Pregnancy Outcomes in Late Onset Pompe Disease
Abstract
:1. Introduction
2. Results
3. Discussion
4. Materials and Methods
Author Contributions
Funding
Conflicts of Interest
Abbreviations
PD | Pompe disease |
LOPD | Late-onset Pompe disease |
ERT | Enzyme replacement therapy |
CDC | Centers for Disease Control and Prevention |
FDA | Food and Drug Administration |
FVC | forced vital capacity |
rhGAA | Recombinant human acid alpha-Glucosidase |
IgG | Immunoglobulin G |
UK | United Kingdom |
USA | United States of America |
References
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Subject | Ethnicity | Age of Onset (Years) | Age at Diagnosis (Years) | Method of Diagnosis | Diagnosis Prior, During, or after Pregnancy | Presentation | Assistive Device |
---|---|---|---|---|---|---|---|
1 | Other | 7 | 33 | Enzyme assay, molecular testing | After all pregnancies | Muscle cramps/muscle pain at end of the day | No |
2 | Ashkenazi Jewish | 45 | 50 | Muscle biopsy | After all pregnancies | Muscle pain, shortness of breath, limited exercise ability | No |
3 | Other | 33 | 48 | Enzyme assay | After all pregnancies | Muscle atrophy, right thigh | Cane (41 y.o.), scooter/walker (47 y.o.) |
4 | Northern European | 20 | 48 | Enzyme assay | After all pregnancies | Muscle weakness | Cane, walker, scooter (48 y.o.) |
5 | Northern European | 44 | 44 | Muscle biopsy, molecular testing | After all pregnancies | Proximal muscle weakness | Cane, walker, service dog (49 y.o.) |
6 | Northern European | 18 | 24 | Muscle biopsy, molecular testing | Before pregnancies | Difficulty going up stairs | AFOs |
7 | Northern European | 41 | 46 | Muscle biopsy | After all pregnancies | Leg weakness, lower back pain | Cane, walker |
8 | Other | 27 | 32 | Muscle biopsy | During pregnancy #4 | Inability to squat and get up | Cane, scooter |
9 | N/A | 20 | 36 | Muscle biopsy, molecular testing | During pregnancy #4 | Bruising and muscle soreness after Caesarean section | No |
10 | N/A | 40–45 | 53 | Muscle biopsy, molecular testing | After all pregnancies | Muscle weakness, hip pain | Wheelchair |
11 | N/A | 30 | 46 | Muscle biopsy, molecular testing | After all pregnancies | Shortness of breath | Cane, scooter |
12 | N/A | 38 | 40 | Muscle biopsy, molecular testing | After all pregnancies | Malaise, muscle weakness | No |
13 | N/A | 51 | 55 | Muscle biopsy, molecular testing | After all pregnancies | Leg pain, muscle weakness | Cane |
14 | N/A | 30 | 35 | Muscle biopsy, molecular testing | After all pregnancies | Malaise, muscle pain | Cane, walker |
15 | N/A | 34 | 39 | Muscle biopsy, molecular testing | After all pregnancies | Muscle weakness | Cane |
16 | Northern European | 20 | 29 | Muscle biopsy, molecular testing | N/A | Fatigue, elevated liver enzymes | No |
17 | Northern European | 48 | 60 | Enzyme assay, molecular testing | After all pregnancies | Fatigue, muscle weakness, elevated CK | No |
18 | N/A | 30 | 42 | Muscle biopsy, enzyme assay, molecular testing | After all pregnancies | Difficulty getting up from the floor | Cane |
19 | N/A | 35 | 52 | Muscle biopsy, enzyme assay, molecular testing | After all pregnancies | Fatigue | Cane |
20 | N/A | 33 | 42 | Muscle biopsy, enzyme assay, molecular testing | N/A | Difficulty climbing stairs | No |
21 | N/A | 66 | N/A | Muscle biopsy, enzyme assay, molecular testing | After all pregnancies | Shortness of breath, difficulty climbing stairs | No |
22 | N/A | 31 | 31 | Liver biopsy, molecular testing | After all pregnancies | Elevated liver enzymes | No |
23 | N/A | 40 | 40 | Muscle biopsy | After all pregnancies | Back pain, exercise intolerance | No |
24 | N/A | N/A | 40 | Muscle biopsy | After all pregnancies | Family history | Cane |
25 | N/A | 45 | 49 | Muscle biopsy | After all pregnancies | Muscle weakness | No |
Subject # | # of Pregnancies | # of Births | ERT Status |
---|---|---|---|
1 | 2 | 2 | After all pregnancies |
2 | 3 | 3 | After all pregnancies |
3 | 1 | 1 | After pregnancy |
4 | 4 | 4 | After all pregnancies |
5 | 1 | 1 | After pregnancy 1 |
6 | 2 ¥ | 2(twins) | Before, during, and after pregnancy 2 |
7 | 2 | 2 | After all pregnancies |
8 | 6 ¥ | 5 | Before, during and after pregnancy 6 |
9 | 6 ¥¥ | 4 | During pregnancy 4 |
10 | 4 ¥ | 3 | No ERT |
11 | 2 | 2 | No ERT |
12 | 2 | 2 | After all pregnancies |
13 | 5 | 4 + 1 * | After all pregnancies |
14 | 2 ¥ | 1 * | After all pregnancies |
15 | 3 | 3 | After all pregnancies |
16 | 0 | 0 | After cryopreservation of embryos |
17 | 1 | 1 | No ERT |
18 | 2 | 2 | After all pregnancies |
19 | 2 | 2 | After all pregnancies |
20 | 0 | 0 | After all pregnancies |
21 | 2 | 2 | After all pregnancies |
22 | 3 ¥ | 2 | No ERT |
23 | 1 | 1 | After all pregnancies |
24 | 1 | 1 | After all pregnancies |
25 | 1 | 1 | After all pregnancies |
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Goker-Alpan, O.; Kasturi, V.G.; Sohi, M.K.; Limgala, R.P.; Austin, S.L.; Jennelle, T.; Banikazemi, M.; Kishnani, P.S. Pregnancy Outcomes in Late Onset Pompe Disease. Life 2020, 10, 194. https://doi.org/10.3390/life10090194
Goker-Alpan O, Kasturi VG, Sohi MK, Limgala RP, Austin SL, Jennelle T, Banikazemi M, Kishnani PS. Pregnancy Outcomes in Late Onset Pompe Disease. Life. 2020; 10(9):194. https://doi.org/10.3390/life10090194
Chicago/Turabian StyleGoker-Alpan, Ozlem, Vellore G. Kasturi, Maninder K. Sohi, Renuka P. Limgala, Stephanie L. Austin, Tabitha Jennelle, Maryam Banikazemi, and Priya S. Kishnani. 2020. "Pregnancy Outcomes in Late Onset Pompe Disease" Life 10, no. 9: 194. https://doi.org/10.3390/life10090194