anti-receptor binding domain (RBD) SARS CoV-2 IgG in post COVID-19 patients. Anti-RBD SARS CoV-2 IgG antibodies in patient serum were analysed by standardised indirect ELISA using SARS CoV-2 spike receptor binding domain protein and HRP conjugated anti-human IgG antibody (anti-h IgG). The study was conducted using 35 adult patient samples with confirmed SARS CoV-2 infection. Additionally, correlation between antibody response after each stage and disease symptoms in post COVID-19 patients were studied. Maximum antibody titre was seen at Day 40 and decreased relatively to Day 180 in antibody positive samples when compared with controls. Overall, more IgG antibody expression is observed in patients who suffered from loss of smell and taste at Day 40. 71% of the positive subjects in this study showed high SARS CoV-2 IgG antibody concentration of above 10 ng/mL and 37% showed strong antibody concentration above 20 ng/mL at the peak of seroconversion.  相似文献   

10.
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11.
A 50 year old male was admitted in our hospital with anemia and impaired renal function. He was subsequently found to have extremely elevated serum phosphate level (24 mg/dL, reference interval: 2.5–4.5 mg/dL) with normal serum calcium when assayed on a Beckman Coulter AU 480® analyser. Clinico-biochemical discrepancy led to the suspicion of spurious hyperphosphatemia. Serum total protein was grossly elevated with gross reversal of albumin to globulin ratio. Serum electrophoresis revealed a large M band and was confirmed as Ig G-Kappa type on immunofixation. Subsequently a bone marrow aspiration biopsy confirmed the diagnosis of multiple myeloma. The patient serum was then reassayed for phosphate on a Vitros® 250 Dry Chemistry platform and the result was within normal reference interval. Paraproteinemias are a common cause of analytical interference in clinical biochemistry laboratories and as multilayered film technology platforms like Vitros® assay most routine analytes on a protein free filtrate they are unaffected by paraprotein interference. Clinically discordant patient results should always be interpreted keeping such interferences in mind.  相似文献   

12.
Alpha-1-antitrypsin deficiency is a hereditary disease leading to hepatitis and cirrhosis. It is the most common genetic cause of liver disease in children which must inherit the tendency from both parents to develop. It acquires the highest priority in the differential diagnosis in a child with chronic liver disease. In this case report we substantiate the role of serum protein electrophoresis, in diagnosing alpha-1-antitrypsin deficiency.  相似文献   

13.
Separation and quantitative estimation of the isoenzymes of lactate dehydrogenase(LD) in serum were accomplished with capillary electrophoresis system. An uncoated fused silica capillary column 50 cm long, 75μm I.D. and substrate containing running buffer including L-lactic acid and NAD+ were used for the separation of serum LD isoenzymes. The resulting product of “NADH” was detected at 340 nm. Injection of 10 nL of five fold diluted serum sample were performed by pressure injection within 2 seconds. The isoenzymes were separated at 10 kV of voltage for 5 min, by turning off the voltage applied for 30 min incubation at 24°C for reaction between substrate and isoenzymes, and applying voltage of 30 min. Under these conditions, the isoenzymes of LD were detected by a NADH generated as isoenzyme of LD-5 emerged at 20 min, LD-1 peak at 23.5 min with close to baseline separation of the other isoenzymes which emerge between LD-5 to LD-1, after the emergence to LD-1 peak, followed another peak, termed “sample shock”: The results obtained by the proposed method correlated well with those by gel electrophoresis systemes (r=0.92∼0.98) for each five LD isoenzymes, respectively. Within-run precision CVs for 5 replicate analysis were 3.01 (LD-3, mean 14.6%)%∼7.82% (LD-4, mean 4.22%.), respectively.  相似文献   

14.
A 64-year-old security guard and longstanding known hypertensive presented with hypertensive heart disease (HHD), weight loss, an enlarged prostate, and a spontaneously fractured rib. Malignancy of the prostate with possible metastases to the ribs was strongly suspected. Biochemical profiling revealed a paraprotein. Other biochemical and hematological correlates that were on hand before serum protein electrophoresis were rather atypical. Paraprotein studies by immunofixation revealed IgA myelomatosis. Unlike previous reports from Caucasians there was normocalcaemia, normal protein level, microcytic hypochromia, low MCHC, cholesterol level at the lower limit of the reference range and normal urea level (in the face of markedly raised creatinine level). Nutritional modulation of the classical laboratory features of this disease may account for the fairly atypical laboratory picture. The need to appreciate the influence of nutritional status on the laboratory (especially biochemical) features of a disease and thus interpretation of diagnostic tests appears of exceptional current importance, given the widening gap in socioeconomic status and the level of poverty between the resource poor and developed countries from which the classical, clinical and laboratory features of most diseases were first described. This case report reminds of the need not only to recognize theoretically the impact of nutritional status on the laboratory characteristics of a disease but of the practical application of the nutritional perspective in the interpretation of diagnostic investigations, especially in nutritionally disadvantaged communities.  相似文献   

15.
Routine investigations of a 70 year old male led to provisional diagnosis of anemia. However further investigations suggested the possibilities of carcinoma of stomach associated with pernicious anemia, multiple myeloma and megaloblastic anemia. Finally serum protein electrophoresis supported by the clinical suspicion confirmed multiple myeloma.  相似文献   

16.
In order to determine time efficiency between the gel-based microchip (LabChip) and traditional sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE), glycoproteins and lipopolysaccharides were analyzed in this study. After 90 min of gel electrophoresis, glycoproteins (bovine serum albumin, lysozyme, ovalbumin, and apo-transferrin) and fluorescent lipopolysaccharides (LPS-O and LPS-S) under reducing conditions could be analyzed by SDS-PAGE, and it would take (including imaging and analyzing) more than 3 h. The same sample could also be assayed on a Bioanalyzer in combination with the LabChip, and it would only need 30 min from start to finish. The assay software automatically calculated the size and concentration of each separated peak and displayed the results in real time, thus eliminating time-consuming procedures such as imaging and analyzing. Compared to the traditional reducing SDS-PAGE, LabChip has a faster turnaround time.  相似文献   

17.
Light chain disease is a variant of multiple myeloma in which the malignant population of marrow cells produces free monoclonal light chains but no heavy chain or complete immunoglobulin. The monoclonal light chains are small enough to be freely filtered by the kidneys and become Bence–Jones protein. Light chain disease comprises about 18% of multiple myeloma patients. Here we present a case report of a 38-year-old man who initially presented with complaints of pain in back and low grade fever off and on. He was found to have collapse of D9 and D12 vertebrae along with ascites and right pleural effusion and massive proteinuria. Multiple myeloma was considered as a differential diagnosis based on the investigations but eventually the patient was lost to follow up. This case is reported here as the light chain variant of multiple myeloma leading to deposition disease is less commonly reported and presents considerable difficulties in diagnosis.  相似文献   

18.
The analysis of biochemical parameters in 162 patients with various neoplastic disorders along with 50 normal subjects showed significant rise in serum alkaline phosphatase and lactate dehydrogenase as compared to normal subjects. 21 patients with other monoclonal gammopathies which include infection and immunological diseases were also studied. Parameters such as serum calcium, uric acid, total protein, albumin and globulin were also analyzed in 42 (26%) cases of multiple myeloma, 27 (17%) cases of gastro-intestinal malignancies, 22 (14%) cases of urogenital malignancies, 11 (6%) cases of carcinoma breast, 4 (2%) cases of bone tumors, 21 (12%) cases of other monoclonal gammopathies, including 7 (4%) cases of infection and 14 (8%) cases of immunological diseases. The results indicate use of enzymes alkaline phosphatase and lactate dehydrogenase in neoplastic disorders.  相似文献   

19.
Elevated Apolipoprotein B Apolipoprotein A-I ratio is a risk factor for predicting coronary artery disease (CAD). Paraoxonase 1 (PON1) is a high density lipoprotein (HDL) associated serum enzyme. PON1 protects lowdensity lipoproteins (LDLs) from oxidative modifications and thus has a protective effect against CAD progression. There are two common polymorphisms, Q192R and L55M, in PON1 gene. There may be a relationship between these polymorphisms and elevated ApoB/ApoA-I ratios. Therefore, we decided to evaluate effect of these polymorphisms on individuals with high and normal ApoB/ApoA-I ratios. To evaluate Q192R and L55M polymorphisms in Iranian case group (n=75) with high ApoB/ApoA-I ratio, and control group (n=75) with normal ApoB/ApoA-I ratio, we carried out PCR using specific primers. Then, we digested PCR products by RFLP. ApoB and ApoA-I levels were determined by immunoturbidimetry method. Genotype frequencies for Q192R were determined: 49.3%QQ, 44%QR, 6.7%RR in case group, and 53.3%QQ, 33.3%QR, 13.4%RR in controls (P= 0.236). Genotype frequencies for L55M were determined: 21.3%LL, 68%LM, 10.7%MM in case group and 42.7%LL, 52%LM, 5.3%MM in controls (P= 0.016). A significant relationship between L55M polymorphism and familial history of cardiovascular disease was found (P= 0.011). In our study PON1L55M polymorphism was associated with high ApoB/ApoA-I ratios in case group. Thus, L55M polymorphism may be an independent risk factor for cardiovascular disease. Since L55M polymorphism was associated with familial history of cardiovascular disease, it is better to evaluate L55M polymorphism in younger ages even in the absence of high ApoB/ApoA-I ratios.  相似文献   

20.
Epilepsy raises special concern in women during pregnancy. Antiepileptic drugs are known to induce major and minor malformations in the foetus. Aim of the study was to find an association between maternal serum alpha fetoprotein levels, foetal abnormalities and antiepileptic drugs mediated teratogenicity. Maternal serum alpha feto protein levels, kidney and liver function tests in age matched normal pregnant women and seizure free epileptic pregnant women during 12–14 weeks of gestation were estimated. Cases were subjected to ultrasonography at 11th–14th week of pregnancy and again at 20th week of pregnancy. maternal serum alfa feto protein was assayed by a specific Electro Chemiluminescence Immuno Assay test. There was no significant difference in kidney and liver function tests in cases as compared to controls. There were elevated levels of alpha feto protein in cases as compared to controls but this was not statistically significant. No anomalies were detected in ultrasound reports. Most women had normal full term delivery with healthy children but of low birth weight. No correlation was seen between maternal serum alfa feto protein levels and antiepileptic drug leading to teratogenesis.  相似文献   

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