Key European guidelines for the diagnosis and management of patients with phenylketonuria
| Autor: | Amaya Belanger-Quintana, François Maillot, François Feillet, F. K. Trefz, Vincenzo Leuzzi, Stephan C. J. Huijbregts, K. Ahring, Annemiek M. J. van Wegberg, Ania C. Muntau, Margreet van Rijn, Alberto Burlina, Jaime Campistol, Shauna Kearney, A. MacDonald, Maria Gizewska, Francjan J. van Spronsen, Nenad Blau, John H. Walter, Annet M. Bosch |
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| Přispěvatelé: | University of Zurich, van Spronsen, Francjan J |
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
PLASMA PHENYLALANINE medicine.medical_specialty Pediatrics LONG-TERM Endocrinology Diabetes and Metabolism lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4] 610 Medicine & health Phenylalanine MILD HYPERPHENYLALANINEMIA 030105 genetics & heredity Blood phenylalanine MATERNAL PHENYLKETONURIA 03 medical and health sciences 0302 clinical medicine Endocrinology Treatment targets Blood concentration QUALITY-OF-LIFE Internal medicine CONTINUOUSLY TREATED PHENYLKETONURIA Internal Medicine medicine MATERNAL PKU INTERNATIONAL SURVEY Pregnancy business.industry medicine.disease Network method SERUM PHENYLALANINE 1310 Endocrinology 2712 Endocrinology Diabetes and Metabolism Critical appraisal 10036 Medical Clinic 2724 Internal Medicine business PHENYLALANINE-RESTRICTED DIET 030217 neurology & neurosurgery BLOOD PHENYLALANINE |
| Zdroj: | LANCET DIABETES & ENDOCRINOLOGY r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu instname r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu Fundació Sant Joan de Déu Lancet Diabetes & Endocrinology, 5, 9, pp. 743-756 Lancet Diabetes & Endocrinology, 5, 743-756 |
| ISSN: | 2213-8587 |
| Popis: | Item does not contain fulltext We developed European guidelines to optimise phenylketonuria (PKU) care. To develop the guidelines, we did a literature search, critical appraisal, and evidence grading according to the Scottish Intercollegiate Guidelines Network method. We used the Delphi method when little or no evidence was available. From the 70 recommendations formulated, in this Review we describe ten that we deem as having the highest priority. Diet is the cornerstone of treatment, although some patients can benefit from tetrahydrobiopterin (BH4). Untreated blood phenylalanine concentrations determine management of people with PKU. No intervention is required if the blood phenylalanine concentration is less than 360 mumol/L. Treatment is recommended up to the age of 12 years if the phenylalanine blood concentration is between 360 mumol/L and 600 mumol/L, and lifelong treatment is recommended if the concentration is more than 600 mumol/L. For women trying to conceive and during pregnancy (maternal PKU), untreated phenylalanine blood concentrations of more than 360 mumol/L need to be reduced. Treatment target concentrations are as follows: 120-360 mumol/L for individuals aged 0-12 years and for maternal PKU, and 120-600 mumol/L for non-pregnant individuals older than 12 years. Minimum requirements for the management and follow-up of patients with PKU are scheduled according to age, adherence to treatment, and clinical status. Nutritional, clinical, and biochemical follow-up is necessary for all patients, regardless of therapy. |
| Databáze: | OpenAIRE |
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