title: Mycophenolate mofetil embryopathy: A newly recognized teratogenic syndrome.
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.
authors.affiliation: Neonatal Research Unit, Health Research Institute Hospital La Fe, University and Polytechnic Hospital La Fe, Valencia, Spain. Electronic address: aperezaytes@gmail.com.
authors.forename: Antonio
authors.initials: A
authors.lastname: Perez-Aytes
authors.affiliation: Neonatal Research Unit, Health Research Institute Hospital La Fe, University and Polytechnic Hospital La Fe, Valencia, Spain.
authors.forename: Purificacion
authors.initials: P
authors.lastname: Marin-Reina
authors.affiliation: Department of Pharmacy, University and Polytechnic Hospital La Fe, Valencia, Spain.
authors.forename: Virginia
authors.initials: V
authors.lastname: Boso
authors.affiliation: Neonatal Research Unit, Health Research Institute Hospital La Fe, University and Polytechnic Hospital La Fe, Valencia, Spain.
authors.forename: Ana
authors.initials: A
authors.lastname: Ledo
authors.affiliation: Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.
authors.forename: John C
authors.initials: JC
authors.lastname: Carey
authors.affiliation: Neonatal Research Unit, Health Research Institute Hospital La Fe, University and Polytechnic Hospital La Fe, Valencia, Spain.
authors.forename: Maximo
authors.initials: M
authors.lastname: Vento
mesh_terms: D000015:Abnormalities, Multiple / Q000139:chemically induced / Q000453:epidemiology / Q000503:physiopathology*; D004431:Ear, External / Q000187:drug effects / Q000503:physiopathology; D004933:Esophageal Atresia / Q000139:chemically induced / Q000503:physiopathology; D005260:Female; D005315:Fetal Diseases / Q000139:chemically induced / Q000453:epidemiology / Q000503:physiopathology*; D065630:Hernias, Diaphragmatic, Congenital / Q000139:chemically induced / Q000453:epidemiology / Q000503:physiopathology; D006801:Humans; D007231:Infant, Newborn; D018811:Maternal Exposure; D009173:Mycophenolic Acid / Q000009:adverse effects*; D011247:Pregnancy; D064793:Teratogenesis / Q000187:drug effects*; D013723:Teratogens / Q000633:toxicity
chemical_list: D013723:Teratogens; D009173:Mycophenolic Acid
keywords: Embryopathy; Immunosuppresive drugs; Microtia; Mycophenolate mofetil; Mycophenolic acid; Pregnancy; Teratogenic drugs; Transplantation