Barbero Pablo, Lotersztein Vanesa, Bronberg Ruben, Perez Miriam, Alba Liliana
Línea Salud Fetal, Servicio de Información de Agentes Teratogénicos, Centro Nacional de Genética Médica, Buenos Aires, Argentina.
Birth Defects Res A Clin Mol Teratol. 2004 Oct;70(10):831-3. doi: 10.1002/bdra.20078.
Acitretin is an aromatic retinoid analog of vitamin A. Drugs of this group are well-known teratogenic agents. Nevertheless, acitretin embryopathy has been described only in fetuses.
An infant was exposed to 10 mg/day of acitretin from the beginning of pregnancy until the 10th gestational week. At term, the newborn showed the following abnormalities: microcephaly, epicanthal folds, low nasal bridge, high palate, cup-shaped ears, anteverted nostrils, atrial septal defect, and bilateral sensorineural deafness. At 18 months of age, the patient showed microcephaly and neurodevelopmental delay.
Our patient shows a pattern of anomalies resembling that observed in isotretinoin- and etretinate-exposed children. After ingestion, acitretin is partially converted into etretinate, and etretinate is partially metabolized into acitretin. A similar phenotype would therefore be expected after prenatal exposure to either drug. Moreover, in the present case, teratogenic effects were observed even though the dose was lower than in the previously reported acitretin embryopathy cases. Therefore, we propose that different retinoids, acitretin included, produce only one malformation pattern with variable phenotypic expression.
阿维A是维生素A的一种芳香族维甲酸类似物。这类药物是众所周知的致畸剂。然而，阿维A胚胎病仅在胎儿中被描述过。
一名婴儿从怀孕开始至妊娠第10周期间每天接触10毫克阿维A。足月时，新生儿出现以下异常：小头畸形、内眦赘皮、鼻梁低、腭裂、杯状耳、鼻孔前倾、房间隔缺损和双侧感音神经性耳聋。在18个月大时，该患者出现小头畸形和神经发育迟缓。
我们的患者表现出的异常模式与异维A酸和依曲替酯暴露儿童中观察到的相似。摄入后，阿维A部分转化为依曲替酯，依曲替酯部分代谢为阿维A。因此，产前接触这两种药物中的任何一种都可能预期出现类似的表型。此外，在本病例中，即使剂量低于先前报道的阿维A胚胎病病例，也观察到了致畸作用。因此，我们提出不同的维甲酸，包括阿维A，只会产生一种具有可变表型表达的畸形模式。
