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Maria Stella Graziani

Deputy Director
Martina Zaninotto

Associate Editors
Ferruccio Ceriotti
Davide Giavarina
Bruna Lo Sasso
Giampaolo Merlini
Martina Montagnana
Andrea Mosca
Paola Pezzati
Rossella Tomaiuolo
Matteo Vidali

International Advisory Board Khosrow Adeli Canada
Sergio Bernardini Italy
Marcello Ciaccio Italy
Eleftherios Diamandis Canada
Philippe Gillery France
Kjell Grankvist Sweden
Hans Jacobs The Netherlands
Eric Kilpatrick UK
Magdalena Krintus Poland
Giuseppe Lippi Italy
Mario Plebani Italy
Sverre Sandberg Norway
Ana-Maria Simundic Croatia
Tommaso Trenti Italy
Cas Weykamp The Netherlands
Maria Willrich USA
Paul Yip Canada

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Responsible Editor
Giuseppe Agosta

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Andrea di Bello
Biomedia srl
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ISSN print: 0393 – 0564
ISSN digital: 0392- 7091

Biochimica Clinica: VOL.43 N.3

Scarica intero fascicolo
La determinazione dell’insulina richiede particolari attenzioni
A. Mosca  | 
Biochimica Clinica 2019; 43(3) 255
DOI: 10.19186/BC_2019.060
Pubblicato online il: 17.07.2019
Editoriale - Editorial
La spettrometria di massa nella diagnosi e nel monitoraggio delle gammopatie monoclonali
Mass spectrometry in diagnosis and monitoring of monoclonal gammopathies

The identification ofmonoclonal components requires the use of protein electrophoresis, immunofixation electrophoresis of serum andurine and serum free light chain measurement. The combination of these three tests grants the highest diagnosticperformance in different clinical settings. In clinical practice, the monoclonal protein (M-protein) is detected in apatients’ serum or urine by the appearance of a distinct protein band migrating within regions typically occupied byimmunoglobulins. Immunofixation or immunotyping then provides evidence that the identified protein band is anintact immunoglobulin or an immunoglobulin light chain. Taking into consideration that each M-protein is composedby a sequence of amino acids pre-defined by somatic recombination unique to each clonal plasma cell, the molecularmass of the M-protein can act as a surrogate marker of the protein composition. The Mayo Clinic researchersestablished mass spectrometry-based methods to assign molecular mass to the monoclonal immunoglobulin lightchain and used this to detect the presence of M-proteins. The first method proposed is based on the enrichment ofserum for immunoglobulins, followed by reduction to separate light chains from heavy chains, followed by microflowLC-ESI-Q-TOF mass spectrometry. The second method is based on the enrichment of nanobodies and thesubsequent analysis on a matrix-assisted laser desorption mass spectrometer (MALDI). Both methods demonstrateda comparable diagnostic sensitivity to the standard procedures and could be considered as a possible futuresubstitution of immunofixation.

TAG: Mieloma multiplo   catene leggere   elettroforesi  
Biochimica Clinica 2019; 43(3) 256-263
DOI: 10.19186/BC_2019.043
Pubblicato online il: 04.07.2019
Rassegne - Reviews
La diagnostica di laboratorio nella sindrome da apparente eccesso di mineralcorticoidi
The laboratory diagnosis of apparent mineralocorticoid excess (AME)

The apparent mineralocorticoid excess(AME) is a rare genetic disorder caused by impaired activity of the enzyme 11β-hydroxysteroid dehydrogenase type2 (11βHSD2). This abnormality is associated with cortisol excess and abnormal activation of mineralocorticoidreceptor, which is usually only activated by aldosterone. More than 50 known mutations have been associated withAME; whilst some epigenetic modifications may also be involved. AME causes severe hypertension and is hencetraditionally diagnosed during the first years of life. Deficit of 11βHSD2 also occur in other physiopathologicalconditions like pre-eclampsia, sodium-sensitive hypertension and kidney or hepatic impairment. The biochemicaldiagnosis is conventionally made by quantifying tetrahydroxylated metabolites of cortisol (THF and allo-THF) andcortisone (THE) expressed as THF+allo-THF/THE ratio and using home-made Gas Chromatography-MassSpectrometry methods. Nevertheless, some recent studies showed more accurate characterization of 11βHSD2deficit by measuring the urinary free cortisol/cortisone ratio with Liquid Chromatography-Tandem Mass Spectrometry.A final consensus on the preferred method to diagnose AME has not been reached so far, and more studies areneeded for better defining sensitivity and specificity of these tests in some different physiopathological conditionsassociated with 11βHSD2 impairment.

TAG: Cortisone   pre-eclampsia   mutazione genetica  
Biochimica Clinica 2019; 43(3) 264-268
DOI: 10.19186/BC_2019.050
Pubblicato online il: 04.07.2019
Rassegne - Reviews
URIT 11F dipstick for proteinuria testing: comparison with quantitative protein assay and evaluation of the diagnostic accuracy for proteinuria detection in a outpatient population
T. Köken  |  N. Doğan  | 

The purpose of this study is to evaluate the diagnostic performances of URIT 11F urine dipstick assay for the
detection of proteinuria comparing it with a quantitative method. 5743 urine test results [urine dipstick, urine protein
and creatinine concentrations and the calculated protein to creatinine ratio (PCR)] were collected from outpatients
with various clinical conditions. The agreement between the URIT 11F urine dipstick and quantitative protein assay
was examined. To evaluate the accuracy of urine dipstick results for proteinuria detection, we used two different cutoffs:
PCR ≥200 mg/g and ≥150 mg/g. Dipstick test results (negative, trace, 1+, 2+, 3+) were allocated to five levels
of urine protein concentration (<14, 14-30, 30.1-100, 100.1-300, >300 mg/dL) respectively. There was an agreement
with a Kappa coefficient of 0.341 and p<0.001. When PCR ≥200 mg/g was used as cut-off and “> negative” was
classified as a positive dipstick result, the agreement of the URIT 11F dipsticks improved substantially. The findings
of our study show a fair agreement between URIT 11F dipstick results and the quantitative method for urine protein.
However, our results show also a high number of false negative results with dipstick testing. While second level
laboratory testing can eliminate the false positive results, false negative results could cause a delay in beneficial early
treatment of incipient nephropathy. For this reason, more sensitive proteinuria screening test for patients with
potential early stage renal diseases should be used.

TAG: proteinuria   dipstick   protein/creatinine ratio  
Biochimica Clinica 2019; 43(3) 269-272
DOI: 10.19186/BC_2019.003
Contributi scientifici - Scientific papers
L’interferenza dell’emolisi sulla misura dell’insulina
Analytical interference of hemolysis on serum insulin measurement

Insulin is a polypeptide hormone, secretedfrom pancreatic β-cell, involved in the regulation of glucose and lipid metabolism. Insulin measurement is a useful toolto identify some clinical conditions, such as fasting hypoglycemia, some types of diabetes, the presence of insulinresistance. An important pre-analytical aspect that influences the determination of insulin serum concentration is thepresence of hemolysis. In fact, it is well known that insulin is degraded by a protease released by red blood cells afterhemolysis. The aim of this study is to evaluate the interference of hemolysis on insulin measurements performed bya chemiluminescence method. To study the effect of hemolysis on insulin degradation, we added increasingconcentrations of red blood cell hemolysate to a serum pool with known insulin concentration. The reduction of insulinlevels was affected by the degree of hemolysis, by the time elapsed before the assay and by the temperature ofsamples storage. Our results show that insulin values do not decrease significantly (<10%) when hemolysis is <2.0g/L of free hemoglobin (corresponding to H-index=200) if samples are maintained at low temperatures (i.e. in an ice-water slurry) until the assay is performed.

TAG: diabete mellito   ipoglicemia   insulina resistenza  
Biochimica Clinica 2019; 43(3) 273-277
DOI: 10.19186/BC_2019.014
Pubblicato online il: 12.04.2019
Contributi Scientifici - Scientific Papers
Telomere shortening and PCDH10 promoter methylation in colorectal cancermucosae

Background: telomerase activity and telomere length (TL) have important implications in several human diseases.Telomere shortening is associated with colorectal carcinogenesis. Recent studies also showed that protocadherin 10(PCDH10) plays a critical role in cancer cell growth, by negatively regulating telomerase activity. PCDH10isfrequently downregulated by promoter DNA methylation. The aim of this study was to investigate whether PCDH10promoter methylation was associated with TL in colorectal cancer (CRC).
Methods: DNA was extracted from 35 CRC and 35 adjacent normal tissues with Gentra Purgene Kit (Qiagen, Hilden,Germany). A quantitative methylation-specific PCR (MSP) based method was used to analyze a selected CpG site inPCDH10promoter. TL was evaluated with qPCR and expressed as telomere to single copy gene (T/S) ratio.Differences were assessed with Mann-Whitney test or Wilcoxon signed-ranks test when appropriate, whilstcorrelation analyses were performed with Spearman’s test. Diagnostic performance was calculated with receiveroperating characteristics (ROC) curve analysis. The level of statistical significance was set at p <0.05.
Results: we found that TL was significantly lower in CRC than in adjacent non-cancerous tissues (p=0.0005). Thearea under the ROC curve (AUC) for TL was 0.759 (95% Confidence Interval: 0.643-0.875, p=0.0002). AberrantPCDH10promoter methylation was detected in 100% of CRC tissues but in none of paired non-cancerous tissues.The median methylation rate in CRC tissues was 55.7% (range: 6.1-97.8%). TL was negatively correlated withPCDH10promoter methylation (r=-0.42, p=0.0002).
Conclusions: these results suggest a pivotal role of telomere shortening and PCDH10methylation in CRC tissues.TL may be seen as a potential biomarker in CRC diagnostics.

TAG: telomere length   colorectal cancer   promoter methylation  
Biochimica Clinica 2019; 43(3) 278-283
DOI: DOI: 10.19186/BC_2019.019
Pubblicato online il: 16.04.2019
Contributi Scientifici - Scientific Papers
Procalcitonin levels in Sjögren syndrome

Background: procalcitonin (PCT) is a polypeptide secreted as a response a bacterial stimulus. PCT serumconcentrations are increased also in some autoimmune diseases. At the best of our knowledge, there is no study inliterature that evaluated PCT values in patients with primary Sjögren’s syndrome (pSS). The aim of this paper is tomeasure PCT values in pSS and to determine if these are related to the disease activity.
Methods: this is a case-control study. Two groups of subjects were included: 48 patients with pSS, who met AmericanCollege of Rheumatology 2012 Classification Criteria for Sjögren's syndrome and 53 healthy subjects as controlgroup (without any acute or chronic disease). The subjects with possible infectious disease were excluded on thebasis of their clinical evaluation and laboratory data. Serum PCT values were measured by electrochemiluminometricmethod. PCT values have been compared between the groups; the correlation between disease activity, measuredby Sjögren’s syndrome disease activity index (SSDAI) and PCT levels was evaluated.
Results: PCT values in pSS group were within the reference range, but significantly higher than those measured inthe control group [median (interquartile range) values were 0.036 ng/mL (0.031-0.044) and 0.020 ng/mL (0.020-0.020) respectively], (p<0.001). No correlation was found between disease activity and PCT values (p=0.63).
Conclusions: on the basis of the presented results, PCT could be a candidate marker for differentiating diseaseactivity from the presence of an infection in pSS patients. Future studies in pSS patients with infectious diseasescould possibly demonstrate the role of PCT in this context.

TAG: Procalcitonin   Sjögren’s syndrome   disease activity  
Biochimica Clinica 2019; 43(3) 284-288
DOI: DOI: 10.19186/BC_2019.020
Pubblicato online il: 16.04.2019
Contributi Scientifici - Scientific Papers
Galectin-3 and Lp(a) plasma concentrations and advanced carotid atherosclerotic plaques: correlation with plaque presence and features

Introduction: atherosclerosis is one of the leading causes of death and morbidity worldwide. It consists in thedevelopment of plaques in the intima media layers of arteries due to lipid accumulation and oxidation, causingmassive inflammation. We aim to better understand the role of Galectin-3 (Gal-3) and Lipoprotein(a) [Lp(a)] aspossible peripheral markers of plaque presence.
Methods: Gal-3 and Lp(a) were measured in plasma samples from 99 patients undergoing carotid endarterectomyand 78 healthy controls, by immunometric assays. Plaques were classified histologically, according to the AmericanHeart Association (AHA) guidelines as type Va (fibroatheroma), Vb (mainly calcific) and Vl (complicated lesion).
Results: Gal-3 and Lp(a) plasma levels are higher in patients compared to controls [19.8 ng/mL (SD 5.8) vs 14.0ng/mL (3.6)], p<0.0001 and 8.4 mg/dL (IQR 4.0-25.1) vs 4.7 mg/dL (2.4-12.7), p=0.0003, respectively). Analysis ofROC curves confirmed the discriminating power of these markers obtaining an area under the curve of 0.806(p<0.0001) for Gal-3 and 0.657 (p=0.0001) for Lp(a). At multivariate logistic regression, Gal-3 and Lp(a) plasma levelswere associated with plaque presence independently of each other as well as of age, sex, LDL-C levels and previousmyocardial infarction with an odds ratio of 1.22 (95%CI 1.08-1.38, p=0.002) and 1.05 (1.00-1.09, p=0.048)respectively. No differences of Gal-3 and Lp(a) plasma levels were observed among the plaque types.
Conclusion: our data showed that Gal-3 and Lp(a) are reliable markers of advanced atherosclerotic plaques. Theabsence of differences among the different lesion types suggests that the increase of Gal-3 and Lp(a) is independentof the specific plaque features.

TAG: Galectin-3   Lipoprotein(a)   atherosclerosis  
Biochimica Clinica 2019; 43(3) 289-295
DOI: 10.19186/BC_2019.025
Pubblicato online il: 10.06.2019
Contributi Scientifici - Scientific Papers
Medicina di Laboratorio e Medicina d’Urgenza: il connubio continua
Laboratory medicine and emergency medicine: a perpetual relationship.

The essential goals that laboratorymedicine shall pursue to adequately fulfill clinical needs can be summarized in delivering high quality information,availability of clinically usable tests and turnaround time. The governance of urgent laboratory testing encompassesa harmonious integration of clinical needs and laboratory organization. Clinical laboratories shall hence be morefocused on the pre-preanalytical phase, be involved in proactive efforts for standardizing pre-analytical and analyticalprocedures, optimize the post-analytical and post-post-analytical phases, thus providing a complete information andallowing the achievement of favorable outcomes. Throughout this ample and multifaceted process, the strictcooperation between laboratory professionals and emergency physicians is pivotal. As rationale follow-up of thecollective article published concomitantly with the first joint Academy of Emergency Medicine and Care (AcEMC) -Italian Society of Clinical Biochemistry and Clinical Molecular Biology (SIBioC) meeting, this new collective paperaims to summarize the topics discussed during the second joint event “Laboratory Medicine and EmergencyMedicine: a resumed link”, specifically including the governance of urgent tests, acid-base disorders, venousthromboembolism, acute heart failure, trauma, acute intoxications, viral diseases and other emerging infections.

TAG: medicina di laboratorio   medicina d’urgenza   analisi  
Biochimica Clinica 2019; 43(3) 296-304
DOI: 10.19186/BC_2019.017
Documenti - DOCUMENTS
Ridurre l’inappropriatezza in medicina di laboratorio: come, quando e perchè
Improving appropriateness in laboratory medicine: how, when and why

The issue of the appropriateness in laboratory medicine has been discussed from several years in association to theparallel onset of two aspects: 1) the significant increase in tests demand and utilization, thanks to the developmentof laboratory automation and information laboratory systems (LIS), that allow to provide timely and reliable results toclinicians; 2) the opportunity, thanks to new pathophysiological knowledge and new technologies to introduce newand more sophisticated tests in clinical practice, providing a relevant support to the clinician in the management ofpatients, according to the improved vision of personalized medicine. As a consequence, the potentialinappropriateness in test utilization and the need to manage demand and to reduce the redundant testing havereceived increasing concern. Several papers, in the recent literature, demonstrated that the inappropriateness inlaboratory test utilization may represent a potential source of errors, and interesting strategies have been proposedand progressively adopted in order to limit this problematic outcome. An essential issue is to assure appropriatenessnot only in test request, but in all steps of the testing cycle. In particular, some of the more relevant issues has beenlinked to: rationalization of laboratory test ordering prescription, thanks to development of a computerized clinicaldecision support systems; implementation of the reflexing tests rule; definition of the minimum retesting intervalaccording to the clinical and pathophysiological criteria; timely revision of the available panel tests in order to deletethose considered obsolete from clinical and analytical point-of-view and, finally, improving the education in demandmanagement. The “clinical laboratory stewardship” seems to be the new and shared strategy, that guarantees notonly the appropriate utilization and interpretation of laboratory tests improving efficacy and providing efficiency but,more importantly, the future of the discipline and the role of laboratory professionals in the context of new and morecomplicated clinical and economical scenarios.

TAG: Appropriatezza   Esami di Laboratorio   Qualità in Medicina  
Biochimica Clinica 2019; 43(3) 305-312
DOI: 10.19186/BC_2019.009
Pubblicato online il: 22.02.2019
Documenti SIBioC - SIBioC Documents
La variabilità preanalitica in coagulazione
Pre-analytical issues in coagulation testing

Poor standardization of preanalytic variables influences greatly thereliability of coagulation testing, consuming health care resources and compromising patient outcomes. Thesevariables include patient preparation, sample collection, handling, transportation, processing, and storage until timeof analysis: lack of standardized procedures for sample collection accounts for most of the errors encountered withinthe total testing process. Most pre-analytical problems may arise from system faults and insufficient audit of theoperators involved in specimen collection and handling, leading to unsuitable specimens due to misidentification,hemolysis, clotting, inappropriate volume, wrong container, contamination from the infusive route. Detection,acknowledgement and management of pre-analytical variables, is mandatory for delivering accurate laboratoryresults. The present document, issued by the Study Group on Haemostasis of the Italian Society of LaboratoryMedicine, is a summary of the recommendations for standardisation of the pre-analytical phase of the coagulationtesting, related to sample collection, transportation, and storage and provides guidance to reduce the effects of pre-analytical issues that can have a significant impact on patient care.

TAG: Emostasi   emolisi   fase preanalitica  
Biochimica Clinica 2019; 43(3) 313-326
DOI: 10.19186/BC_2019.024
Pubblicato online il: 29.04.2019
Documenti SIBioC - SIBioC Documents
Interferenza da biotina negli immunodosaggi: raccomandazioni del Gruppo di Studio SIBioC sulla Variabilità Extra-Analitica (SIBioC-VEA)
Biotin interference in immunoassays: recommendations of the SIBioC Working Group on Extra-AnalyticalVariability (WG-VEA).

Biotin is a water-soluble vitamin, which participates to a vast array of metabolic pathwaysinvolving fatty acids, carbohydrates and amino acids metabolism. This vitamin is also capable to form high-affinitybonds with various molecules, including streptavidin and avidin, which are essential components of manyimmunoassays based on the principle of biotin-streptavidin or biotin-avidin binding. In patients assuming high dosesof biotin, therefore, some competitive and non-competitive immunoassays may exhibit falsely increased and falselydecreased test results, respectively, with magnitude of interference depending on biotin concentration in the testsample and on specific vulnerability of the immunoassay. With the aim to provide some expert guidance foridentifying, preventing and managing biotin interference in clinical laboratory practice, this document contains a seriesof consensus recommendations endorsed by the Working Group on Extra-Analytical Variability of the Italian Societyof Clinical Chemistry and Clinical Molecular Biology (SIBioC). Briefly, the most important recommendationsencompass local evaluation of possible biotin interference, routine history taking on biotin intake for both inpatientsand outpatients, informing clinicians on potentially biotin-sensitive immunoassays, sample retesting 24-48 hours afterthe last biotin administration, along with possible consideration to add a note in the laboratory report highlighting themethods more vulnerable to biotin interference. Routine biotin measurement in all samples is currently discouraged.

TAG: interferenza analitica   biotina   immunoassay  
Biochimica Clinica 2019; 43(3) 327-331
DOI: 10.19186/BC_2019.010
Pubblicato online il: 07.03.2019
Raccomandazioni per l'implementazione del Test genetico BRCA1/2 nelle pazienti con carcinoma ovarico: dall'analisi sul tessuto tumorale a quella su DNA germinale.
Recommendations for the implementation of BRCA1/2testing in ovarian cancer patients: from tumor togermline analysis. Joint document from SIBioC, AIOM, SIGU, SIAPEC-IAP

Since the approval of the first polyadenosine diphosphate (ADP) ribose polymerase inhibitor (PARPi), olaparib for platinum-sensitive relapsed highgrade ovarian cancer, with either germline or somatic BRCA1/2deleterious variants, the strategies for BRCA1/2testing are dynamically changing. In fact, along with germline assay, patients are now tested for tumor BRCA1/2alsoabove all for treatment decisions. In fact, it is reported as by tumor BRCA analysis we can identify 3–9% moremutated women which can therefore benefit from PARPi therapy. Although this new type of approach looks likechallenging, in particular due to the technical and analytical difficulties regarding low quality DNA deriving fromformalin-fixed paraffin-embedded specimens, the new CE-IVD on NGS-based pipelines, can overcome these issues,allowing specialized molecular laboratories to ensure high quality results and perform the best test settings.Nevertheless, each new NGS pipeline (CE-IVD or in house) should be validated using peculiar samples along withcommercially available reference and certified materials, before being introduced in routine settings. The validationset should be appropriately chosen in order to provide unequivocal data regarding robustness of each NGStBRCApipeline. Therefore, in order to harmonize the patient and laboratory path, a group of Italian Scientific Societies[Italian Society of Clinical Chemistry (SIBioC), Italian Association of Medical Oncology (AIOM), Italian Association ofClinical Pathology (SIAPEC), Italian Society of Human Genetics (SIGU)] provided the present recommendationswhich are aimed to guide all professionals (oncologists, gynaecologists, clinical and laboratory geneticists, clinicalmolecular biologists and pathologists). The intersociety group is confident that the present paper can offer all ovariancancer women a well-organized pathway of diagnosis and treatment.

TAG: Indagine genetica   neoplasia ovarica   geni BRCA  
Biochimica Clinica 2019; 43(3) 332-338
DOI: 10.19186/BC_2019.026
Pubblicato online il: 29.04.2019
Documenti SIBioC - SIBioC Documents
Oncologia di precisione: la terminologia è importante.
Precision oncology: when the metrics does matter.

Precision oncology can be considered as the application of "Precision Medicine" to the management of cancerpatients. Although this new chapter of the modern medicine is really exciting and many clinicians and researchers arespending some efforts in the setting of tests and clinical trials able to identify new potential biomarkers, theidentification of the specific oncogenic mutation driving the tumor growth and giving a chance of target-selective drug,still remains challenging. Sometimes the term precision medicine as wee as precision oncology can be consideredtoo simplistic: in practice, indeed, some important issues like the genetic heterogeneity of tumors, the complexity ofpathways used by different tumors, and the inevitable development of drug resistance, are not considered as a partof complete patients’ disease evolution. Therefore, in order to guide clinicians and laboratory community to harmonizethe metrics surrounding the precision oncology path, a glossary has been defined by an intersociety group. Thepresent joint document has been elaborated by the following scientific societies: Italian Society of Clinical Chemistry(SIBioC), Italian Association of Medical Oncology, Italian Association of Clinical Pathology (SIAPEC), Italian Societyof Farmacology (SIF) and is aimed to allow the research and clinical communities to familiarize with new conceptsand terminologies which are not often well defined. We underline as, in the management of the paths related to theprecision oncology, the terminology is fundamental, both for the scientific aspects and for those related to thecommunication with the patients. Therefore, below is a glossary that can be useful to all specialists in the clinical area,basic and translational research.

TAG: Oncologia di precisione   Farmacologia molecolare   Metodologia  
Biochimica Clinica 2019; 43(3) 339-347
DOI: 10.19186/BC_2019.027
Pubblicato online il: 29.04.2019
Documenti SIBioC - SIBioC Documents
Esame emocromocitometrico: telemedicina e competenze
S. Buoro  |  G. Da Rin  | 
TAG: striscio di sangue   blasti   ematologia    
Biochimica Clinica 2019; 43(3) 348-350
DOI: 10.19186/BC_2019.056
Pubblicato online il: 12.07.2019
Lettere all'Editore - Letters to the Editor
Sofferenza tubulare in un paziente con recente trapianto di rene
Tubular disfunction in a patient with a recent kidney transplant

The case reports about a patient who underwenta kidney transplantation for chronic disease of unknown cause. The clinical course showed a delayed graft functionand acute tubular necrosis. Urine microscopy confirmed a tubular disfunction: presence of renal epithelial cells,cylindruria and crystals. The microscopy images showed brownish-colored crystals that, under polarized light,suggested a 2.8-dihydroxyadenine (DHA) urolithiasis, rare and underdiagnosed pathology, due to the deficiency ofadenine-phosphoribosyltransferase (APRT). The specific analysis, i.e. the determination of the enzyme activity onerythrocyte lysate, did not confirm our initial hypothesis, excluding de facto a DHA urolithiasis. Analysis of purine andpyrimidine profile confirmed the presence of a purine dysmetabolism. The patient was treated with allopurinol, whichimproved the clinical picture. This case underlines the need for more extensive studies of crystal and/or metabolicnephropathies before renal transplantation. The microscopy study was however useful to trigger investigations thathave then influenced the therapy and the clinical progress of the patient.

TAG: Nefropatia   sedimento urinario   adenina fosforibosil transferasi  
Biochimica Clinica 2019; 43(3) e25-e27
DOI: 10.19186/BC_2019.038
Pubblicato online il: 23.05.2019
Casi Clinici - Case Report
Una malattia neurologica di difficile inquadramento
A neurological disease difficult to classify

We describe a case of a 32 year old woman visiting to the NeurologyUnit with progressive bi-frontal headache and reduced visual acuity followed by disequilibrium and dysarthria.
Cerebrospinal fluid (CSF) analysis documented pleyocitosis with slight CSF-blood-barrier damage.
Routine laboratory tests that were all negative except for the presence of serum anti-myelin oligodendrocyteglycoprotein (MOG) antibody.
Thanks to the laboratory test results, neurologists could classified the patient as a case of encephalomyelitis anti-MOG antibody related and have treated her with methylprednisolone followed by Rituximab with clinical improvementand reduction of brain lesion.
Anti-MOG antibody associated to encephalomyelitis is currently considerated as a distinct nosologic entityimmunopathogenetically identifiable among the neuromyelitis spectrum disorders.
The case illustrated here underlines the central role of the clinical laboratory for the correct diagnosis of demyelinatingnervous system diseases.

TAG: Encefalomielite   disartria   rituximab  
Biochimica Clinica 2019; 43(3) e28-e30
DOI: 10.19186/BC_2019.055
Pubblicato online il: 04.07.2019
Casi Clinici - Case Report
La ricerca degli anticorpi anti-nucleo non è sempre di facile interpretazione
Anti-nucleus antibodies detection is not always easy to interpret

Antinuclear antibodies (ANA) displaying densefine speckled pattern on HEp-2/HEp-2000 cells are frequently observed in clinical laboratory, often associated withanti-DFS70 antibodies. Anti-DFS70 positive patients rarely develop systemic autoimmune rheumatic disease,especially in the absence of clinical evidence or additional antibodies.
A 60-years old woman complaining severe muscle weakness of the legs was tested positive for dense fine speckledANA pattern by indirect immune-fluorescence. Immunoblot analysis revealed the presence of anti-DFS70 antibodies.Positivity for anti-dsDNA antibodies, not revealed by immunoblot, was also found by Crithidia luciliae(CL). All theresults were confirmed by a different laboratory.
This case underlines the complex interpretation of a laboratory scenario where anti-DFS70 possibly coexist with muchmore specific and clinically relevant ANA. The discrepancies (observed in both laboratories) between CL and theother methods is puzzling, and may be due to different reasons, including false positive CL results or interference.

TAG: Patologie reumatiche   anticorpi   immunofluorescenza indiretta  
Biochimica Clinica 2019; 43(3) e31-e35
DOI: 10.19186/BC_2019.054
Pubblicato online il: 04.07.2019
Casi Clinici - Case Report