Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria.

Autor: Grohmann-Held K; Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg University Hospital, Heidelberg, Germany.; Division of Pediatrics, University Children's Hospital Greifswald, Greifswald, Germany., Burgard P; Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg University Hospital, Heidelberg, Germany., Baerwald CGO; Division of Rheumatology, Department of Internal Medicine, University of Leipzig, Leipzig, Germany., Beblo S; Hospital for Children and Adolescents, Centre for Pediatric Research Leipzig (CPL), Department of Women and Child Health, University Hospital, University of Leipzig, Leipzig, Germany., Vom Dahl S; Department of Gastroenterology, Hepatology and Infectiology, University Hospital Düsseldorf, Düsseldorf, Germany., Das A; Pediatric Metabolic Medicine, Clinic for Pediatric Kidney, Liver- and Metabolic Diseases, Hannover Medical School, Hannover, Germany., Dokoupil K; Dr. von Hauner Children's Hospital, Munich, Germany., Fleissner S; Dr. von Hauner Children's Hospital, Munich, Germany., Freisinger P; Children's Hospital Reutlingen, Reutlingen, Germany., Heddrich-Ellerbrok M; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Jung A; Interdisciplinary Center for Metabolism Endocrinology, Diabetes and Metabolism and Center of Excellence for Rare Metabolic Diseases in Adults, Charité-Universitätsmedizin, Berlin, Germany., Korpel V; Department of Gastroenterology, Hepatology and Infectiology, University Hospital Düsseldorf, Düsseldorf, Germany., Krämer J; Neuropediatrics and Metabolism, Department of Pediatrics, University Hospital Ulm, Ulm, Germany., Lier D; Children's Hospital Reutlingen, Reutlingen, Germany., Maier EM; Dr. von Hauner Children's Hospital, Munich, Germany., Meyer U; Pediatric Metabolic Medicine, Clinic for Pediatric Kidney, Liver- and Metabolic Diseases, Hannover Medical School, Hannover, Germany., Mühlhausen C; Department of Pediatrics and Adolescent Medicine, University Medical Centre Göttingen, Georg-August-University, Göttingen, Germany., Newger M; Department of Gastroenterology, Hepatology and Infectiology, University Hospital Düsseldorf, Düsseldorf, Germany., Och U; Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany., Plöckinger U; Interdisciplinary Center for Metabolism Endocrinology, Diabetes and Metabolism and Center of Excellence for Rare Metabolic Diseases in Adults, Charité-Universitätsmedizin, Berlin, Germany., Rosenbaum-Fabian S; Department of Pediatrics and Adolescent Medicine, University Children's Hospital Freiburg, Faculty of Medicine, Freiburg, Germany., Rutsch F; Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany., Santer R; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Schick P; Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg University Hospital, Heidelberg, Germany., Schwarz M; Practice for Internal Medicine, Kaarst, Germany., Spiekerkötter U; Department of Pediatrics and Adolescent Medicine, University Children's Hospital Freiburg, Faculty of Medicine, Freiburg, Germany., Strittmatter U; Neuropediatrics and Metabolism, Department of Pediatrics, University Hospital Ulm, Ulm, Germany., Thiele AG; Hospital for Children and Adolescents, Centre for Pediatric Research Leipzig (CPL), Department of Women and Child Health, University Hospital, University of Leipzig, Leipzig, Germany., Ziagaki A; Interdisciplinary Center for Metabolism Endocrinology, Diabetes and Metabolism and Center of Excellence for Rare Metabolic Diseases in Adults, Charité-Universitätsmedizin, Berlin, Germany., Mütze U; Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg University Hospital, Heidelberg, Germany., Gleich F; Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg University Hospital, Heidelberg, Germany., Garbade SF; Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg University Hospital, Heidelberg, Germany., Kölker S; Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg University Hospital, Heidelberg, Germany.
Jazyk: angličtina
Zdroj: Journal of inherited metabolic disease [J Inherit Metab Dis] 2022 Nov; Vol. 45 (6), pp. 1070-1081. Date of Electronic Publication: 2022 Aug 22.
DOI: 10.1002/jimd.12544
Abstrakt: To prevent maternal phenylketonuria (PKU) syndrome low phenylalanine concentrations (target range, 120-360 μmol/L) during pregnancy are recommended for women with PKU. We evaluated the feasibility and effectiveness of current recommendations and identified factors influencing maternal metabolic control and children's outcome. Retrospective study of first successfully completed pregnancies of 85 women with PKU from 12 German centers using historical data and interviews with the women. Children's outcome was evaluated by standardized IQ tests and parental rating of child behavior. Seventy-four percent (63/85) of women started treatment before conception, 64% (54/85) reached the phenylalanine target range before conception. Pregnancy planning resulted in earlier achievement of the phenylalanine target (18 weeks before conception planned vs. 11 weeks of gestation unplanned, p < 0.001) and lower plasma phenylalanine concentrations during pregnancy, particularly in the first trimester (0-7 weeks of gestation: 247 μmol/L planned vs. 467 μmol/L unplanned, p < 0.0001; 8-12 weeks of gestation: 235 μmol/L planned vs. 414 μmol/L unplanned, p < 0.001). Preconceptual dietary training increased the success rate of achieving the phenylalanine target before conception compared to women without training (19 weeks before conception vs. 9 weeks of gestation, p < 0.001). The majority (93%) of children had normal IQ (mean 103, median age 7.3 years); however, IQ decreased with increasing phenylalanine concentration during pregnancy. Good metabolic control during pregnancy is the prerequisite to prevent maternal PKU syndrome in the offspring. This can be achieved by timely provision of detailed information, preconceptual dietary training, and careful planning of pregnancy.
(© 2022 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM.)
Databáze: MEDLINE
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