Mycophenolate mofetil embryopathy: A newly recognized teratogenic syndrome

Fecha de publicación: 01/01/2017

Autores de IIS La Fe

Participantes ajenos a IIS La Fe

Carey, JC

Grupos

Farmacogenética

Investigador Principal

María José Herrero Cervera
Perinatología

Leader

Máximo Vento Torres

Abstract

Mycophenolate mofetil (MMF) is probably the most common employed immunosuppressant drug in recipients of solid organ transplant and in many autoimmune diseases. In vitro studies, a significant number of single clinical observations and a recent study from a group of different European teratogen information services, have provided very consistent data supporting the existence of a specific MMF embryopathy. The typical malformative pattern of MMF embryopathy includes external ear anomalies ranging from hypoplastic pinna (microtia) to complete absence of pinna (anotia); cleft lip, with or without cleft palate, and ocular anomalies as iris or chorioretinal coloboma and anophthalmia/microphthalmia. Other less frequent features are congenital heart defects, distal limbs anomalies, esophageal atresia, vertebral malformations, diaphragmatic hernia, and kidney and central nervous system anomalies. Neurodevelopmental outcome seems favorable in the small number of patients where information about this issue is available, but neurological deficits have been documented. Physicians in charge of women under MMF therapy should be aware of the potential risk of this drug to cause a specific embryopathy and the need of interrupting the treatment at least six weeks before becoming pregnant. (C) 2016 Elsevier Masson SAS. All rights reserved.

Datos de la publicación

ISSN/ISSNe:: 1769-7212, 1878-0849
Tipo:: Article
Páginas:: 16-21
DOI:: 10.1016/j.ejmg.2016.09.014
Factor de Impacto:: 1,066 SCImago ℠
Cuartil:: Q1 SCImago ℠

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Métricas

Filiaciones

Perez-Aytes, A:: Instituto de Investigación. Neonatal Research Unit, Health Research Institute Hospital La Fe, University and Polytechnic Hospital La Fe, Valencia, Spain

Instituto de Investigación. Univ & Polytech Hosp La Fe, Hlth Res Inst Hosp La Fe, Neonatal Res Unit, Ave Abril Martorell 106, Valencia 46026, Spain
Marin-Reina, P:: Instituto de Investigación. Neonatal Research Unit, Health Research Institute Hospital La Fe, University and Polytechnic Hospital La Fe, Valencia, Spain

Instituto de Investigación. Univ & Polytech Hosp La Fe, Hlth Res Inst Hosp La Fe, Neonatal Res Unit, Ave Abril Martorell 106, Valencia 46026, Spain
Boso, V:: Department of Pharmacy, University and Polytechnic Hospital La Fe, Valencia, Spain

Univ & Polytech Hosp La Fe, Dept Pharm, Valencia, Spain
Ledo, A:: Instituto de Investigación. Neonatal Research Unit, Health Research Institute Hospital La Fe, University and Polytechnic Hospital La Fe, Valencia, Spain

Instituto de Investigación. Univ & Polytech Hosp La Fe, Hlth Res Inst Hosp La Fe, Neonatal Res Unit, Ave Abril Martorell 106, Valencia 46026, Spain
Carey, JC:: Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA

Univ Utah Sch Med, Dept Pediat, Div Med Genet, Salt Lake City, UT USA
Vento, M:: Instituto de Investigación. Neonatal Research Unit, Health Research Institute Hospital La Fe, University and Polytechnic Hospital La Fe, Valencia, Spain

Instituto de Investigación. Univ & Polytech Hosp La Fe, Hlth Res Inst Hosp La Fe, Neonatal Res Unit, Ave Abril Martorell 106, Valencia 46026, Spain