The challenges of managing coexistent disorders with phenylketonuria

Autor: M. Robert, Amaya Belanger-Quintana, Rachel Skeath, Nenad Blau, K. Strączek, Sharon Evans, M.F. Almeida, F. K. Trefz, Saikat Santra, F. J. van Spronsen, Alexandra Puchwein-Schwepcke, Maureen Cleary, Katharina Dokoupil, Maria Gizewska, Amelie S. Lotz-Havla, Anita MacDonald, Alessandro P. Burlina, E. Kamieńska, Júlio César Rocha, A.M. Lammardo, H. Gokmen Ozel, Suresh Vijay, K. Ahring, E. van Dam, François Maillot, T. Coskum, Ania C. Muntau, François Feillet, M. van Rijn
Přispěvatelé: Birmingham Children's Hospital, Glostrup Hospital, Instituto de Ciências Biomédicas de Abel Salazar (ICBAS), Universidade do Porto, Hospital Universitario Ramón y Cajal [Madrid], Universidad de Alcalá - University of Alcalá (UAH), Dietmar-Hopp Metabolic Center, University Children's Hospital Heidelberg, Division of Inherited Metabolic Diseases [Padua], Universita degli Studi di Padova, Great Ormond Street Hospital for Children [London] (GOSH), Department of Inherited Metabolic Disorders [Hacettepe ], Hacettepe University = Hacettepe Üniversitesi, Department of Metabolism and Nutrition Dr von Hauner Children's Hospital[], Dr von Hauner Children's Hospital [Munich, Germany], Ludwig-Maximilians-Universität München (LMU)-Ludwig-Maximilians-Universität München (LMU), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Nutrition-Génétique et Exposition aux Risques Environnementaux (NGERE), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), Pomeranian Medical University, Department of Nutrition and Dietetic [Hacettepe], Ludwig-Maximilians-Universität München (LMU), Nutrition, croissance et cancer (U 1069) (N2C), Université de Tours-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Médecine Interne-Nutrition, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), 'San Paolo' Hospital, Universitaetsklinikum Hamburg-Eppendorf = University Medical Center Hamburg-Eppendorf [Hamburg] (UKE), Hôpital Universitaire des Enfants Reine Fabiola, Université libre de Bruxelles (ULB), Center of Research in Health Technologies and Information Systems (CINTESIS), Division of Inborn Metabolic Diseases [Heidelberg], Section of Metabolic Diseases [University Medical Center Groningen], University Medical Center Groningen [Groningen] (UMCG), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Center for Liver, Digestive and Metabolic Diseases (CLDM)
Jazyk: angličtina
Rok vydání: 2015
Předmět:
Male
Pediatrics
Turkey
Gastrointestinal Diseases
Phenylketonurias
Endocrinology
Diabetes and Metabolism
[SDV]Life Sciences [q-bio]
Disease
Biochemistry
Cystic fibrosis
DISEASE
Consanguinity
Endocrinology
Pregnancy
Phenylketonuria
PRECOCIOUS PUBERTY
Child
Co-existent
Disease Management
3. Good health
Europe
DEFICIENCY
Child
Preschool
Female
Amenorrhea
medicine.symptom
Adult
medicine.medical_specialty
congenital
hereditary
and neonatal diseases and abnormalities
Adolescent
Diet therapy
Phenylalanine
Sapropterin
PATIENT
Autoimmune Diseases
Genetics
medicine
Humans
Molecular Biology
Retrospective Studies
ACUTE LYMPHOBLASTIC-LEUKEMIA
Chromosome Aberrations
CYSTIC-FIBROSIS
business.industry
Infant
nutritional and metabolic diseases
Retrospective cohort study
medicine.disease
Biopterin
Diet
CLASSICAL PHENYLKETONURIA
business
Zdroj: Molecular Genetics and Metabolism
Molecular Genetics and Metabolism, Elsevier, 2015, 116 (4), pp.242-251. ⟨10.1016/j.ymgme.2015.10.001⟩
Molecular Genetics and Metabolism, 116(4), 242-251. ACADEMIC PRESS INC ELSEVIER SCIENCE
ISSN: 1096-7192
1096-7206
Popis: Introduction: The few published case reports of co-existent disease with phenylketonuria (PKU) are mainly genetic and familial conditions from consanguineous marriages. The clinical and demographic features of 30 subjects with PKU and co-existent conditions were described in this multi-centre, retrospective cohort study.Methods: Diagnostic age of PKU and co-existent condition, treatment regimen, and impact of co-existent condition on blood phenylalanine (Phe) control and PKU management were reported.Results: 30 patients (11 males and 19 females), with PKU and a co-existent condition, current median age of 14 years (range 0.4 to 40 years) from 13 treatment centres from Europe and Turkey were described. There were 21 co-existent conditions with PKU; 9 were autoimmune; 6 gastrointestinal, 3 chromosomal abnormalities, and 3 inherited conditions. There were only 5 cases of parental consanguinity. Some patients required conflicting diet therapy (n = 5), nutritional support (n = 7) and 5 children had feeding problems. There was delayed diagnosis of co-existent conditions (n = 3); delayed treatment of PKU (n = 1) and amenorrhea associated with Grave's disease that masked a PKU pregnancy for 12 weeks. Co-existent conditions adversely affected blood Phe control in 47% (n = 14) of patients. Some co-existent conditions increased the complexity of disease management and increased management burden for patients and caregivers.Conclusions: Occurrence of co-existent disease is not uncommon in patients with PKU and so investigation for coexistent disorders when the clinical history is not completely consistent with PKU is essential. Integrating care of a second condition with PKU management is challenging. (C) 2015 Elsevier Inc. All rights reserved.
Databáze: OpenAIRE
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