Physician’s Guide to the Treatment and Follow-Up of Metabolic Diseases PDF
Preview Physician’s Guide to the Treatment and Follow-Up of Metabolic Diseases
Physician’sGuidetotheTreatmentandFollow-UpofMetabolicDiseases Nenad Blau · Georg F. Hoffmann James Leonard · Joe T.R. Clarke (Eds.) Physician’s Guide to the Treatment and Follow-Up of Metabolic Diseases Foreword by C.R. Scriver With 12 Figures and 267 Tables 123 Nenad Blau Georg F. Hoffmann Division of Clinical Chemistry Universitätsklinik für Kinder- and Biochemistry und Jugendmedizin University Children’s Hospital Im Neuenheimer Feld 150 Steinwiesstrasse 75 D-69120 Heidelberg 8032 Zurich Germany Switzerland e-mail: e-mail: [email protected] Georg_Hoffmann @med.uni-heidelberg.de James Leonard Joe T.R. Clarke Biochemistry, Endocrinology Division of Clinical and Metabolism Unit & Metabolic Genetics Institute of Child Health Hospital for Sick Children 30, Guilford Street 555 University Avenue London, WC1N 1EH Toronto, Ontario, M5G 1X8 UK Canada e-mail: [email protected] e-mail: [email protected] LibraryofCongressControlNumber:2004110452 ISBN-10 3-540-22954-XSpringer-VerlagBerlinHeidelbergNewYork ISBN-13 978-3-540-22954-4Springer-VerlagBerlinHeidelbergNewYork This work is subject to copyright. All rights are reserved, whether the whole or part of the mate- rial is concerned, specifically the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting,reproductiononmicrofilmorinanyotherway,andstorageindatabanks.Duplication ofthispublicationorpartsthereofispermittedonlyundertheprovisionsoftheGermanCopyright LawofSeptember 9,1965,initscurrentversion, andpermissionforusemustalwaysbeobtained fromSpringer.ViolationsareliabletoprosecutionundertheGermanCopyrightLaw. SpringerispartofSpringerScience+BusinessMedia springeronline.com ©Springer-VerlagBerlinHeidelberg2006 PrintedinGermany The use of general descriptive names, registered names, trademarks, etc. in this publication does notimply,evenintheabsenceofaspecificstatement,thatsuchnamesareexemptfromtherelevant protectivelawsandregulationsandthereforefreeforgeneraluse. Productliability:thepublishercannotguaranteetheaccuracyofanyinformationaboutdosageand applicationcontainedinthisbook.Ineveryindividualcasetheusermustchecksuchinformation byconsultingtherelevantliterature. Editor:GabrieleSchröder,Heidelberg,Germany DeskEditor:IrmelaBohn,Germany Production:ProEditGmbH,Heidelberg,Germany Cover:FridoSteinen-Broo,EStudioCalamar,Spain Typesetting:LE-TEX,Jelonek,Schmidt&VöcklerGbR,Leipzig,Germany Printedonacid-freepaper 24/3151ML 543210 Foreword The greatest difficulty in life is to make knowledge effective, to convert it into practicalwisdom.SirWilliamOsler. Theinbornerrorsofmetabolism,asagroupofmetabolicdiseases,arerela- tivelyrareandaresometimescalled“orphandiseases.”Asagroup,theyaccount forabout1in2,500births(Applegarthetal.2000)and,asacumulativegroup reaching20yearsofage,theirprevalenceisabout40casesper100,000popula- tion.Intermsofpatientdaysofcontinuoussupervisionandcare,hundredsof thousandsofsuchdaysareinvolvedpergenerationofthesepatients.Although experience with these diseases as a class may be small and people expert in theirmanagementmayberelativelyfew,intheyearstocomemanycaregivers willbecomeinvolved.Thisbookoffershelptothem. Until the mid-twentieth century, hereditary metabolic and other genetic diseaseswereconsideredtobepurely“genetic”problems.Destinywouldtake its course, treatment did not exist, and genetic counseling about recurrence riskswasvirtuallyallthatcouldbeoffered.Phenylketonuria(PKU)wasthen showntobeatreatablegeneticdiseaseinwhichearlydiagnosisandeffective treatment prevented the disease (mental retardation) in PKU. Other genetic diseases for which an environmental experience was an essential component of cause (e.g., exposure to a dietary component or a drug) were then seen to yield to treatment. Combinations of early diagnosis and access to treat- mentbegantochangeouroutlook.Accordingly,diagnosisisthenaturalfocus of our companion book (The Physician’s Guide to the Laboratory Diagnosis of Metabolic Disease); the present volume focuses on treatment and follow- up. Over the past two decades, systematic analyses of treatment outcomes for geneticdiseasehavebeenattempted(Hayesetal.1985;Treacyetal.1995,2001). Therehasbeenslowbutsignificantprogressoverall,reflectingimprovementsin treatmentprotocols,inthetherapeuticagents(drugsandfoods,forexample), intissuetransplantation,andinenzymereplacementbyothermeans. Nowthereisanotherproblem.Patientswithtreatablehereditarymetabolic diseasegrowupandbecomeadult-agesubjects.Forthem,treatmentcontinues butundernewauspices.Thenetresultisanever-growingcommunityofpersons in need of continuing care (Lee 2002, 2003). This book also addresses that challenge. VI Foreword ThePhysician’sGuidetotheTreatmentandFollow-upofMetabolicDisease isnotanin-depthreferenceresourcesuchasmaybefoundelsewhere.Thisnew bookisconcise,itsinformationissuccinct,anditdescribesproceduresofas- sistancetopatientsinneedofcontinuouscareandsupport.Approximately300 differentdisordersareidentifiedforwhichadocumentedtherapeuticmodality isavailable.Howtomonitorthetherapeuticeffectisdescribed. One of the legacies of the Human Genome Project is ignorance; we know solittleaboutourgenomeandhowitworks.Ontheotherhand,theprojectis asignificantbeginningofnewknowledgefromwhichnewformsoftreatment,to neutralizetheeffectofmutantdisease-causingalleles,willemerge.Accordingly one can anticipate a long life for The Physician’s Guide to the Treatment and Follow-upofMetabolicDiseaseasitevolvesandincorporatesnewinformation, knowledge,andwisdom. CharlesR.Scriver,MDCMFRS AlvaProfessorEmeritusofHumanGenetics.McGillUniversity References 1. ApplegarthDA,TooneJR,LowryRB(2000)Incidenceofinbornerrorsofmetabolism inBritishColumbia,1969–1996.Pediatrics105:1–6 2. HayesA,CostaT,ScriverCR,ChildsB(1985)TheeffectofMendeliandiseaseonhuman health.II.Responsetotreatment.AmerJMedGenet21:243–255 3. LeePJ(2002)Growingolder.Theadultmetabolicclinic.JInherMetabDis25:252–260 4. LeePJ(2003)Theadultpatientwithhereditarymetabolicdisease.In:ScriverCRetal. (eds)Themetabolicandmolecularbasesofinheriteddisease(online).McGrawHill, NewYork.(ExternalupdateinChap.5.Treatmentofgeneticdisease) 5. TreacyE,ChildsB,ScriverCR(1995)Responsetotreatmentinhereditarymetabolic disease:1993surveyandtenyearcomparison.AmJHumGenet56:359–367 6. TreacyEP,ValleD,ScriverCR(2001)Thetreatmentofgeneticdisease.In:ScriverCR etal.(eds)Themetabolicandmolecularbasesofinheriteddisease,8thedn.McGraw Hill,NewYork,pp175–191 Preface You may ask whether there is a need for another book about metabolic dis- orders. Although there are a number of good books dealing with both the diagnosis and treatment of inborn errors of metabolism, many of them are rathercomplexanddetailed.Thisbookstartswherethepreviousone, Physi- cian’sGuidetotheLaboratoryDiagnosisofMetabolicDiseases,leavesoff:what to do after the laboratory reports arrive, and how to proceed once the final diagnosisismade.Incontrasttodiagnosticprocedures,whicharetodayfairly straightforward,treatmentandfollow-upofinheritedmetabolicdisordersare morecomplex.Appropriatetreatmentdependsnotonlyontheexactdiagnosis, but the management may differ from one country to another to meet local circumstances. Thisbookisdividedintotwoparts:thefirstpartdealswithinitialmanage- ment(emergencytreatmentofhypoglycemia,hyperammonemia,ketoacidosis, lacticacidemia,liverfailure,acuteencephalopathy,effectofanesthesia)while awaitingfinaldiagnosis;thesecondpartdescribesthetreatmentofgroupsof disorders. Each chapters starts with a list of disorders, which are numbered thesamewayasinthefirstbook,Physician’sGuidetotheLaboratoryDiagno- sis of Metabolic Diseases, followed by simple protocols for the treatment and follow-up. Although this book reflects as much as possible current knowledge of the treatment of inherited metabolic disorders, written by experts in this field, medicineisconstantlyadvancing.Theapplicationofthisinformationindaily practiceremainstheresponsibilityoftheattendingphysician.Thedetailshave beenchecked,buttheauthors,editors,andpublishercantakenoresponsibility for any consequences arising from the application of the information in the managementofanypatients.Drugdoses,particularlythoseusedrarely,should alwaysbecheckedmeticulously. NenadBlau GeorgF.Hoffmann JamesLeonard JoeT.R.Clarke ListofContributors GenerosoAndria JörgenBierau DipartimentodiPediatria AcademicHospitalMaastricht UniversitàFedericoII DepartmentofClinicalGenetics ViaS.Pansini5 LaboratoryforGeneticMetabolicDiseases 80131Napoli 3-XBuilding Italy POBox2500 e-mail:[email protected] 6202AZMaastricht TheNetherlands BruceA.Barshop e-mail:[email protected] UCSDBiochemicalGenetics DepartmentofPediatrics NenadBlau LaJolla,CA92093 DivisionofClinicalChemistryandBiochemistry USA UniversityChildren’sHospital e-mail:[email protected] Steinwiesstrasse75 8032Zurich RobertaBattini Switzerland DivisionofChildNeurologyandPsychiatry e-mail:[email protected] UniversityofPisa StellaMarisScientificInstitute CarolienBoelen ViadeiGiacinti1 UniversityMedicalCenterSintRadboud 56018Calambrone,Pisa CAKN Italy Huispostnummer435 e-mail:[email protected] GeertGrooteplein10 POBox9101 AnnaBiason-Lauber 6500HBNijmegen Dept.ofPediatrics TheNetherlands DivisionofClinicalChemistryandBiochemistry e-mail:[email protected] andEndocrinology/Diabetology UniversityofZurich Steinwiesstrasse75 8032Zurich Switzerland e-mail:[email protected] X ListofContributors PeterBurgard TomJ.deKoning UniversitätsklinikfürKinder- DepartmentofPaediatricMetabolicDiseases undJugendmedizin UniversityMedicalCenterUtrecht ImNeuenheimerFeld150 POBox85090 D-69120Heidelberg 3508ABUtrecht Germany TheNetherlands e-mail:[email protected] e-mail:[email protected] AlbertoBurlina KatrinaDipple UniversitadegliStudidiPadova DepartmentofPediatrics DepartmentofPediatrics DavidGeffenSchoolofMedicineatUCLA ViaGiustiniani3 10833LeConteAve. 35123Padova LosAngeles,CA90095 Italy USA e-mail:[email protected] e-mail:[email protected] PeterT.Clayton MikeGibson InstituteofChildHealth DepartmentofMolecularandMedicalGenetics DivisionofBiochemistry&Genetics OregonHealth&ScienceUniversity 30GuilfordStreet 2525SW3rdAvenue LondonWC1N1EH MailCodeMP-350 UK Portland,OR97201 e-mail:[email protected] USA e-mail:[email protected] JoeT.R.Clarke DivisionofClinical&MetabolicGenetics ErikHarms HospitalforSickChildren Universitäts-Kinderklinik 555UniversityAvenue AlbertSchweizer-Strasse33 Toronto,Ontario,M5G1X8 48129Münster Canada Germany e-mail:[email protected] e-mail:[email protected] TonDeGrauw DorotheaHaas DivisionofNeurology UniversitätsklinikfürKinder- CHMC undJugendmedizin 3333BurnetAve. DepartmentofMetabolicDiseases Cincinnati,OH45229 ImNeuenheimerFeld150 USA D-69120Heidelberg e-mail:[email protected] Germany e-mail:[email protected] ListofContributors XI GeorgF.Hoffmann RichardI.Kelley UniversitätsklinikfürKinder- KennedyKriegerInstitute undJugendmedizin 707NBroadway ImNeuenheimerFeld150 Baltimore,MD21205 D-69120Heidelberg USA Germany e-mail:[email protected] e-mail:[email protected] JörgKlepper ElisabethHolme DepartmentofPediatricNeurology DepartmentofClinicalChemistry UniversityofEssen SahlgrenskaUniversityHospital Hufelandstr.55 41345Gothenburg 45122Essen Sweden Germany e-mail:[email protected] e-mail:[email protected] BerndHoppe AgneLarsson DivisionofPediatricNeprology DepartmentofPediatrics UniversityChildren’sHospital KarolinskaInstitute Josef-Stelzmann-Strasse9 HuddingeUniversity 50924Cologne Hospital Germany 14186Stockholm e-mail:[email protected] Sweden e-mail:[email protected] KhalidHussain InstituteofChildHealth JamesLeonard GreatOrmondStreet Biochemistry,EndocrinologyandMetabolismUnit Children’sHospital InstituteofChildHealth LondonWC1N1EH 30,GuilfordStreet UK London,WC1N1EH e-mail:[email protected] UK e-mail:[email protected] JaakJaeken UniversityHospitalGasthuisberg ErnstLeumann DepartmentofPediatrics Segetenweg3 DivisionofMetabolicDiseases 8053Zurich 3000Leuven e-mail:[email protected] Belgium HannaMandel e-mail:[email protected] MetabolicUnit DepartmentofPediatrics RambamMedicalCentre Haifa Israel e-mail:[email protected]
The list of books you might like
