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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

Biomedia srl
Via L. Temolo 4, 20126 Milano

Responsible Editor
Giuseppe Agosta

Editorial Secretary
Andrea di Bello
Biomedia srl
Via L. Temolo 4, 20126 Milano
Tel. 0245498282


ISSN print: 0393 – 0564
ISSN digital: 0392- 7091

Ahead of print

Il percorso comune europeo per la formazione degli specialisti in Medicina di Laboratorio: un traguardo sempre più vicino
TAG: formazione   specialisti   medicina di laboratorio  
Biochimica Clinica
DOI: 10.19186/BC_2021.015
Pubblicato online il: 07.04.2021
Editoriale - Editorial
I biomarcatori di danno renale acuto
Biomarkers of acute kidney injury
S. Samoni  |  S. De Rosa  |  C. Ronco  | 

The diagnosis and follow-up of acute kidney injury (AKI) has traditionally been based on clinical parameters such as urine output, and/or biomarkers such as serum creatinine (sCr), which are not very sensitive. The identification and validation of novel biomarkers, capable of recognizing an increased risk of AKI, a renal damage before or without a functional renal loss (i.e. subclinical AKI) and a renal dysfunction prior to the increase in sCr levels, has reviewed the diagnosis and classification of AKI. Thanks to these biomarkers, a new conceptual model of AKI, that includes the full spectrum of events and conditions, has been developed. At each stage of this model, biomarkers may contribute to explain the mechanisms and to predict the clinical evolution of kidney damage. Several biomarkers have been identified. They differ in anatomical origin, physiological function, kinetics and detecting time after kidney injury.
The present review describes the main biomarkers’ characteristics and their role in the clinical practice.

TAG: biomarcatori   danno renale acuto   disfunzione  
Biochimica Clinica
DOI: 10.19186/BC_2021.011
Pubblicato online il: 30.03.2021
Rassegne - Reviews
Current trends and future directions of liquid biopsy in renal cell carcinoma

Metastatic clear cell renal cell carcinoma is a high vascularized and aggressive tumor characterized by a high intra-tumoral and inter-tumoral heterogeneity. For this reason, despite the wide range of therapy available, these patients often show resistance to chemotherapy. In this scenario, it could be of great benefit the discovery of biomarkers to identify the most suitable treatment for first and second line therapy and the early determination of outcome. Once identified, circulating biomarkers could be introduced in clinical practice and integrated with patient’s clinical features for building a decision algorithm usable by clinicians. The liquid biopsy, defined as the determination in fluids like blood of tumor-released product such as DNA, RNA and protein, exhibits several advantages over tissue biomarkers including a real time correlation with tumor features, lower cost and lower risk for the patient. Our understanding of the liquid biopsy has raised rapidly in the last few years accordingly with the development of new molecular biology techniques. Efforts are under way for the identification of robust and reproducible liquid biopsy assays that could improve soon overall survival (OS) and quality of life of metastatic renal cell carcinoma.

TAG: clear cell renal carcinoma   liquid biopsy   free nucleic acids  
Biochimica Clinica
DOI: 10.19186/BC_2021.012
Pubblicato online il: 25.03.2021
Rassegne - Reviews
Analisi dei livelli trascrizionali di ciclina D1 nello studio delle discrasie plasmacellulari: revisione sistematica della letteratura
Analysis of cyclin D1 mRNA expression levels in plasma cell dyscrasias: a systematic review of published literature

Overexpression of cyclin D1 (CCND1) occurs often in tumoral plasma cells, mainly – but not exclusively – as a result of the presence of the t(11;14) translocation. Of note, CCND1 mRNA overexpression or the presence of the t(11;14) translocation was shown to impact on the response to anti-plasma cell drugs and influence prognosis, both in patients with multiple myeloma and with immunoglobulin light chain (AL) amyloidosis. In this study, we performed a systematic revision of published literature on molecular assays to measure CCND1 transcript levels in plasma cell dyscrasias, in order to describe currently available assays, their technical characteristics and main applications. Relevant scientific articles were search on PubMed as of October 2020 using combinations of appropriate key words. Of 165 unique studies retrieved, 11 articles fulfilled the inclusion criteria and were further analyzed. Overall, 8 different molecular assays were described and characterized. Most of the studies focused on multiple myeloma, with some studies including also MGUS, plasma cell leukemia and/or AL amyloidosis. Assay design, technical validation and field of application of each assay were systematically reviewed. As more knowledge is gained about the impact of CCND1 expression levels on the biology of tumoral plasma cells and their response to anti-plasma cell drugs, including novel agents specifically targeting t(11;14)-positive clones, molecular assays to quantify CCND1 expression levels in tumoral plasma cells may become a useful complementation to molecular cytogenetics, towards a precision medicine approach to diagnose and treat plasma cell disorders which is based on laboratory medicine.

TAG: ciclina D1   translocazione   discrasia plasma cellulare  
Biochimica Clinica
DOI: 10.19186/BC_2021.009
Pubblicato online il: 16.03.2021
Rassegne - Reviews
Emoglobinopatie: quadri clinici e ruolo del laboratorio tra realtà e prospettive future
Hemoglobinopathies: clinical pictures and role of the laboratory between reality and future prospects.

The term hemoglobinopathies generally includes all the defects of the globin genes. In most of the cases, these defects are transmitted as autosomal recessive patterns and are in the heterozygous state, clinically asymptomatic. A substantial variability in hematological and clinical phenotypes is observed when defects occur in the homozygous state, in heterozygous compounds or are associated with variations in non-globin genes. The marked hematological, molecular and clinical heterogeneity of hemoglobinopathies requires experience and competence for the use of different technologies, the organization of the diagnostic procedures and for the clinical management of patients as well. There is no doubt that the numerous hemoglobin variants and different combinations observed nowadays are the result of migratory movements that have taken place in recent decades with the arrival in Italy and Europe of important numbers of subjects, mostly from territories where hemoglobin defects are particularly present. The laboratory tests, defined as 1st level or primary screen, are still the fundamental step of the diagnostic approach to hemoglobinopathies and cannot be avoided. However, confirmatory tests and molecular characterization are always required for a diagnostic approach characterized by the combined use of hematological, biochemical and molecular techniques. The laboratory will thus be able to provide the clinician with adequate elements for patient management, in the different contexts of prevention, counseling or therapeutic choices. The laboratory dedicated to hemoglobinopathies is oriented towards precision medicine by acting on levels of increasing complexity, thus providing useful knowledge for the benefit of personalized medicine.

TAG: emoglobinopatie   medicina di precisione   geni globinici  
Biochimica Clinica
DOI: 10.19186/BC_2020.104
Pubblicato online il: 26.02.2021
Rassegne - Reviews
Il microbiota umano: il buono, il brutto e il cattivo
Human microbiota: the good, the bad and the ugly

In recent years, the development and the huge diffusion of Next Generation Sequencing (NGS)-based techniques has allowed the study of microbial communities at a previously unimaginable resolution level. Consequently, the knowledge of the role and functions of the human microbiota in various body sites has increased, identifying several fundamental roles for the microbiota in the development and maintenance of body homeostasis, also in relation to various ages of life. On the other hand, a number of microbiota qualitative and/or quantitative alterations have been associated with several diseases, and the trend is increasing. Since targeted interventions can modify the microbiota, the definition of its composition in physiological and pathological conditions acquires crucial importance for the development of new diagnostic tools and/or therapeutic approaches aimed at manipulating the microbiota.
In this context, the definition of standardized protocols and common guidelines to study the microbiota, and therefore the role of Laboratory Medicine, appears to be fundamental for the diffusion of metagenomic analyses in diagnostic contexts and will acquire greater relevance in the near future.

TAG: microbiota umano   metagenomica   16SrRNA  
Biochimica Clinica
DOI: 10.19186/BC_2020.103
Pubblicato online il: 23.02.2021
Rassegne - Reviews
Modalità di refertazione del D-Dimero e prestazioni dei sistemi analitici: quali informazioni dal programma di Valutazione Esterna di Qualità del Centro di Ricerca Biomedica
Reporting of D-Dimer and performance of analytical systems: data from participants to the External Quality Assessment Scheme of the Biomedical Research Centre in Italy

Introduction: D-Dimer assessment represents a cornerstone in the diagnostic approach to several thrombotic disorders. Recent literature has highlighted the role of D-Dimer also in the diagnostic pathway of coronavirus infection (COVID-19) and the importance of harmonized reporting [D-dimer unit (DDU) or fibrinogen equivalent unit (FEU); unit of measure; cut-off] in order to guarantee the correct interpretation of the results.
Methods: D-Dimer data from 100 EQA participants and the inter-laboratory variability (CV%) of the last 7 years for the most used analytical systems: Werfen, HemosIL HS; Werfen, HemosIL HS-500; Auto D-D, Sclavo; Innovance, Siemens; VIDAS, bioMérieux and STA Liatest, Stago have been evaluated.
Results: concerning the results expression in DDU or FEU, we observed a prevalence of FEU (55.1%) over DDU (44.9%); the value was confirmed in the last 7 years (average FEU = 55.6%), differently from data obtained in the survey conducted in 2014 at a national level.
The units used are: ng/mL (67.8%), μg/L (29.0%) and mg/L (3.2%) for D-Dimer DDU; ng/mL (57.9%), μg/mL (21.0%), μg/L (15.8%) and mg/L (5.3%) for D-Dimer FEU.
Inter-laboratory variability (mean CV%) calculated on a total of 72 controls is lower for all diagnostic systems at pathological levels than the one observed for concentrations below the cut-off.
Discussion: this study demonstrates that the reporting of D-Dimer results does not comply with the 2014 SIBioC consensus document which recommended the use of μg/L FEU, and highlights 8 different types of information. Data reported in this study call for the harmonization of D-Dimer reporting in order to guarantee the correct interpretation of the information, both in the case of COVID-19 and in all the diseases already known where this analyte has a clinical relevance.

TAG: D-dimero   Armonizzazione   Programmi di Valutazione Esterna di Qualità  
Biochimica Clinica
DOI: 10.19186/BC_2021.018
Pubblicato online il: 14.04.2021
Contributi Scientifici - Scientific Papers
Antibody identification in COVID-19 pandemic: a comparison between immunochemiluminescence and immunochromatography methods

Introduction: in the fight against the COVID-19 pandemic, the determination of the serum antibodies against SARS-CoV-2 is highly relevant, although the reliability of the results delivered is sometimes questionable. The aim of this paper is to evaluate the performances of a rapid immunochromatography test for IgG and IgM antibodies, comparing them with an immunochemiluminescence method.
Methods: we analyzed 357 sera for the presence of IgG anti-SARS-CoV-2 spike proteins S1/S2 with an automated immunochemiluminescent test (DiaSorin®) and the presence of IgG and IgM anti-SARS-CoV-2 nucleocapside protein with an immunochromatography method (LEPU®) based on lateral flow technology.
Results: with Diasorin® method, 248 subjects resulted to be negative and 109 positives, whereas LEPU® test was positive (IgM+ and/or IgG+) in 98 subjects. The overall concordance between LEPU® and DiaSorin®, was 94.1% (95% CI 91.0-96.2). Cohen’s kappa was 0.86 (95% CI 0.80-0.92), indicating good agreement. 21 out of 357 (5.9%) samples had a discordant result and were re-analyzed with a third method (Roche Diagnostics Electrochemiluminescence®): 4 out of 5 DiaSorin® negative/LEPU® positive samples were confirmed as negative by Roche®; conversely, among the 16 DiaSorin® positive/LEPU® negative samples, 5 were confirmed as positive by Roche®, 6 as negative and 5 were not retested due to insufficient sample volume.
Conclusions: despite the methods were designed to detect different antibodies an overall high agreement between techniques was found. Discrepant results were found and were likely due to different antigen targets recognized by methods. The observation that only 6 out of 11 DiaSorin® positive samples were not confirmed by ROCHE®, supports the antigen-dependent hypothesis.

TAG: COVID-19   immunochromatography   point of care  
Biochimica Clinica
DOI: 10.19186/BC_2021.016
Pubblicato online il: 12.04.2021
Contributi Scientifici - Scientific Papers
Potenziale ruolo dell’Human Epididymis Protein 4 come biomarcatore nella nefropatia mesangiale a depositi di IgA
Potential role of Human Epididymis Protein 4 (HE4) as biomarker for IgA Nephropathy

Introduction: Human Epididymis Secretory Protein 4 (HE4) serum concentrations have been widely investigated in patients with ovarian cancer. However, high levels of HE4 can be also found in other tumors and in renal fibrosis. The aim of this study was to assess serum HE4 levels in a cohort of patients with IgA Nephropathy (IgAN) and the correlation of this potential biomarker with the degree of fibrosis.
Methods: the study included 63 Italian patients with histological diagnosis of IgAN (41 males and 22 females) where HE4 was measured at the time of renal biopsy using a chemiluminescent assay (Abbott Laboratories, Wiesbaden, Germany). The biopsy was scored according to the current Oxford classification using MEST score. The relationship between HE4 and each of the MEST parameters was analyzed by a non-parametric method. A ROC curve analysis was performed to assess the diagnostic accuracy of HE4 in identifying the presence of fibrosis.
Results: serum HE4 concentrations were significantly increased across the progressive degrees of fibrosis related T parameter (p <0.0001) [(median; interquartile range (IQR): T0 = 57.5 pmo/L (43.7-100.7); T1 = 106.0 pmo/L (78.0-149.0); T2 = 210.5 pmo/L (148.2-320.2)]. The ROC curve analysis, after adjusting for age and sex, showed that HE4 is diagnostic for the presence of fibrosis with an Area Under the Curve of 0.79 (95%CI: 0.68-0.91).
Conclusions: the relationship between serum level of HE4 and the degree of interstitial fibrosis suggests the potential role of HE4 as useful biomarker in IgAN.

TAG: HE4   nefropatia IgA   fibrosi renale  
Biochimica Clinica
DOI: 10.19186/BC_2021.013
Pubblicato online il: 06.04.2021
Contributi Scientifici - Scientific Papers
Valutazione critica e meta-analisi delle stime di variabilità biologica degli analiti relativi alle patologie renali
Critical appraisal and meta-analysis of biological variation estimates for kidney related analytes

Objective: Kidney markers are some of the most frequently used laboratory tests in patient care, and correct clinical decision making depends upon knowledge and correct application of biological variation (BV) data. The aim of this study was to review available BV data and to provide updated BV estimates for the following kidney markers in serum and plasma; albumin, creatinine, cystatin C, chloride, potassium, sodium and urea.  
Content: Relevant studies were identified from a historical BV database as well as by systematic literature searches. Retrieved publications were appraised by the Biological Variation Data Critical Appraisal Checklist (BIVAC). Metaanalyses of BIVAC compliant studies with similar design were performed to deliver global estimates of within-subject (CVI) and between-subject (CVG) BV estimates. Out of the 61 identified papers, three received a BIVAC grade A, four grade B, 48 grade C, five grade D grade and one was not appraised as it did not report numerical BV estimates. Most studies were identified for creatinine (n=48). BV estimates derived from the meta-analysis were in general lower than previously reported estimates for all analytes except urea. For some measurands, BV estimates may be influenced by age or states of health, but further data are required.  
Summary: This review provides updated global BV estimates for kidney related measurands. For all measurands except for urea, these estimates were lower than previously reported.  
Outlook: For the measurands analyzed in this review, there are sufficient well-designed studies available to publish a trustworthy estimate of BV. However, for a number of newly appearing kidney markers no suitable data is available and additional studies are required.  

TAG: variabilità biologica   obiettivi di qualità analitica   meta analisi  
Biochimica Clinica
DOI: 10.19186/BC_2021.005
Pubblicato online il: 10.03.2021
Contributi Scientifici - Scientific Papers
Valutazione degli anticorpi anti SARS-COV-2 nell’ambito di un progetto di costituzione di una banca di plasma iperimmune
SARS-COV-2 antibodies in patients candidates as donors of immune plasma

Background: in this study SARS-CoV-2 serology was investigated, using three different methods, in a cohort of convalescent patients from SARS-CoV-2 infection, recruited for the establishment of a hyperimmune plasma bank.
Methods: SARS-CoV-2 serology was investigated in 326 subjects using three commercial methods: MAGLUMI (MAG) 2019-nCoV IgM CLIA, MAGLUMI 2019-nCoV IgG CLIA and DiaSorin (SOR) LIAISON SARS-CoV-2 S1/S2 IgG. Moreover, 143 subjects were tested using a plaque reduction micro neutralization assay.
Results: MAG IgG test and SOR IgG test showed a good agreement (Cohen's K index = 0.65, CI 95% 0.55 – 0.78). Considering SOR IgG test versus micro neutralization test, the observed cut-off values were: 85 AU/mL for a neutralizing titer of 1/80; 108 AU/mL for 1/160 titer and 144 AU/mL for 1/320 titer. Considering MAG IgG test versus micro neutralization test, the observed cut-off values were: 4 AU/mL for a neutralizing titer of 1/80, 5 AU/mL for 1/160 titer and 7 AU/mL for 1/320 titer.
Conclusions: in our experience, the MAG and SOR tests showed good agreement in identifying subjects with IgG antibodies to SARS-CoV-2. Obtained results confirmed a good correlation between the antibody concentration detected by the SOR IgG and the neutralizing titer determined by the plaque reduction test.

TAG: anticorpi   SARS-COV-2   plasma iperimmune  
Biochimica Clinica
DOI: 10.19186/BC_2021.008
Pubblicato online il: 26.02.2021
Contributi Scientifici - Scientific Papers
Comparison of albumin-bilirubin grade with Child-Pugh and Model for End Stage Liver Disease scores in chronic liver disease

Introduction: chronic liver diseases are characterized by injury to hepatocytes, chronic inflammation and progressive substitution of liver parenchyma by scar tissue or fibrosis. Albumin-bilirubin grade (ALBI) includes serum albumin and bilirubin levels, two most commonly performed and cost-effective parameters measured in the Clinical Laboratory. This study aims to establish an association between ALBI grade and Model for End stage Liver Disease (MELD) and Child-Pugh (CP) scores among chronic liver disease patients.
Methods: after ethical approval, information such as age, gender, provisional diagnosis, serum albumin and serum total bilirubin levels, prognostic scores of patients with liver disease were obtained from patient records. Albumin-bilirubin grading system was calculated as following: [log10 bilirubin (μmol/L) × 0.66] + [albumin (g/L) × −0.0852].
Results: this cross-sectional descriptive study recruited 100 patients with chronic liver disease and 100 healthy controls. Alcoholism was the common aetiology among the cases. ALBI was calculated; the mean (SD) grade among cases and controls were -0.94 (0.15) and -3.17 (0.23) respectively with a p-value of <0.001.There was statistically significant difference in ALBI grades between CP scores B and C (p value = 0.001). Pearson’s correlation between MELD score and ALBI grade showed a statistically significant correlation (r = 0.723 with significance 0.001).
Discussion: our study demonstrated that there was a significant association between ALBI grade and the most commonly used prognostic scores such as CP and MELD.

TAG: albumin-bilirubin   chronic liver disease  
Biochimica Clinica
DOI: 10.19186/BC_2020.100
Pubblicato online il: 10.02.2021
Contributi Scientifici - Scientific Papers
Comunicare nell’infosfera: sfide e opportunità per la Medicina di Laboratorio
Communicating in the infosphere: challenges and opportunities for Laboratory Medicine

Communication is becoming more important than ever for health care and health care professionals, as the recent COVID-19 pandemic has dramatically highlighted. The fast evolution of the mass and social media and the continuous development of new health-related platforms and applications are imposing new challenges that involve also laboratory medicine and that need to be carefully considered. In fact, these novel, fast and effective strategies of communication are inherently prone to the risk of publishing misleading, incorrect or fake information which can spread uncontrollably and diffuse all over the world in a very short time. However, social media are undoubtedly a great opportunity to communicate, in a responsible and credible way, health-related data and scientific updates and discoveries. As for the therapeutic alliance, it is now required to establish an “information alliance” between different healthcare professionals which, based on a trustworthy relationship, will allow the correct diffusion of health-related information and will contribute to citizens’ education.

TAG: infodemia   disinformazione   misinformazione  
Biochimica Clinica
DOI: 10.19186/BC_2021.017
Pubblicato online il: 08.04.2021
Opinioni - Opinions
Glossario di epidemiologia
Glossary of epidemiology

The COVID-19 pandemic faces the reader of scientific papers with a variety of epidemiologic terms, often not familiar to the reader. A further problem is due to the incomplete standardization of those terms, that can assume partly different meaning in different settings. These problems can hamper the correct comprehension and interpretation of the data presented. These considerations represented the spur to formulate a glossary of the more common epidemiological terms, mainly using the COVID-19 epidemics as example, but taking into account also other infectious diseases and chronic non-infectious diseases as well. To facilitate the reading of the vast majority of papers, which are written in English, the corresponding English terms are reported.

TAG: epidemiologia   malattie trasmissibili   malattie croniche  
Biochimica Clinica
DOI: 10.19186/BC_2021.010
Pubblicato online il: 16.03.2021
Documenti - Documents
Integrità della ricerca: comprendere la nostra comune responsabilità per un sistema accademico sostenibile.
Research Integrity: Understanding our shared responsibility for a sustainable scholarly ecosystem.

This report encourages everyone involved in research to broaden their view of what it means to conduct research with integrity and to consider how certain research evaluation instruments and incentive mechanisms are leading to a rise in deviant publication behavior. Research integrity is a crucial topic for all those involved in the creation, delivery and assessment of academic literature. Without a trusted record of research, it is impossible to reliably build on previous ideas, replicate results, or effectively utilize the outcomes of research. The traditional focus on fabrication, falsification and plagiarism is no longer enough – new forms of manipulation are emerging as some stakeholders seek an unfair advantage. Our report is intended as a guide – first, to expose the range of tactics used; second, to describe our varied and collaborative responsibilities; and third, to highlight current and future technological enhancements that will help us all uphold the principles of research integrity. Many of the tactics we describe are subtle, often manifesting as small infringements, but when accumulated over large quantities, their effects can be substantial and rewarding. The future will be challenging as the digital transformation of research continues to accelerate our progress. Collaboration is essential since no single party can be expected to police and enforce research integrity – it is a shared responsibility that will require us to come together to develop new guidelines on what is considered unethical and decide on the appropriate actions to take when community norms are breached.

TAG: ricerca   sistema accademico sostenibile   pubblicazioni  
Biochimica Clinica
DOI: 10.19186/BC_2021.003
Pubblicato online il: 09.02.2021
Documenti - Documents
Il Percorso Comune di Formazione per Specialisti in Medicina di Laboratorio secondo la Direttiva Europea 2013/55/EC (Il riconoscimento delle qualifiche professionali)
A proposed common training framework for specialists in laboratory medicine under EU directive 2013/55/EC (The recognition of professional qualifications)

European Union (EU) Directive 2013/55/EC (The Recognition of Professional qualifications) allows Member States to decide on a common set of minimum knowledge, skills and competences that are needed to pursue a given profession through a Common Training Framework. To be adopted the framework must combine the knowledge,skills and competences of at least one third of the Member States. Professionals who have gained their qualifications under a Common Training Framework will be able to have these recognised automatically within the Union. Thebackbone of the European Federation of Clinical Chemistry and Laboratory Medicine’s (EFLM) proposed Common Training Framework for non-medical Specialists in Laboratory Medicine is outlined here. It is based on an Equivalence of Standards in education, training, qualifications, knowledge, skills, competences and the professional conduct associated with specialist practice. In proposing the recognition of specialist practice EFLM has identified 15 EU Member States able to meet Equivalence and in whom the profession and/or its training is regulated (an additional EU Commission requirement). The framework supports and contributes to the Directive’s enabling goals for increasing professional mobility, safeguarding consumers and ensuring a more equitable distribution of skills and expertise across the Member States. It represents EFLM’s position statement and provides a template for professional societies and/or competent authorities to engage with the EU Commission.

TAG: formazione   medicina di laboratorio   direttiva europea  
Biochimica Clinica
DOI: 10.19186/BC_2021.014
Pubblicato online il: 07.04.2021
Documenti SIBioC - SIBioC Documents
Un caso di falsa neutropenia
A case of fictitious neutropenia

A 2-month-old newborn was hospitalized for fever, persistent infections, failure to thrive. Complete differential blood count detected a severe neutropenia and monocytosis, associated to an anomalous scatterplot of the hematology analyzer. Blood film review showed that neutrophils had been misclassified as monocytes, due to hypogranulated cytoplasms and nuclear hyposegmentation. Re-analysis on a different hematology platform agreed with the manual differential count. These clinical-morphological features suggested a possible diagnosis of immune deficiency due to lack of neutrophil specific granules. Indeed, Sanger sequencing allowed the detection of a homozygous mutation in SMARCD2 gene, whose alterations very recently had been associated to a similar syndrome, encompassing both hematological and skeletal anomalies. This case shows that a proper interpretation of routine tests can successfully drive the choice of higher-level analysis and led to a prompt diagnosis of a very rare condition. The diagnosis paved the way to a precocious allogeneic hematopoietic stem-cell transplantation that successfully cured the condition of immune deficiency and the hematology abnormalities of the young patient.

TAG: neutropenia   analizzatore ematologico   conta differenziale  
Biochimica Clinica
DOI: 10.19186/BC_2021.019
Pubblicato online il: 15.04.2021
Casi clinici - Case report