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Enzyme Replacement Therapy During Pregnancy in Fabry Patients : Review of Published Cases of Live Births and a New Case of a Severely Affected Female with Fabry Disease and Pre-eclampsia Complicating Pregnancy.

ABSTRACT: Fabry disease (FD) is an X-linked, lysosomal storage disease. Mutations in the gene coding for alpha-galactosidase A lead to globotriaosylceramide (Gb-3) accumulation in lysosomes and in placenta and umbilical cord. Impact of FD and treatment with enzyme replacement (ERT) on foetal development is undisclosed.A 38-year-old primigravida with FD (G85N) is reported. She has 50% reduced alpha-galactosidase A activity and elevated plasma and urine-Gb-3. She was severely affected with ischaemic stroke at age 23, hypertension, albuminuria and moderately reduced renal function. ERT was initiated at age 23 years in 2001 and continued during spontaneous pregnancy at age 38. In third trimester she developed moderate-to-severe pre-eclampsia, successfully managed by methyldopa. Chorion villus sampling revealed a male foetus without the maternal gene mutation. Planned Caesarean section was performed without complications at gestational age week 38 + 6, delivering a healthy boy. Histopathological placental examination showed no sign of Gb-3 accumulation. Literature survey disclosed a total of 12 cases, 8 were treated with ERT during pregnancy and 5 infants inherited the family mutation. All outcomes were successful. In the six cases with available placental histopathological examination, Gb-3 accumulation was only seen on the foetal side if the foetus had the inherited mutation.In conclusion, the present case, describing the first data from a severely affected FD patient receiving ERT during pregnancy complicated by pre-eclampsia, together with all other published cases, has emphasized that ERT is safe during pregnancy and resulting in successful foetal outcome; despite this, ERT is by the health authorities advised against during pregnancy.

SUBMITTER: Madsen CV

PROVIDER: S-EPMC6323029 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature

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Enzyme Replacement Therapy During Pregnancy in Fabry Patients : Review of Published Cases of Live Births and a New Case of a Severely Affected Female with Fabry Disease and Pre-eclampsia Complicating Pregnancy.

Madsen Christoffer V CV Christensen Erik Ilsø EI Nielsen Rikke R Mogensen Helle H Rasmussen Åse K ÅK Feldt-Rasmussen Ulla U

JIMD reports 20180817

Fabry disease (FD) is an X-linked, lysosomal storage disease. Mutations in the gene coding for alpha-galactosidase A lead to globotriaosylceramide (Gb-3) accumulation in lysosomes and in placenta and umbilical cord. Impact of FD and treatment with enzyme replacement (ERT) on foetal development is undisclosed.A 38-year-old primigravida with FD (G85N) is reported. She has 50% reduced alpha-galactosidase A activity and elevated plasma and urine-Gb-3. She was severely affected with ischaemic stroke ...[more]

PMID: 30117110

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Project description:BackgroundIn the context of increased global mobility, it is fundamental to understand migrants' needs and how governments can ensure equal health opportunities for both regular and irregular migrants simply by applying low-cost primary health care measures. To identify health issues in which to intervene, this study analysed the impact of a mother's lack of legal status, together with available biological and socioeconomic characteristics, on four indicators of adverse perinatal outcomes in Switzerland.MethodsBased on the exhaustive records of the Swiss Federal Statistical Office (FSO) for its Vital Statistics (BEVNAT), different indicators of birth outcomes, including preterm birth (PTB), low and very low birth weight (LBW and VLBW), and small for gestational age (SGA), were analysed using logistic regressions on live births occurring from 2005 to 2018. These four adverse outcomes were defined as dependent variables. Statistical analysis was performed using the statistical package STATA, version 17.ResultsSelected pregnancy outcomes were conversely affected by an irregular legal status. Analysis run on the final sample showed that, compared to the neonates of mothers who are non-migrant legal residents in Switzerland, newborns of irregular migrants have higher risks of PTB (aOR 1.18 95% CI [1.05-1.32], p<0.01) and VLBW (aOR 1.43 [1.13-1.81], p < 0.01]). In contrast, we observed that in both irregular and regular migrant groups, the odds of SGA were lowered (aOR .76 [.68-.85] p<0.01) and aOR .93 [.91-.94], p< 0.01, respectively). A similar effect was observed when controlling for any adverse outcome (any AOs) (aOR .90 [.83-.99] p 0.022; and aOR .93 [.91-.94] p< 0.01, respectively).ConclusionsOur results, together with those from the available literature, call for a more comprehensive assessment of all pregnancy outcomes as well as of the social determinants of health for which the analysis was adjusted. Given the complexity of the migration phenomenon, future studies should account for local structural restrictions in the organization of care, the extension of a person's network as a means of health care accessibility, diverse backgrounds and cultures and the recent arrival status of migrants. This would allow researchers to understand the long-term impact of social determinants of health on the wellbeing of a mother and child and take them into account in the adoption of health policies.

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Dataset Information

Enzyme Replacement Therapy During Pregnancy in Fabry Patients : Review of Published Cases of Live Births and a New Case of a Severely Affected Female with Fabry Disease and Pre-eclampsia Complicating Pregnancy.

Publications

Enzyme Replacement Therapy During Pregnancy in Fabry Patients : Review of Published Cases of Live Births and a New Case of a Severely Affected Female with Fabry Disease and Pre-eclampsia Complicating Pregnancy.

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