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BC: Articoli scritti da A. Caldini

Un caso di mieloma multiplo IgG kappa in cui la misura delle catene leggere libere ha evidenziato precocemente una ripresa di malattia di tipo “light chain escape”
A case of IgG kappa multiple myeloma where the measurement of the free light chains was an early marker of a “light chain escape” relapse
<p>Light chain escape (LCE) is a type of relapse where a serum free light chains (FLC) increase is observed, in the absence of a parallel increase of the original monoclonal component; this particular kind of relapse seems to be influenced by new therapeutic regimens. We present a case of a 55-years old man with a IgG kappa multiple myeloma (MM), who underwent double autologous bone marrow transplantation as first line therapy; after relapse, the patient was treated with lenalidomide/dexamethasone (LD). After more than three years of LD treatment, in September 2014, an increase of FLCs was observed, while serum and urine immunofixations remained negative until January and February 2015 respectively, when a LCE was diagnosed. Despite the new treatment, the patient died in June 2016. The FLCs measurement, although not reaching the IMWG criteria, detected relapse earlier than immunofixation. This case indicates that FLCs should be routinely performed during follow up of MM patients to ensure that LCE is not missed.</p>
Biochimica Clinica ; 41(3) e22-e24
Casi clinici - Case report
 
La diagnostica di laboratorio della malattia renale cronica in Italia: armonizzare è d’obbligo
The laboratory role in chronic kidney disease (CKD) in Italy: need of harmonization
<p>The diagnosis and&nbsp;classification of CKD are based on laboratory tests. Aim of this paper is to examine different aspects of the laboratory&nbsp;contribution to verify their harmonization at national level. We review relationships between laboratory and clinical&nbsp;organizations, the role of 2012 Kidney Disease Improving Global Outcomes (KDIGO) guidelines, the quality of&nbsp;creatinine and urine albumin measurements, the status of estimated glomerular filtration rate (eGFR) reporting, the use&nbsp;of cystatin C and testing plans. Questionnaires examining different aspects of the CKD diagnostics were sent out and&nbsp;EQAS for creatinine and urine albumin measurements were carried out. For creatinine measurement, enzymatic&nbsp;assays show the best performance, while for urine albumin a bias still exists between different methods. The eGFR is&nbsp;routinely reported by 75% of surveyed laboratories, but only 15% of them use the equation derived by the CKDEpidemiology&nbsp;Collaboration (CKD-EPI) study. For urine albumin, the recommended first morning void sample is used&nbsp;by ~60% of laboratories, but the wrong terminology of &ldquo;microalbuminuria&rdquo; is still used by &gt;40% of them. Cystatin C is&nbsp;offered by a minority of laboratories. In conclusion, even if an improvement can be observed during the recent years,&nbsp;efforts for a better alignment to international recommendations are needed. Often they just require cultural and&nbsp;organizational changes, without the availability of additional economic resources.</p>
Biochimica Clinica ; 39(6) 617-626
Opinioni - Opinions
 
Un caso di gammopatia monoclonale di significato renale in un paziente con glomerulopatia immunotattoide
A case of monoclonal gammopathy of renal significance in a patient affected by immunotactoid glomerulopathy
<p>Monoclonal gammopathy of renal significance is defined by the causal relationship between a small&nbsp;B-cell clone and the renal disease. Immunotactoid glomerulopathy is a rare glomerular disease characterized by<br />highly organized crystalline structure of Congo Red-negative immune deposits in the absence of systemic disease.&nbsp;We describe a 54 years-old man with non-nephrotic proteinuria and chronic renal failure. Laboratory findings revealed&nbsp;a serum monoclonal component. Renal histology showed a morphological pattern of membrano-proliferative&nbsp;glomerulonephritis; electron microscopy evidenced micro tubular structures within the mesangium measuring&nbsp;approximately 20 nm in thickness, similar to cryoglobulins. Renal immunofluorescence demonstrated in the deposits&nbsp;the same monoclonal component observed in serum, leading to a final diagnosis of immunotactoid glomerulopathy.</p>
Biochimica Clinica ; 39(6) e22-e24
Casi clinici - Case report
 
Valutazione dell’impatto delle raccomandazioni del Gruppo di Studio SIBioC Proteine sull’operatività dei laboratori italiani
Evaluation of the impact of recommendations by the SIBioC Proteins Study Group on Italian laboratory procedures
<p>Protein diagnostics is central in the management of subjects with monoclonal gammopathy. Laboratory&nbsp;should provide the most useful information to ensure the best patient outcome. To assess if recommendations issued&nbsp;after the 2007 survey have impacted on Italian laboratories contributing to a better harmonization of the post-analytical&nbsp;phase, the SIBioC Proteins Study Group has repeated a similar survey in February 2015. Twenty questions were&nbsp;electronically submitted to all SIBioC members using the software &quot;Survey monkey&quot;. 103 responses were collected,&nbsp;corresponding to ~6% of Italian laboratories. 47% of laboratories add an appropriate comment to the serum protein&nbsp;electrophoresis report when no monoclonal component (MC) is detected (36% in 2007). MC are correctly defined by&nbsp;63% of the laboratories; however, 11% reports MC as &ldquo;thickening&rdquo; or &ldquo;asymmetry&rdquo; or &ldquo;homogeneous peak&rdquo;. These&nbsp;ambiguous terms were used by roughly the same percentage (14%) in 2007. In 2015, the number of laboratories&nbsp;performing a MC typing only when requested by the clinician is reduced by 10% when compared to 2007. In both&nbsp;surveys, the percentage of laboratories performing and reporting the MC quantification is 77%. The worse results were&nbsp;obtained for Bence Jones protein (BJP) determination (not investigated in 2007): only 66% of laboratories utilize the&nbsp;immunofixation to detect the BJP and 57% do not quantify the protein. Although some progresses in harmonization of&nbsp;reporting are observed in CM testing over years, there is still room for significant improvement.</p>
Biochimica Clinica ; 39(6) 585-590
Contributi scientifici - Scientific Papers
 
L’aggiornamento dei criteri per la diagnosi di mieloma multiplo da parte dell’“International Myeloma Working Group”
The update of the criteria for the diagnosis of multiple myeloma by the International Myeloma Working Group (IMWG)
<p>The IMWG has recently updated the disease definition of multiple myeloma, by adding validated biomarkers&nbsp;to the existing requirements of organ damage (hypercalcemia, renal insufficiency, anemia, bone lesions). These&nbsp;changes are based on the identification of biomarkers able to detect the subset of patients with smouldering multiple&nbsp;myeloma at imminent risk of developing organ damage and should, therefore, be considered for therapy. Considering&nbsp;that the clinical laboratory is involved in the measurement of these new markers, this paper is aimed to illustrate the&nbsp;proposed changes giving at the same time some indications for their accurate measurements. As for the organ&nbsp;damage, the major change is related to the evaluation of renal function: the new criteria include the estimation of the&nbsp;glomerular filtration rate using established formulas (eGFR) rather than the use of serum creatinine concentrations&nbsp;alone, as previously indicated. The diagnosis of renal insufficiency requires an eGFR &lt;40 mL/min/1.73 m<sup>2</sup>. The&nbsp;criteria for anemia and hypercalcemia remain unchanged. As biomarker of malignancy, a ratio &gt;100 of involved to&nbsp;uninvolved serum free light chains is recognized. Another relevant modification is the elimination of the monoclonal&nbsp;protein quantification; it is based on the consideration that an important percentage of patients with multiple myeloma&nbsp;does not show a serum or urine monoclonal protein. Other changes based on imaging techniques or bone marrow&nbsp;examination do not involve the clinical laboratory and are not discussed in this paper. Additional biomarkers will&nbsp;probably be indentified in the near future, but they need to be validated by more independent studies.</p>
Biochimica Clinica ; 39(4) 275-280
Opinioni - Opinions
 
Raccomandazioni per la diagnosi neonatale delle emoglobinopatie
Recommendations for the diagnosis of hemoglobinopathies at birth
<p>The laboratory plays an important role in the&nbsp;diagnosis of hemoglobin defects at any age. At the time of birth its role is particularly significant, considering that&nbsp;frequently the newborn has not clinical signs, even when he is carrying thalassemia or other structural defects of&nbsp;hemoglobin. The diagnostic precocity in the affected newborn will help to predict risk, determine appropriate prophylaxis&nbsp;and prevent complications. It may also be helpful for programming treatment and parent control, and planning a&nbsp;prevention for a future pregnancy. In Italy, there have been important demographic and social health changes over the&nbsp;past decade that have suggested the implementation of hemoglobinopathy screening at birth. In addition, the need to&nbsp;know the hemoglobin pattern of the cord blood for possible biobank storage should be regarded as another relevant&nbsp;target. Therefore, it seems timely to define pathways, scope and limits of a correct thalassemia diagnosis at birth through&nbsp;specific recommendations. The Italian Society of Thalassemias and Haemoglobinopathies (SITE) had already published&nbsp;recommendations for first level thalassemia diagnosis, which were primarily focused on preconceptional prevention. This&nbsp;new document provides essential guidance about laboratory methods, pre- and post analytical information flows and&nbsp;about the most appropriate approach to be followed.</p>
Biochimica Clinica ; 39(2) 116-134
Documenti SIBioC - SIBioC Documents
 
Documento di consenso SIBioC e Società Italiana di Radiologia Medica (SIRM) sulla richiesta di esami di laboratorio per la valutazione del danno renale da mezzi di contrasto
SIBioC-SIRM consensus document on the request of laboratory tests for evaluation of contrast media nephrotoxicity
<p>The contrast media, widely used in imaging diagnostics, show a favorable safety profile. As the&#160;presence of pre-existing disease is considered a risk factor for adverse events, patients should be carefully evaluated&#160;prior to the procedure. The aim of this consensus document is to recommend appropriate biochemical tests to be&#160;performed for an early recognition of individuals at higher risk of contrast media nephrotoxicity. This condition is defined&#160;by an increase of serum creatinine concentrations of at least 0.50 mg/dL and/or 25% within 3-4 days from contrast media&#160;exposure. The most important risk factor is renal insufficiency [estimated glomerular filtration rate (eGFR) &lt;60&#160;mL/min/1.73 m<sup>2</sup> or serum creatinine &gt;1.50 mg/dL]. Other risk factors are age &gt;75 years, dehydration, diabetes, heart&#160;failure and anemia. Monoclonal gammopathies, multiple myeloma, Waldenstr&#246;m macroglobulinemia and amyloidosis&#160;are not considered risk factors per se. On the basis of available guidelines, it is recommended: a) prior to the&#160;examination, to measure serum creatinine baseline with a method traceable to the international reference measurement&#160;system and report its concentration together with the eGFR using the Chronic Kidney Disease &#8211; Epidemiology&#160;Collaboration (CKD-EPI) equation; b) for monitoring, to measure serum creatinine more than once calculating the delta&#160;from the baseline value: if serum creatinine increases &gt;5%, repeat the test within 48-72 h. Performing of laboratory tests&#160;to exclude the presence of monoclonal gammopathies (i.e., serum protein electrophoresis, Bence Jones protein&#160;determination, serum free light chain measurements) is not required.</p>
Biochimica Clinica ; 38(2) 139-142
Documenti SIBioC - SIBioC Documents
 
Rispondono gli Autori dell’articolo in questione
In reply
Biochimica Clinica ; 38(2) 157-158
Lettere all'Editore - Letters to the Editor
 
La determinazione delle catene leggere libere nel siero può sostituire la ricerca e quantificazione della proteinuria di Bence Jones nella pratica clinica?
Can serum free light chain determination replace detection and quantitation of Bence Jones proteinuria in clinical practice?
<p>Serum free light chain (FLC) determination became available for clinical laboratories 12 years ago.&nbsp;Since its introduction, it has been postulated that the urine study (i.e. Bence Jones proteinuria detection and&nbsp;quantitation) could have been abandoned due to the higher sensitivity and better practicability of the serum FLC&nbsp;assay. This paper investigates this hypothesis, presenting the evidence derived from the literature so far. Primary&nbsp;studies show some results in favour of the urine study discontinuation; however, a correct evaluation of this evidence&nbsp;is hampered by the lack of information about the sensitivity of the immunofixation method used as comparison. A&nbsp;number of guidelines and recommendations has been published on plasma cell dyscrasias, examining different&nbsp;clinical settings where the two tests can be used (screening, diagnosis, risk stratification, monitoring and response to&nbsp;treatment). Serum FLC measurements should be preferred in the screening and risk stratification subsets [apart from&nbsp;amyloidosis and POEMS (Polineuropathy, Organomegaly, Endocrinopathy, Monoclonal protein and Skin changes)&nbsp;syndrome]; on the contrary, determination of Bence Jones proteinuria should be used in the assessment of the&nbsp;response to therapy, when disease is quantifiable. At the moment, the FLC determination cannot replace the urine&nbsp;study in any circumstance and the two tests should be considered complementary until other evidences will be&nbsp;provided. Considering the dependence of both tests upon renal function, studies examining this issue could help&nbsp;elucidating their role in the wide scenario of plasma cell dyscrasias.</p>
Biochimica Clinica ; 37(5) 405-418
Opinioni - Opinions
 
Indicazioni per la misura dell'albumina nelle urine per l'accertamento e il monitoraggio della nefropatia diabetica
Recommendations on the urine albumin measurement for diagnosis and monitoring of diabetic nephropathy
Biochimica Clinica ; 35(2) 127
DOCUMENTI SIBioC - SIBioC Documents