苯丙酮尿症(PKU)母亲妊娠携带的正常儿童-饮食的替代选择

P. Chang, R. Fisch
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引用次数: 0

摘要

PKU母亲自然流产的发生率很高。妊娠未得到治疗的后果对她们的后代是严重有害的。表现为宫内发育迟缓,伴有小头畸形、先天畸形和智力发育异常。婴儿的病理与胎儿基因型无关,但与母亲在整个妊娠期间过量苯丙氨酸血症直接相关。如果PKU母亲在怀孕前和怀孕期间保持非常严格和控制的饮食,她们可以生出健康的婴儿。然而,在大多数情况下,在怀孕前和怀孕期间保持良好的饮食控制是不可能的,并且由于延迟或饮食治疗控制不善,可能导致出生的儿童出现严重的精神和/或身体残疾。我们之前描述了第一个使用非PKU妊娠载体与PKU母亲的卵子和丈夫的精子出生的孩子。在本报告中,我们介绍了这名婴儿在4岁7个月大时的正常发育结果。我们建议照顾PKU女性的医生可以建议妊娠载体作为MPKU的替代疗法。
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Normal Child by a Gestational Carrier of a Phenylketonuria (PKU) Mother-An Alternative to Diet
PKU mothers have a high incidence of spontaneous abortion. The consequences of untreated pregnancies are severely detrimental to their offspring. It manifested by intrauterine growth retardation with microcephaly, congenital malformations and abnormal intellectual development. Infants’ pathology is independent of fetal genotype, but is directly correlated with excessive phenylalaninaemia of the mother throughout pregnancy. PKU mothers can produce healthy infant if they maintain a very restricted and controlled diet prior conception and during pregnancy. However to maintain a well-controlled diet prior to conception and during pregnancy is not possible in most cases, and significant mental and/or physical disability can result in children born due to either the delay or the not well controlled dietary treatment. We, previously, described the first child born using, non-PKU, gestational carrier with a PKU mother’s egg and the husband’s sperm. In this report, we present the normal developmental outcome of this infant at 4years 7 month of age. We suggest that doctors who take care of PKU females could suggest gestational carriers as an alternative therapy for MPKU.
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