Enzyme replacement therapy in a patient of heterozygous Fabry disease: clinical and pathological evaluations by repeat kidney biopsy and a successful pregnancy

Iwafuchi, Yoichi; Maruyama, Haruhiko; Morioka, Toshio; Noda, Shinichiro; Nagata, Hiroshi; Oyama, Yoshihiro; Narita, Ichiei

doi:10.1007/s13730-017-0277-y

Cited by 11 publications

(12 citation statements)

References 14 publications

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“…There are, currently, recombinant lysosomal enzyme replacement therapies (ERT) for many of these conditions as well as emerging treatments such as substrate reduction, chaperone and gene therapies [ 192 ]. Successful pregnancies are reported, including for Gaucher [ 193 , 194 ], Fabry [ 195 ], Pompe [ 196 ] and MPS disorders [ 197 – 199 ]. ERTs do not cross the placenta and have been given in pregnancy without complications [ 198 – 200 ].…”

Section: Types Of Iem and How They May Be Impacted Upon By Pregnancymentioning

confidence: 99%

Impact of pregnancy on inborn errors of metabolism

Wilcox

2018

Rev Endocr Metab Disord

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Once based mainly in paediatrics, inborn errors of metabolism (IEM), or inherited metabolic disorders (IMD) represent a growing adult medicine specialty. Individually rare these conditions have currently, a collective estimated prevalence of >1:800. Diagnosis has improved through expanded newborn screening programs, identification of potentially affected family members and greater awareness of symptomatic presentations in adolescence and in adulthood. Better survival and reduced mortality from previously lethal and debilitating conditions means greater numbers transition to adulthood. Pregnancy, once contraindicated for many, may represent a challenging but successful outcome. Successful pregnancies are now reported in a wide range of IEM. Significant challenges remain, given the biological stresses of pregnancy, parturition and the puerperium. Known diagnoses allow preventive and pre-emptive management. Unrecognized metabolic disorders especially, remain a preventable cause of maternal and neonatal mortality and morbidity. Increased awareness of these conditions amongst all clinicians is essential to expedite diagnosis and manage appropriately. This review aims to describe normal adaptations to pregnancy and discuss how various types of IEM may be affected. Relevant translational research and clinical experience will be reviewed with practical management aspects cited. Based on current literature, the impact of maternal IEM on mother and/or foetus, as well as how foetal IEM may affect the mother, will be considered. Insights gained from these rare disorders to more common conditions will be explored. Gaps in the literature, unanswered questions and steps to enhance further knowledge and systematically capture experience, such as establishment of an IEM-pregnancy registry, will be summarized.

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Section: Types Of Iem and How They May Be Impacted Upon By Pregnancymentioning

confidence: 99%

Impact of pregnancy on inborn errors of metabolism

Wilcox

2018

Rev Endocr Metab Disord

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“…The variant c.625T > C was detailed in our previous report regarding NBS for FD [10]. Four variants, namely c.725T > C, c.801 + 1G > A, c.1124G > A, and c.1165C > G, were reported by Tsukimura et al [18], Li et al [19], Iwafuchi et al [20], and van der Tol et al [21], respectively. The remaining 26 variants were considered as novel variants.…”

Section: Gla Variants Detected In the Fabry Patientsmentioning

confidence: 93%

Fabry disease screening in high-risk populations in Japan: A nationwide study

Yoshida

Kido

Sawada

et al. 2020

Preprint

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Background: Fabry disease (FD) is a rare, X-linked inherited disorder caused by mutations in the GLA gene, which results in deficiency of α-galactosidase A (α-Gal A). This leads to the progressive accumulation of metabolites, which can cause malfunctions in systemic organs. A recent screening study in newborns demonstrated that the incidence of FD was more frequent than previously estimated and that there are still many undiagnosed or misdiagnosed Fabry patients. Therefore, the purpose of this study was to identify Fabry patients by performing high-risk screening in 18,171 individuals, enrolled from October 2006 to March 2019, with renal, cardiac, or neurological manifestations from all of the prefectures in Japan. A total of 601 hospitals from all the prefectures in Japan participated in this study. Results: From October 2006 to March 2019, 18,171 individuals with renal, cardiac, or neurological manifestations were enrolled. Low α-Gal A activity was detected in 846 individuals, with 224 of them diagnosed with FD by GLA sequencing. Cases with a family history of FD (n = 64) were also subjected to sequencing, without α-Gal A assay, as per individual request and 12 of them were diagnosed with a variant of FD. A total of 236 Fabry patients (97 males and 139 females) were detected from the 18,235 participants. There were 101 GLA variants, including 26 novel variants, detected in the 236 Fabry patients from 143 families, with 39 amenable variants (39%) and 79 of the 236 patients (33%) suitable for migalastat treatment. Conclusions: From the 18,235 participants, 101 GLA variants, including 26 novel variants, were identified in the 236 Fabry patients from 143 families. Migalastat was identified as a suitable treatment option in 33% of the Fabry patients and 39% of the GLA variants were detected as amenable. Therefore, the simple screening protocol, using dried blood spots, that was performed in this study could be useful for early diagnosis and selection of appropriate treatments for FD in high-risk and underdiagnosed patients suffering from various renal, cardiac, or neurological manifestations.

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“…The variant c.625T>C was detailed in our previous report regarding NBS for FD [11]. Four variants, namely c.725T>C, c.801+1G>A, c.1124G>A, and c.1165C>G, were reported by Tsukimura et al [19], Li et al [20], Iwafuchi et al [21], and van der Tol et al [22], respectively. The remaining 26 Figure S2.…”

Section: Gla Variants Detected In the Fabry Patientsmentioning

confidence: 98%

“…In the follow-up study of each patient,21 of the 26 novel variants were indicated as pathogenic, namely c.97G>C/p.D33H, c.157A>T/p.N53Y, c.184dupT/p.S62Ffs*18, c.205T>C/p.F69L, c.207del/p.F69Lfs*52, c.264C>G/p.Y88*, c.329del/p.P110Lfs*11, c.386_389dupTGAA/p.L131Efs*9, c.440G>T/p.G147V, c.563delC/p.Y188Sfs*4, c.610T>G/p.W204G, c.691_693GAC>TAT/p.D231Y, c.825delC/p.S276Afs*6, c.827G>C/p.S276T, c.848A>G/p.Q283R, c.908T>C/p.I303T, c.987C>A/p.Y329*, c.1019delG/p.E341Nfs*57, c.1054G>C/p.A352P, c.1085_1088dupCTCG/p.Y365Lfs*11, and c.1100dupT/p.A368Rfs*7. There were also five variants identified which were not registered in ClinVar or Fabry-database.org, specifically c.725T>C/p.I242T, c.801+1G>A/p.L268Ifs*3, c.908_923del21/p.S304_310Ldel, c.1124G>A/p.G375E, and c.1165C>G/p.P389A.…”

mentioning

confidence: 99%

Fabry disease screening in high-risk populations in Japan: A nationwide study

Yoshida

Kido

Sawada

et al. 2020

Preprint

View full text Add to dashboard Cite

Background: Fabry disease (FD) is a X-linked inherited disorder caused by mutations in the GLA gene, which results in deficiency of α-galactosidase A (α-Gal A). This leads to the progressive accumulation of metabolites, which can cause malfunctions in systemic organs. A recent screening study in newborns showed that the incidence of FD was more frequent than previously estimated and that there are still many undiagnosed or misdiagnosed patients with FD. Therefore, the purpose of this study was to identify patients with FD by performing high-risk screening in 18,135 individuals, enrolled from October 2006 to March 2019, with renal, cardiac, or neurological manifestations from all of the prefectures in Japan. A total of 601 hospitals participated in this study.Results: Low α-Gal A activity was detected in 846 individuals, with 224 of them diagnosed with FD by GLA sequencing. Cases with a family history of FD (n = 64) were also subjected to sequencing, without α-Gal A assay, as per individual request, and 12 of them were diagnosed with a variant of FD. A total of 236 patients with FD (97 males and 139 females) were detected from the 18,199 participants. A total of 101 GLA variants, including 26 novel variants, were detected in the 236 patients with FD from 143 families, with 39 amenable variants (39%) and 79 of the 236 patients (33%) suitable for migalastat treatment.Conclusions: From the 18,199 participants, 101 GLA variants, including 26 novel variants, were identified in the 236 patients with FD from 143 families. Migalastat was identified as a suitable treatment option in 33% of the patients with FD and 39% of the GLA variants were detected as amenable. Therefore, the simple screening protocol using dried blood spots that was performed in this study could be useful for early diagnosis and selection of appropriate treatments for FD in high-risk and underdiagnosed patients with various renal, cardiac, or neurological manifestations.

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Enzyme replacement therapy in a patient of heterozygous Fabry disease: clinical and pathological evaluations by repeat kidney biopsy and a successful pregnancy

Cited by 11 publications

References 14 publications

Impact of pregnancy on inborn errors of metabolism

Impact of pregnancy on inborn errors of metabolism

Fabry disease screening in high-risk populations in Japan: A nationwide study

Fabry disease screening in high-risk populations in Japan: A nationwide study

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