A MacDonald1, K Ahring2, M F Almeida3, A Belanger-Quintana4, N Blau5, A Burlina6, M Cleary7, T Coskum8, K Dokoupil9, S Evans1, F Feillet10, M Giżewska11, H Gokmen Ozel12, A S Lotz-Havla13, E Kamieńska14, F Maillot15, A M Lammardo16, A C Muntau17, A Puchwein-Schwepcke13, M Robert18, J C Rocha19, S Santra1, R Skeath7, K Strączek11, F K Trefz20, E van Dam21, M van Rijn21, F van Spronsen21, S Vijay1. 1. The Children's Hospital, Birmingham, UK. 2. Center for PKU, The Kennedy Centre, University Hospital, Glostrup, Copenhagen, Denmark. 3. Centro de Genética Médica Doutor Jacinto de Magalhães, CHP EPE, Porto, Portugal; Unit for Multidisciplinary Research in Biomedicine, Abel Salazar Institute of Biomedical Sciences, University of Porto-UMIB/ICBAS/UP, Porto, Portugal. 4. Hospital Ramon y Cajal Madrid, Spain. 5. Dietmar-Hopp Metabolic Center, University Children's Hospital, Heidelberg, Germany. 6. Division of Inherited Metabolic Diseases, University Hospital, Padua, Italy. 7. Hospital for Sick Children, Great Ormond Street, London, UK. 8. Department of Inherited Metabolic Disorders, Hacettepe University, Ankara, Turkey. 9. Department of Metabolism and Nutrition, Dr. von Hauner Children's Hospital, University of Munich, Munich, Germany. 10. Hôpital d'enfants Brabois, Vandoeuvre les Nancy, France. 11. Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology, Pomeranian Medical University, Szczecin, Poland. 12. Department of Nutrition and Dietetics, Hacettepe University, Ankara, Turkey. 13. Dr. von Hauner Children's Hospital, University of Munich, Munich, Germany. 14. Department of Paediatrics and Haematology, Pomeranian Medical University, Szczecin, Poland. 15. CHRU de Tours, service de medicine interne, Université François Rabelais, Tours, France. 16. Depart Ped, San Paolo Hosp Univ Milan, Milan, Italy. 17. University Children's Hospital, University Medical Center Hamburg Eppendorf, Hamburg, Germany. 18. Hôpital Universitaire des Enfants Reine Fabiola, Brussels, Belgium. 19. Centro de Genética Médica Doutor Jacinto de Magalhães, CHP EPE, Porto, Portugal; Faculdade de Ciências da Saúde, Universidade Fernando Pessoa, Porto, Portugal; Center for Health Technology and Services Research (CINTESIS), Portugal. 20. Division of Inborn Metabolic Diseases, University Children's Hospital, Heidelberg, Germany. 21. Section of Metabolic Diseases, University of Groningen, University Medical Center Groningen, Groningen, Netherlands.
Abstract
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 co-existent disorders when the clinical history is not completely consistent with PKU is essential. Integrating care of a second condition with PKU management is challenging.
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 co-existent disorders when the clinical history is not completely consistent with PKU is essential. Integrating care of a second condition with PKU management is challenging.
Authors: A M J van Wegberg; A MacDonald; K Ahring; A Bélanger-Quintana; N Blau; A M Bosch; A Burlina; J Campistol; F Feillet; M Giżewska; S C Huijbregts; S Kearney; V Leuzzi; F Maillot; A C Muntau; M van Rijn; F Trefz; J H Walter; F J van Spronsen Journal: Orphanet J Rare Dis Date: 2017-10-12 Impact factor: 4.123
Authors: Michał Patalan; Alicja Leśniak; Krzysztof Bernatowicz; Hanna Romanowska; Elżbieta Krzywińska-Zdeb; Mieczysław Walczak; Maria Giżewska Journal: Int J Environ Res Public Health Date: 2022-02-24 Impact factor: 3.390