Need a White Blood Cell cystine level? - Cystinosis Research Network

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Need a White Blood Cell cystine level? - Cystinosis Research Network

CYST 09-XX Brochure Cystine 100709:Brochure Cystine 16/07/09 17:34 Page 2Need a White Blood Cellcystine level ?CYST 07-12 / Copyright Orphan Europe 2009 - SeeYouSoonOnTheMoon Printed in France


CYST 09-XX Brochure Cystine 100709:Brochure Cystine 16/07/09 17:34 Page 3What is cystinosis ? A lysosomal condition characterised by an accumulation of cystine in the lysosomes. A recessive autosomal inherited metabolic disease. A rare disease estimated to represent 1 case per 100,000 to 200,000 living births. Cystinosis leads to impaired cellular function in most organsand notably in the eye and the kidney.Why do we measure WBC cystine ? White blood cells (WBC) are easily accessible. Cystine level can be determined in mixed leucocytes or in isolated granulocytes. White blood cell cystine levels are used for the diagnosis of cystinosisand the monitoring of patients under cysteamine bitartrate therapy. The amount of WBC cystine is measured in “nmol of half cystine per mg of protein”How do we sample and dispatch ?UNTREATED PATIENTS1- WBC should be collected in ACD(acid-citrate dextrose) tubes withclinical detailsTREATED PATIENTS(with cysteamine bitartrate)1- WBC should be collected between5 and 6 hours after administrationof cysteamine bitartrate in ACD(acid-citrate dextrose) tubes with clinicaland treatment details2- Upon appointment with an experienced laboratory (see list), samples should bedispatched to arrive in the laboratory within 24 hours of sampling3- Samples should be kept at room temperature at all time


CYST 09-XX Brochure Cystine 100709:Brochure Cystine 16/07/09 17:34 Page 4How often should we measure WBC cystine ? WBC cystine levels should be checked 3-monthly in patients under cysteaminebitartrate therapy for compliance and treatment efficacy monitoring.How are WBC cystine levels interpreted ?UNTREATED PATIENTSTREATED PATIENTS(with cysteamine bitartrate)If level < 0.2*UnaffectedIf level > 2*Affected(homozygote)Level should be kept < 1** nmol 1/2 cystine/mg proteinNota Bene: Heterozygous patients (parents and siblings) without renal dysfunction tend to have values below1nmol 1/2 cystine/mg protein (this level is usually chosen to set up a target WBC cystine level duringcysteamine treatment). Treated patients should have a WBC cystine level kept below 1nmol 1/2 cystine/mg protein toensure the best therapeutic efficacy. Hemodialysis decreases cysteamine plasma concentrations but not WBC cystine level.


CYST 09-XX Brochure Cystine 100709:Brochure Cystine 16/07/09 17:34 Page 1Laboratories performingWBC cystine measurementsLaboratories participating in the ERNDIM (European Research Network for evaluation andimprovement of screening, diagnosis and treatment of inherited Disorders of Metabolism) EQA scheme : BELGIUMBrusselsCliniques universitairesSaint-Luc & UCLLaboratoire des Maladies métaboliqueset Centre de dépistage néonatalPhone: +32 (0)2 764 67 27 FRANCEMontpellierCHU MontpellierLaboratoire de BiochimiePhone: +33 (0)4 67 33 83 15ParisHôpital Necker-Enfants MaladesLaboratoire de Biochimie médicale BPhone: +33 (0)1 44 49 45 48LyonHôpital Mère-EnfantCentre de Biologie Est, Service desmaladies héréditaires du métabolismePhone: +33 (0)4 72 12 96 32StrasbourgCHU HautepierreService de BiochimiePhone: +33 (0)3 88 12 75 42Vandoeuvre les NancyCHU Brabois - Hopital d'AdultesService de BiochimiePhone: +33 (0)3 83 15 48 53 GERMANYMünsterUniversitätsklinikumStoffwechsellaborPhone: +49 (0)251 8357736HannoverMedizinische HochschuleStoffwechsellaborPhone: +49 (0)511 532 9004BerlinCharité Universitätsklinikum -Campus Virchow-KlinikumStoffwechsellaborPhone: +49 (0)30 450 50 ITALYPadovaPoliclinico PadovaLaboratorio diagnosi e studio malattie rarePhone: +39 (0)49 8211478 ext 433RomaOspedale Bambin GesùLaboratorio di Analisi sezione diBiochimica MetabolicaPhone: +39 (0)6 2090 2151or +39 (0)6 6859 2174 NEW ZEALANDAucklandNational Testing CentrePhone: +64 (0)9 307 4949 ext 6678 PORTUGALPortoInstituto de Genética MédicaLaboratorioPhone: +351 (0)226 070 340LisboaFaculdade de Farmácia -Universidade de LisboaCentro de Metabolismos e GenéticaPhone: +351 (0)217 946 400 SPAINMadridUniversidad Autónoma de MadridCentro de Biología Molecular SeveroOchoaPhone: +34 (0)91 497 45 89BarcelonaHospital San Joan de DeuLaboratorio de bioquímicaPhone: +34 (0)93 253 21 00Instituto Bioquímica ClínicaLaboratorioPhone: +34 (0)93 227 56 00 SWITZERLANDBaselUniversitäts-Kinderklinikbeider BaselStoffwechsel-LaborPhone: +41 61 685 62 75ZürichKinderspitalAbt. Klinische Chemie und BiochemiePhone: +41 44 266 75 42 THE NETHERLANDSNijmegenRadboud UniversityNijmegen Medical CentreLaboratory of Pediatrics and NeurologyPhone: +31 (0)24 361 45 67 UNITED KINGDOMBirminghamBirmingham Children’s HospitalClinical ChemistryPhone: +44 (0)121 333 9942LeedsSt. James's University HospitalDepartment of Clinical PathologyPhone: +44 (0)113 2066861LondonGreat Ormond Street HospitalDepartment of Chemical PathologyPhone: +44 (0)207 405 9200 ext 5225Evelina Children’s HospitalThe LaboratoryPhone: +44 (0)207 188 0159ManchesterRoyal ManchesterChildren's HospitalWillink Biochemical Genetics UnitPhone: +44 (0)161 922 2137CYST 07-12 / Copyright Orphan Europe 2009 - SeeYouSoonOnTheMoon Printed in France

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