Fabry disease in infancy and early childhood: a systematic literature review

Laney, Dawn A.; Peck, Dawn; Atherton, Andrea M.; Manwaring, Linda; Christensen, Katherine; Shankar, Suma P.; Grange, Dorothy K.; Wilcox, William R.; Hopkin, Robert J.

doi:10.1038/gim.2014.120

Cited by 88 publications

(80 citation statements)

References 63 publications

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“…Males with classic Fabry disease usually have nearly absent enzyme activity and present as early as 2 years of age with acroparesthesias, multiple angiokeratomas, reduced or absent sweating, and corneal opacity. 47 Renal insufficiency, leading to end-stage kidney disease and cardiac and cerebrovascular disease, generally occurs in middle age. Men with residual GLA activity develop later-onset cardiovascular (cardiomyopathy, mitral insufficiency, or conduction abnormalities) or renal (leading to kidney failure) variants of Fabry disease.…”

Section: Newborn Screening For Fabry Diseasementioning

confidence: 99%

Newborn screening for lysosomal storage disorders

Matern

Gavrilov

Oglesbee

et al. 2015

Seminars in Perinatology

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Section: Newborn Screening For Fabry Diseasementioning

confidence: 99%

Newborn screening for lysosomal storage disorders

Matern

Gavrilov

Oglesbee

et al. 2015

Seminars in Perinatology

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“…72,76 They can also present in childhood with cardiac findings. The most common are increased left ventricular mass and valvular dysfunction, but reduced heart rate variability and electrocardiograph changes such as T-wave inversion and PR prolongation can also occur.…”

Section: Intracardiac Infiltrative Cardiomyopathiesmentioning

confidence: 99%

Genetic Infiltrative Cardiomyopathies

Sweet

Mestroni

Taylor

2018

Heart Failure Clinics

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“…The symptoms and progression of FD are highly variable, from classical FD with early and severe onset of symptoms to non-classical or later onset FD with symptoms that may have a more severe impact on a particular organ system (cardiac, neurological, or renal) or may present in adolescence or later rather than childhood (Eng et al 2006;Smid et al 2015;Biegstraaten et al 2010;Desnick et al 2001;Laney et al 2015). These symptoms affect both males and females and vary among individuals (Eng et al 2006;Wang et al 2007;Desnick et al 2001;Hopkin et al 2008).…”

Section: Introductionmentioning

confidence: 99%

The Impact of Fabry Disease on Reproductive Fitness

et al. 2017

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Fabry disease (FD) is a pan-ethnic, X-linked, progressive lysosomal storage disorder caused by pathogenic mutations in the GLA gene. Published case reports and abstracts suggest that decreased reproductive fitness may occur in males with FD. In order to understand the impact of FD on reproductive fitness and increase the accuracy of reproductive genetic counseling, this study examines a large, multi-centered population of individuals with FD to determine if males have reduced reproductive fitness. Study data were collected on 376 patients through two, gender-specific surveys distributed across the United States and Canada. The number of biological live-born children among individuals with FD was compared to statistics from the general population. Information was also collected on reduced sperm count, depression, pain, use of assisted reproductive technology, and reproductive choice. On average, females affected by FD had more biological live-born children (1.8) than males affected by FD (1.1). However, males affected by FD had an increased mean number of biological children (1.1) compared to the mean number of biological children fathered by men in the United States (0.9). Sixteen of the 134 males with FD reported oligospermia, which suggests that an infertility work up may be indicated for males having difficulty impregnating their partners. In our large multicenter sample, males and females with FD do not exhibit reduced reproductive fitness; on average they have more biological children than the general population in the United States. This information should assist clinicians in providing accurate reproductive genetic counseling and treatment for individuals with FD.

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Fabry disease in infancy and early childhood: a systematic literature review

Cited by 88 publications

References 63 publications

Newborn screening for lysosomal storage disorders

Newborn screening for lysosomal storage disorders

Genetic Infiltrative Cardiomyopathies

The Impact of Fabry Disease on Reproductive Fitness

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