Requirements for a minimum standard of care for phenylketonuria: the patients’ perspective

Orphanet Journal of Rare Diseases

Rosalia Pasqual Saludes³  Markéta Lhotáková¹  Gregor Hammerschmidt⁵  Paul van Berkel⁴  Tobias S Hagedorn² 

[1] National Association for PKU and other inherited metabolic disorders, Prague, Czech Republic;Deutsche Interessengemeinschaft Phenylketonurie, Hiddenhausen, Germany;Federación Española de Fenilcetornuria y Otros Trastornos del Metabolismo(FAE PKU Y OTM), Seville, Spain;Nederlandse Phenylketonurie Vereniging, Bunnik, The Netherlands;Österreichische Gesellschaft für angeborene Stoffwechselstörungen, Vienna, Austria

关键词: Patient voice;    Patient group;    Patient advocacy;    Healthcare agenda;    Centres of Expertise;    Europe;    Guidelines;    Screening;    Standards of care;    Phenylketonuria;   

Others  :  863370
DOI  :  10.1186/1750-1172-8-191

 received in 2013-03-18, accepted in 2013-11-12,  发布年份 2013

【 摘 要 】

Phenylketonuria (PKU, ORPHA716) is an inherited disorder that affects about one in every 10,000 children born in Europe. Early and continuous application of a modified diet is largely successful in preventing the devastating brain damage associated with untreated PKU. The management of PKU is inconsistent: there are few national guidelines, and these tend to be incomplete and implemented sporadically. In this article, the first-ever pan- European patient/carer perspective on optimal PKU care, the European Society for Phenylketonuria and Allied Disorders (E.S.PKU) proposes recommendations for a minimum standard of care for PKU, to underpin the development of new pan-European guideline for the management of PKU. New standards of best practice should guarantee equal access to screening, treatment and monitoring throughout Europe. Screening protocols and interpretation of screening results should be standardised. Experienced Centres of Expertise are required, in line with current European Union policy, to guarantee a defined standard of multidisciplinary treatment and care for all medical and social aspects of PKU. Women of childbearing age require especially intensive management, due to the risk of severe risks to the foetus conferred by uncontrolled PKU. All aspects of treatment should be reimbursed to ensure uniform access across Europe to guideline-driven, evidence-based care. The E.S.PKU urges PKU healthcare professionals caring for people with PKU to take the lead in developing evidence based guidelines on PKU, while continuing to play an active role in serving as the voice of patients and their families, whose lives are affected by the condition.

【 授权许可】

   
2013 Hagedorn et al.; licensee BioMed Central Ltd.

【 图 表 】

【 参考文献 】

• [1]Loeber JG: Neonatal screening in Europe; the situation in 2004. J Inherit Metab Dis 2007, 30:430-438.
• [2]Scriver CR, Kaufman S: Hyperphenylalaninemia: phenylalanine hydroxylase deficiency. In The Metabolic and Molecular Bases of Inherited Disease. 8th edition. Edited by Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler K, Vogelstein B. New York: McGraw-Hill; 2001:1667-1724.
• [3]Blau N, van Spronsen FJ, Levy HL: Phenylketonuria. Lancet 2010, 376:1417-1427.
• [4]Blau N: Phenylketonuria and BH4 deficiencies. Bremen: Uni-Med; 2010.
• [5]Gentile JK, Ten Hoedt AE, Bosch AM: Psychosocial aspects of PKU: hidden disabilities–a review. Mol Genet Metab 2010, 99(Suppl 1):S64-S67.
• [6]National Institutes of Health Consensus Development Panel: National Institutes of Health Consensus Development Conference Statement: phenylketonuria: screening and management, October 16–18, 2000. Pediatrics 2001, 108:972-982.
• [7]Blau N, MacDonald A, van Spronsen F: There is no doubt that the early identification of PKU and prompt and continuous intervention prevents mental retardation in most patients. Mol Genet Metab 2011, 104(Suppl):S1.
• [8]Giovannini M, Verduci E, Salvatici E, Paci S, Riva E: Phenylketonuria: nutritional advances and challenges. Nutr Metab (Lond) 2012, 9:7. BioMed Central Full Text
• [9]Simon E, Schwarz M, Roos J, Dragano N, Geraedts M, Siegrist J, Kamp G, Wendel U: Evaluation of quality of life and description of the sociodemographic state in adolescent and young adult patients with phenylketonuria (PKU). Health Qual Life Outcomes 2008, 6:25. BioMed Central Full Text
• [10]Blau N, Bélanger-Quintana A, Demirkol M, Feillet F, Giovannini M, MacDonald A, Trefz FK, van Spronsen FJ: Optimizing the use of sapropterin (BH (4)) in the management of phenylketonuria. Mol Genet Metab 2009, 96:158-163.
• [11]GokmenOzel H, Lammardo AM, Motzfeldt K, Robert M, Rocha JC, van Rijn M, Ahring K, Bélanger-Quintana A, MacDonald A, Dokoupil K: Use of sapropterin in the management of phenylketonuria: seven case reports. Mol Genet Metabin press
• [12]van Spronsen FJ, Enns GM: Future treatment strategies in phenylketonuria. Mol Genet Metab 2010, 99(Suppl 1):S90-S95.
• [13]Blau N, Bélanger-Quintana A, Demirkol M, Feillet F, Giovannini M, MacDonald A, Trefz FK, van Spronsen F: Management of phenylketonuria in Europe: survey results from 19 countries. Mol Genet Metab 2010, 99:109-115.
• [14]Ahring K, Bélanger-Quintana A, Dokoupil K, Gokmen-Ozel H, Lammardo AM, MacDonald A, Motzfeldt K, Nowacka M, Robert M, van Rijn M: Blood phenylalanine control in phenylketonuria: a survey of 10 European centres. Eur J Clin Nutr 2011, 65:275-278.
• [15]European Society for Phenylketonuria and Allied Disorders: PKU: Closing the Gaps in Care. An ESPKU benchmark report on the management of phenylketonuria within EU healthcare economies. http://www.espku.org/en/pku-in-europe webcite
• [16]van Spronsen FJ, Ahring KK, Gizewska M: PKU–What is daily practice in various centres in Europe? Data from a questionnaire by the scientific advisory committee of the European Society of Phenylketonuria and Allied Disorders-ESPKU. J Inherit Metab Dis 2009, 32:58-64.
• [17]Ahring K, Bélanger-Quintana A, Dokoupil K, GokmenOzel H, Lammardo AM, MacDonald A, Motzfeldt K, Nowacka M, Robert M, van Rijn M: Dietary management practices in phenylketonuria across European centres. Clin Nutr 2009, 28:231-236.
• [18]Pandor A, Eastham J, Beverley C, Chilcott J, Paisley S: Clinical effectiveness and cost-effectiveness of neonatal screening for inborn errors of metabolism using tandem mass spectrometry: a systematic review. Health Technol Assess 2004, 8(iii):1-121.
• [19]X. Public Health England: The UK NSC policy on Phenylketonuria screening in newborns. http://www.screening.nhs.uk/pku webcite
• [20]Di Ciommo V, Forcella E, Cotugno G: Living with phenylketonuria from the point of view of children, adolescents, and young adults: a qualitative study. J Dev Behav Pediatr 2012, 33:229-235.
• [21]van Spronsen FJ, Burgard P: The truth of treating patients with phenylketonuria after childhood: the need for a new guideline. J Inherit Metab Dis 2008, 31:673-679.
• [22]Sempere A, Arias A, Farré G, García-Villoria J, Rodríguez-Pombo P, Desviat LR, Merinero B, García-Cazorla A, Vilaseca MA, Ribes A, Artuch R, Campistol J: Study of inborn errors of metabolism in urine from patients with unexplained mental retardation. J Inherit Metab Dis 2010, 33:1-7.
• [23]Desviat LR, Pérez B, Gámez A, Sánchez A, García MJ, Martínez-Pardo M, Marchante C, Bóveda D, Baldellou A, Arena J, Sanjurjo P, Fernández A, Cabello ML, Ugarte M: Genetic and phenotypic aspects of phenylalanine hydroxylase deficiency in Spain: molecular survey by regions. Eur J Hum Genet 1999, 7:386-392.
• [24]Wendel U, Langenbeck UL: Towards self-monitoring and self-treatment in phenylketonuria–a way to better diet compliance. Eur J Pediat 1996, 155(Suppl 1):S105-S107.
• [25]Ten Hoedt AE, Hollak CE, Boelen CC, Van der Herberg-van de Wetering NA, Ter Horst NM, Jonkers CF, Wijburg FA, Bosch AM: “MY PKU”: increasing self-management in patients with phenylketonuria. A randomized controlled trial. Orphanet J Rare Dis 2011, 6:48. BioMed Central Full Text
• [26]European Union Committee of Experts on Rare Diseases: EUCERD Recommendations on Quality Criteria for Centres of Expertise for Rare Diseases in Member States, 24 October 2011. http://www.EUCERD.eu/upload/file/EUCERDRecommendationCE.pdf webcite
• [27]Council of the European Union: Council recommendation of 8 June 2009 on an action in the field of rare diseases (2009/C 151/02). http://eur-lex.europa.eu/LexUriServ/LexUriServ.do?uri=OJ:C:2009:151:0007:0010:EN:PDF webcite
• [28]Macdonald A, Davies P, Daly A, Hopkins V, Hall SK, Asplin D, Hendriksz C, Chakrapani A: Does maternal knowledge and parent education affect blood phenylalanine control in phenylketonuria? J Hum Nutr Diet 2008, 21:351-358.
• [29]Singh RH, Kable JA, Guerrero NV, Sullivan KM, Elsas LJ 2nd: Impact of a camp experience on phenylalanine levels, knowledge, attitudes, and health beliefs relevant to nutrition management of phenylketonuria in adolescent girls. J Am Diet Assoc 2000, 100:797-803.
• [30]Durham-Shearer SJ, Judd PA, Whelan K, Thomas JE: Knowledge, compliance and serum phenylalanine concentrations in adolescents and adults with phenylketonuria and the effect of a patient-focused educational resource. J Human Nutr Dietetics 2008, 21:474-485.
• [31]Crone MR, van Spronsen FJ, Oudshoorn K, Bekhof J, van Rijn G, Verkerk PH: Behavioural factors related to metabolic control in patients with phenylketonuria. J Inherit Metab Dis 2005, 28:627-637.
• [32]Walter JH, White FJ, Hall SK, MacDonald A, Rylance G, Boneh A, Francis DE, Shortland GJ, Schmidt M, Vail A: How practical are recommendations for dietary control in phenylketonuria? Lancet 2002, 360:55-57.
• [33]Bloom SR, Kuhlthau K, Van Cleave J, Knapp AA, Newacheck P, Perrin JM: Health care transition for youth with special health care needs. J Adolesc Health 2012, 51:213-219.
• [34]Simon E, Schwarz M, Roos J, Dragano N, Geraedts M, Siegrist J, Kamp G, Wendel U: Evaluation of quality of life and description of the sociodemographic state in adolescent and young adult patients with phenylketonuria (PKU). Health Qual Life Outcomes 2008, 26(6):25.
• [35]Ievers-Landis CE, Hoff AL, Brez C, Cancilliere MK, McConnell J, Kerr D: Situational analysis of dietary challenges of the treatment regimen for children and adolescents with phenylketonuria and their primary caregivers. J Dev Behav Pediatr 2005, 26:186-193.
• [36]Okumura MJ, Heisler M, Davis MM, Cabana MD, Demonner S, Kerr EA: Comfort of general internists and general pediatricians in providing care for young adults with chronic illnesses of childhood. J Gen Intern Med 2008, 23:1621-1627.
• [37]Hoeks MP, den Heijer M, Janssen MC: Adult issues in phenylketonuria. Neth J Med 2009, 67:2-7.
• [38]Lee PJ, Ridout D, Walter JH, Cockburn F: Maternal phenylketonuria: report from the United Kingdom Registry 1978–97. Arch Dis Child 2005, 90:143-146.
• [39]Gassió R, Campistol J, Vilaseca MA, Lambruschini N, Cambra FJ, Fusté E: Do adult patients with phenylketonuria improve their quality of life after introduction/resumption of a phenylalanine-restricted diet? Acta Paediatr 2003, 92:1474-1478.
• [40]Anjema K, van Rijn M, Verkerk PH, Burgerhof JG, Heiner-Fokkema MR, van Spronsen FJ: PKU: high plasma phenylalanine concentrations are associated with increased prevalence of mood swings. Mol Genet Metab 2011, 104:231-234.
• [41]Hoeksma M, Reijngoud DJ, Pruim J, de Valk HW, Paans AM, van Spronsen FJ: Phenylketonuria: High plasma phenylalanine decreases cerebral protein synthesis. Mol Genet Metab 2009, 96:177-182.
• [42]Pietz J, Kreis R, Rupp A, Mayatepek E, Rating D, Boesch C, Bremer HJ: Large neutral amino acids block phenylalanine transport into brain tissue in patients with phenylketonuria. J Clin Invest 1999, 103:1169-1178.
• [43]Merrick J, Aspler S, Schwarz G: Phenylalanine-restricted diet should be life long. A case report on long-term follow-up of an adolescent with untreated phenylketonuria. Int J Adolesc Med Health 2003, 15:165-168.
• [44]Kalkanoğlu HS, Ahring KK, Sertkaya D, Møller LB, Romstad A, Mikkelsen I, Guldberg P, Lou HC, Güttler F: Behavioural effects of phenylalanine-free amino acid tablet supplementation in intellectually disabled adults with untreated phenylketonuria. Acta Paediatr 2005, 94:1218-1222.
• [45]Belanger-Quintana A, Dokoupil K, Gokmen-Ozel H, Lammardo AM, MacDonald A, Motzfeldt K, Nowacka M, Robert M, van Rijn M, Ahring K: Diet in phenylketonuria: a snapshot of special dietary costs and reimbursement systems in 10 international centers. Mol Genet Metab 2012, 105:390-394.
• [46]Feillet F, Agostoni C: Nutritional issues in treating phenylketonuria. J Inherit Metab Dis 2010, 33:659-664.
• [47]van Spronsen FJ: Phenylketonuria management from an European perspective: a commentary. Mol Genet Metab 2010, 100:107-110.
• [48]National Institute for Health and Clinical Excellence: A patient’s perspective on developing the coeliac disease guideline. http://www.nice.org.uk/getinvolved/patientandpublicinvolvement/patientcoeliacgd.jsp webcite