Laboratoriumsmedizin-Journal of Laboratory Medicine最新文献

{"title":"Expression of connexin 32 and connexin 43 in the cerebral cortex of patients with refractory epilepsy","authors":"Lichao Sun, Lizhi Zhang, Junqiang Feng, Jiqing Qiu, Weihong Lin","doi":"10.1515/labmed-2015-0064","DOIUrl":"https://doi.org/10.1515/labmed-2015-0064","url":null,"abstract":"Abstract Background: This study aimed to examine the expression of the gap junction proteins connexin 32 (CX32) and connexin 43 (CX43) in the epileptic foci of the brain in patients with refractory epilepsy, in order to provide insight into the pathogenesis and treatment of refractory epilepsy. Methods: The experimental group consisted of 30 patients with refractory epilepsy who received surgical treatments. The control group consisted of six patients with traumatic brain injuries who underwent emergency surgery. Expression of CX32 and CX43 was assessed by immunohistochemistry and immune electron microscopy of surgically extracted brain epileptic foci and compared with that in brain tissues of the control group. Results: The expression of CX32 and CX43 was significantly higher in the experimental group than that in the control group (p<0.001). Significantly more colloidal gold particles-labeled CX32 and CX43 were observed on the membranes of nerve cells in the experimental group than in the control group. Conclusions: Brain epileptic foci show increased CX32 and CX43 expression, suggesting that gap junctions formed by CX32 and CX43 may contribute to the incidence and progression of epilepsy.","PeriodicalId":49926,"journal":{"name":"Laboratoriumsmedizin-Journal of Laboratory Medicine","volume":"43 1","pages":"33 - 40"},"PeriodicalIF":0.0,"publicationDate":"2017-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80841620","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Der Einfluss von Geschlecht, Body-Mass-Index und Alter auf das Ergebnis des 2 mg Dexamethason-Kurzzeit-Suppressionstestes","authors":"Benjamin Sandner, J. Kratzsch","doi":"10.1515/labmed-2017-0004","DOIUrl":"https://doi.org/10.1515/labmed-2017-0004","url":null,"abstract":"Zusammenfassung Hintergrund: Der Dexamethason-Kurzzeit-Suppressionstest (DST) wird als Screeningverfahren in der Diagnostik des Cushing-Syndroms (CS) angewendet. Allerdings können Faktoren wie die variable Resorption, sowie ein gesteigerter Metabolismus von Dexamethason (DXMS) die Testergebnisse beeinflussen und zu falsch positiven Resultaten führen. Das Ziel dieser Studie war es daher den Einfluss von Geschlecht, Body-Mass-Index (BMI) und Alter auf den DXMS-Metabolismus zu untersuchen. Methoden: Bei insgesamt 183 Testpersonen wurde ein regulärer 2 mg DST durchgeführt. Nach Ausschluss von Patienten (Pat) mit CS, Depression, Störungen der Leber- und Nierenfunktion, sowie Pat unter Medikation mit Cyp3A4-modulierenden Pharmaka, erfolgte die statistische Auswertung der Daten von 72 Pat und 66 gesunden Testpersonen. Zur pharmakokinetischen Charakterisierung von DXMS und CORT wurden bei 11 Pat zusätzlich nächtliche Blutentnahmen (1, 3, 5, 7 Uhr) durchgeführt. Ergebnis: Im Rahmen des DST wurde eine ausgeprägte interindividuelle Variabilität der DXMS-Konzentration gefunden, welche invers mit dem BMI korrelierte (r=–0,24, p=0,045). Passend hierzu wiesen nicht-adipöse Pat (BMI<30 kg/m2, n=29) im Vergleich mit adipösen Pat (BMI>30 kg/m2, n=43) im Mittel signifikant höhere morgendliche DXMS-Werte auf (1,66±0,71 ng/mL vs. 1,31±0,57 ng/mL, p=0,026). Das simultan gemessene CORT korrelierte weder mit dem BMI noch mit der DXMS-Konzentration. In der Analyse der Pharmakokinetik wurde die maximale DXMS-Konzentration um 3 Uhr erreicht. Danach sank DXMS kontinuierlich auf 59,1% des medianen Spitzenwertes ab (8 Uhr). Die morgendlichen DXMS-Werte korrelierten mit der DXMS-AUC (r=0,75, p=0,013), jedoch bestand keine Korrelation zwischen den morgendlichen CORT-Spiegeln und den nächtlichen DXMS-Werten zu sämtlichen Blutentnahmezeitpunkten. Schlussfolgerung: Im Rahmen des DST besteht die Möglichkeit, dass BMI-Unterschiede Einfluss auf die Resorptionsrate und den Metabolismus von DXMS nehmen und damit die DXMS-Konzentration wesentlich verringern können. Dies scheint allerdings keinen Einfluss auf die CORT-Suppression im DST zu haben. Aufgrund dessen ist davon auszugehen, dass der DST als zuverlässiges Screeningverfahren bei adipösen Pat mit Verdacht auf CS einzustufen ist.","PeriodicalId":49926,"journal":{"name":"Laboratoriumsmedizin-Journal of Laboratory Medicine","volume":"11 1","pages":"13 - 22"},"PeriodicalIF":0.0,"publicationDate":"2017-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85114204","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Overexpression of interferon-γ and indoleamine 2, 3-dioxygenase in systemic lupus erythematosus: relationship with the disease activity","authors":"S. Mohammadi, S. Sedighi, A. Memarian, Y. Yazdani","doi":"10.1515/labmed-2016-0076","DOIUrl":"https://doi.org/10.1515/labmed-2016-0076","url":null,"abstract":"Abstract Background: Indoleamine 2, 3-dioxygenase (IDO) is a tryptophan catabolizing enzyme which is involved in immune regulation and autoimmune disorders such as systemic lupus erythematosus (SLE). Interferon-γ (IFN-γ) is an inflammatory cytokine which is the major inducer of IDO expression. Here, we evaluated the level of IFN-γ and IDO among SLE patients in correlation with the severity of SLE. Methods: Fifty-three SLE patients and 35 age matched healthy donors were enrolled in this study. Systemic lupus erythematosus disease activity index (SLEDAI) was used to calculate the disease activity. Real-time RT-PCR and ELISA were used to evaluate the gene expression of IDO and IFN-γ plasma concentration, respectively. Results: We showed that IDO-1, IDO-2 and IFN-γ were overexpressed among SLE patients significantly (p<0.0001). There were significant positive correlations between IFN-γ with the expression of IDO-1 (r=0.722, p<0.0001) and IDO-2 (r=0.682, p<0.0001). There were also positive correlations between SLEDAI scores with IDO-1 (r=0.675, p<0.0001), IDO-2 (r=0.727, p<0.0001) and IFN-γ (r=0.907, p<0.0001). Conclusions: IDO expression and IFN-γ level could be introduced as helpful biomarkers for the determination of disease severity in SLE patients.","PeriodicalId":49926,"journal":{"name":"Laboratoriumsmedizin-Journal of Laboratory Medicine","volume":"60 1","pages":"41 - 47"},"PeriodicalIF":0.0,"publicationDate":"2017-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74391284","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mangelnde Eisenverfügbarkeit: Welche Laboruntersuchungen anfordern und wie klinisch interpretieren? https://degruyter.instruct.eu","authors":"L. Thomas, Christian Thomas","doi":"10.1515/labmed-2017-0083","DOIUrl":"https://doi.org/10.1515/labmed-2017-0083","url":null,"abstract":"Zusammenfassung: Traditionell wird eine mangelnde Eisenverfügbarkeit häufig erst im Rahmen einer klinisch relevanten Eisenmangelanämie diagnostiziert. Zu diesem Zeitpunkt besteht entweder ein totaler Eisenmangel oder das Eisen ist Inflammations-bedingt in Makrophagen sequestriert und steht den Funktionsstellen nicht zur Verfügung. In beiden Fällen kann die Therapie langwierig und anspruchsvoll sein. Jedoch kann auch ohne klinisch relevante Anämie die Eisenverfügbarkeit vermindert sein, z.B. bei Patienten mit chronischer Herzinsuffizienz, transient intraoperativ nach Blutverlust, bei Mehrfach-Blutspendern oder Frauen im gebärfähigen Alter. Die mangelnde Eisenverfügbarkeit kann mit subklinischem Eisenmangel, totalem Eisenmangel, Eisen-restriktiver Erythropoese, meist in Kombination mit der Anämie chronischer Erkrankungen assoziiert sein, oder Therapie-bedingt als funktioneller Eisenmangel vorliegen. Die Inflammations-bedingte Sequestration von Eisen ist bei Patienten mit chronischer Erkrankung, z. B. bei schwerer Herzinsuffizienz, eine wichtige Ursache für eine prälatente Anämie und damit verbundener Verminderung der Lebensqualität. Vor Therapie ermöglicht die Bestimmung biochemischer Marker, hämatologischer Indices oder die Anforderung multivariabler Systeme (diagnostischer Eisenblot, Eisenscore) die Diagnose einer mangelnden Eisenverfügbarkeit im prälatenten Stadium. In der Vergangenheit wurde die Diagnose des Eisenmangels häufig erst im Rahmen einer klinisch relevanten Anämie diagnostiziert. Ferritin und die Transferrinsättigung waren die wesentlichen Untersuchungen. Neuere Tests ermöglichen die frühzeitige Diagnose einer mangelnden Eisenverfügbarkeit, so daß diese therapiert werden kann bevor sich das Vollbild einer klinisch relvanten Eisenmangelanämie darstellt. Dies bietet sich insbesondere für Personengruppen an, die ein erhöhtes Risiko für eine Eisenmangelanämie haben. Abstract The diagnosis of reduced availability of iron is based on the diagnosis of anemia according to traditional perspectives. In most cases, iron is not available to the tissues because of inflammation-induced sequestration in macrophages or total iron deficiency. Therapy can be troublesome and protracted. The reduced availability of iron in the absence of anemia can be present in patients with chronic heart failure, transient in surgical patients after blood loss, in frequent blood donors, and in women of childbearing age. Subclinical iron deficiency, total iron deficiency, iron-restrictive erythropoiesis associated with the anemia of chronic disease and functional iron deficiency by therapy with erythropoiesis-stimulating agents are the main causes of reduced availability of iron. The sequestration of iron (impaired iron trafficking), e.g. in patients with chronic heart failure, is an additional frequent determinant of impaired quality of life. Before planning an iron-correction phase, biochemical markers and hematological indices or multivariable systems (diagnostic ir","PeriodicalId":49926,"journal":{"name":"Laboratoriumsmedizin-Journal of Laboratory Medicine","volume":"53 1","pages":"273 - 284"},"PeriodicalIF":0.0,"publicationDate":"2017-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81244935","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluation and implementation of the STA R Max® hemostaseology analyzer in the central laboratory of a major hospital","authors":"B. Hofmann, C. Schröder, Niels Geisler, G. Stamminger","doi":"10.1515/labmed-2017-0056","DOIUrl":"https://doi.org/10.1515/labmed-2017-0056","url":null,"abstract":"Abstract Due to a change of provider at Zentrum für Diagnostik at Klinikum Chemnitz a comprehensive validation of the STA R Max® analyser from Stago was undertaken. Alongside intra-assay and inter-assay determinations, a broad range of comparative measurements using pooled patient plasma were also carried out against the previous routine method (BCS XP from Siemens). Results obtained from routine and emergency sample testing are presented in this publication. Good to very good results were observed which allowed for a swift switchover in systems. Furthermore, user friendliness, reagents, turnaround times (TAT) and general susceptibilities of the new system were evaluated. After various adaptations to the diagnostic process, the transition to routine operation successfully took place.","PeriodicalId":49926,"journal":{"name":"Laboratoriumsmedizin-Journal of Laboratory Medicine","volume":"21 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2017-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86634525","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Influence of sex, body mass index and age on the results of the 2-mg overnight dexamethasone suppression test","authors":"B. Sandner, J. Kratzsch","doi":"10.1515/labmed-2017-0024","DOIUrl":"https://doi.org/10.1515/labmed-2017-0024","url":null,"abstract":"Abstract Background: The overnight dexamethasone suppression test (DST) is routinely used in establishing the diagnosis of Cushing’s syndrome. However, factors such as variable resorption and increased metabolism of dexamethasone (DXMS) could lead to false positive results. The aim of our study was to evaluate the influence of sex, body mass index (BMI) and age on the DXMS metabolism. Methods: In total, 183 subjects were enrolled in a regular 2 mg DST. Patients with Cushing’s syndrome, depression, renal or hepatic insufficiency and patients treated with liver enzyme modulating pharmaceuticals were excluded from this study, so that 72 patients and 66 healthy subjects were analyzed. Nocturnal blood withdrawals were performed in 11 adult subjects at 1:00 AM, 3:00 AM, 5:00 AM, 7:00 AM, 8:00 AM to evaluate the kinetic of DXMS and cortisol. Results: In the DST DXMS levels demonstrated a high variation at 8:00 AM, that was inversely correlated with BMI (r=−0.24, p=0.045). Furthermore, DXMS levels determined in patients with a BMI<30 kg/m2 (n=29) were significantly higher than values of obese patients with a BMI>30 kg/m2 (n=43) (1.66±0.71 ng/mL vs. 1.31±0.57 ng/mL, p=0.026). Cortisol levels, measured at the same time, were neither correlated with DXMS nor with BMI values. In the kinetic study, maximal DXMS concentration was measured at approximately 3:00 AM. At 8:00 AM, median of DXMS was reduced to 59.1% and was correlated directly with the DXMS AUC (r=0.75, p=0.013). However, there was no correlation between the cortisol levels at 8:00 AM and the nocturnal DXMS concentrations. Conclusions: In the DST BMI of individual patients could modulate the resorption rate and metabolism of DXMS but appears to have no impact on cortisol levels. Therefore, obesity should not be a cause of falsely positive results in the DST.","PeriodicalId":49926,"journal":{"name":"Laboratoriumsmedizin-Journal of Laboratory Medicine","volume":"2674 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2017-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76130201","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Infections after renal transplantation","authors":"S. Dasdelen, S. Grebe","doi":"10.1515/labmed-2017-0094","DOIUrl":"https://doi.org/10.1515/labmed-2017-0094","url":null,"abstract":"Abstract Renal transplantation is the treatment-of-choice for a significant number of patients with end-stage renal disease. Prophylaxis, diagnosis and treatment of infections are cornerstones in the management of transplant patients. There are a number of opportunistic and rare pathogens in the immunosuppressed transplant patient population, whose early detection is essential for an optimized and targeted treatment. As the immunosuppressive regimen is adopted after transplantation and due to a potentially delayed reactivation of latent diseases, certain infections can occur in defined time intervals following transplantation. The present review summarizes the common and some of the rare diseases caused by the broad microbiological spectrum in kidney transplant recipients and the respective therapeutic options.","PeriodicalId":49926,"journal":{"name":"Laboratoriumsmedizin-Journal of Laboratory Medicine","volume":"100 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2017-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76267293","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The zlog value as a basis for the standardization of laboratory results","authors":"Georg F. Hoffmann, F. Klawonn, R. Lichtinghagen, M. Orth","doi":"10.1515/labmed-2017-0135","DOIUrl":"https://doi.org/10.1515/labmed-2017-0135","url":null,"abstract":"Abstract Background: With regard to the German E-Health Law of 2016, the German Society for Clinical Chemistry and Laboratory Medicine (DGKL) has been invited to develop a standard procedure for the storage and transmission of laboratory results. We suggest the commonly used z-transformation. Methods: This method evaluates by how many standard deviations (SDs) a given result deviates from the mean of the respective reference population. We confirm with real data that laboratory results of healthy individuals can be adjusted to a normal distribution by logarithmic transformation. Results: Thus, knowing the lower and upper reference limits LL and UL, one can transform any result x into a zlog value using the following equation: zlog=(log(x)–(log(LL)+log(UL))/2)·3.92/(log(UL)– log(LL)) $eqalign{ {rm{zlog}} = & {rm{(log(x)}}-{rm{(log(LL)}} + {rm{log(UL))/2)cdot3}}{rm{.92/(log(UL)}} cr -{bf{ }}{rm{log(LL))}} cr} $ The result can easily be interpreted, as its reference interval (RI) is –1.96 to +1.96 by default, and very low or high results yield zlog values around –5 and +5, respectively. For intuitive data presentation, the zlog values may be transformed into a continuous color scale, e.g. from blue via white to orange. Using the inverse function, any zlog value can then be translated into the theoretical result of an analytical method with another RI: (1) x=LL0.5−zlog/3.92⋅UL0.5+zlog/3.92 $${rm{x}} = {rm{L}}{{rm{L}}^{0.5 - {rm{zlog}}/3.92}} cdot {rm{U}}{{rm{L}}^{0.5 + {rm{zlog}}/3.92}}$$ Conclusions: Our standardization proposal can easily be put into practice and may effectively contribute to data quality and patient safety in the frame of the German E-health law. We suggest for the future that laboratories should provide the zlog value in addition to the original result, and that the data transmission protocols (e.g. HL7, LDT) should contain a special field for this additional value.","PeriodicalId":49926,"journal":{"name":"Laboratoriumsmedizin-Journal of Laboratory Medicine","volume":"16 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2017-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89436562","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Red blood cell morphology in patients with β-thalassemia minor","authors":"C. Körber, A. Wölfler, M. Neubauer, C. Robier","doi":"10.1515/labmed-2016-0052","DOIUrl":"https://doi.org/10.1515/labmed-2016-0052","url":null,"abstract":"Abstract Background: A systematic analysis of the occurrence of red blood cell (RBC) abnormalities in β-thalassemia minor has not been performed to date. This study aimed to identify and quantify the frequency of RBC abnormalities in patients with β-thalassemia minor. Methods: We examined blood smears of 33 patients with β-thalassemia minor by light microscopy for the occurrence of 15 defined RBC abnormalities. In the case of positivity, the abnormal cells/20 high power fields (HPF) at 1000-fold magnification were counted. Results: Anisocytosis, poikilocytosis and target cells (median 42/20 HPF) were observed in all, and ovalocytes in 32 (96.9%, median 10/20 HPF) subjects. Dacryocytes (81.8%), stomatocytes (81.8%, median 10/20 HPF), elliptocytes (75.8%), cells with basophilic stippling (72.7%) and irregularly contracted cells (63.6%) were frequently, and schistocytes (15.2%), bite cells (6%) and pincer cells (3%) were occasionally found. Conclusions: Morphological abnormalities of erythrocytes are common in peripheral blood (PB) smears of patients with β-thalassemia minor. In this study, anisocytosis, poikilocytosis and target cells were apparent in all, and ovalocytes, elliptocytes, cells with basophilic stippling, dacryocytes, stomatocytes and irregularly contracted cells were observed in the majority of the analyzed slides. Our observations may be useful to improve the differential diagnosis of anemia in clinical laboratory routine.","PeriodicalId":49926,"journal":{"name":"Laboratoriumsmedizin-Journal of Laboratory Medicine","volume":"13 1","pages":"49 - 52"},"PeriodicalIF":0.0,"publicationDate":"2016-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73586234","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Einführung des deutschlandweiten Neugeborenenscreenings für Mukoviszidose","authors":"M. Heinemann, J. Hentschel, Susen Becker, F. Prenzel, C. Henn, W. Kiess, H. Tabori, J. Lemke, U. Ceglarek, J. Thiery","doi":"10.1515/labmed-2016-0062","DOIUrl":"https://doi.org/10.1515/labmed-2016-0062","url":null,"abstract":"Zusammenfassung Die Mukoviszidose oder Cystische Fibrose (CF) ist eine autosomal rezessiv vererbte Stoffwechselerkrankung und mit einer regional schwankenden Inzidenz von ca. 1:3.300–1:5.800 eine der häufigsten angeborenen Stoffwechselerkrankungen in Deutschland. Durch eine mutationsbedingte verminderte oder fehlende Funktion von Chloridkanälen kommt es hier zu einer Veränderung der Sekretzusammensetzung aller exokrinen Drüsen. Die mittlere Lebenserwartung von Mukoviszidose-Patienten konnte durch verbesserte Behandlungsstrategien auf mittlerweile über 40 Jahre erheblich gesteigert werden. Es hat sich dabei gezeigt, dass eine frühzeitige Diagnosestellung einen positiven Einfluss auf Krankheitsverlauf, Lebensqualität und Lebenserwartung der betroffenen Patienten hat. Diese Erkenntnis führte in den letzten 10 Jahren europaweit zur Aufnahme der Mukoviszidose in regionale und nationale Neugeborenenscreening-Programme. Mit dem Beschluss des Gemeinsamen Bundesausschusses zur Einführung des Mukoviszidosescreenings im August 2015 wurde Mukoviszidose nun auch in Deutschland als weitere Zielkrankheit in die Kinderrichtlinien aufgenommen und ist nach Veröffentlichung im Bundesanzeiger somit bundeseinheitlich als Bestandteil des deutschen Neugeborenenscreening-Programms vorgeschrieben. Das Procedere beinhaltet ein Stufenscreening mit der Kombination von Immunreaktivem Trypsin (IRT) und Pankreatitis-assoziiertem Protein (PAP) mit zusätzlicher Mutationsanalytik. Dank einer deutschlandweit früheren Diagnosestellung wird ein verbessertes Langzeitoutcome von Mukoviszidose-Patienten erwartet.","PeriodicalId":49926,"journal":{"name":"Laboratoriumsmedizin-Journal of Laboratory Medicine","volume":"3 1","pages":"373 - 384"},"PeriodicalIF":0.0,"publicationDate":"2016-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80978705","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}