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However, symptoms have been reported as early as
age three years in both genders. Diagnosis of Fabry
disease often occurs years after the symptoms have
begun.
Children with Fabry disease may have symptoms of
kidney problems. According to the Fabry Registry,
approximately 15% of boys and girls under the age of
18 years of age have proteinuria defined as a urinary
protein: urinary creatinine ratio ≥0.3 or urinary
protein levels e0.3g/day. It has been documented
that, although rare, children with Fabry disease can
experience renal failure as young as 16 years of age.
Given the importance of early treatment of Fabry
disease, the early detection of this disease has been
added to the newborn screening blood test in Missouri
and Illinois. Other states are in the process of adding
Fabry to their testing as well and some babies in New
York City are tested depending on their hospital of
birth.
What are ways that the kidneys are affected by
Fabry Disease?
According to the Fabry Registry (an international
database sponsored by Genzyme that collects
information on Fabry disease patients), a number
of people with Fabry disease experience kidney
problems. Nineteen percent of the females in the
Registry had chronic kidney disease, Stage 3 or higher
and 2% of them reached End-Stage Renal Disease
(ESRD). For males, 34% had chronic kidney disease,
Stage 3 or higher and 14% of them reached End-Stage
Renal Disease (ESRD).
In addition, heart problems were reported most
frequently as a serious problem for males and females.
And both males and females in the Registry reported
having a lower quality of life after they were in their
mid-thirties.
Where can I find more information?
Fabry Support and Information Group (FSIG): www.
fabry.org
National Fabry Disease Foundation (NKDF): www.
thenfdf.org
ThinkGenetic: www.thinkgenetic.com
Fabry Community (Genzyme): www.fabrycommunity.
com
Genzyme Case Managers: 1-800-7454447 (option3)
Fabry Family and Education Testing Project: http://
genetics.emory.edu/patient-care/lysosomal-storagedisease-center/lab-testing.html
National Organization for Rare Disorders (NORD):
www.rarediseases.org
References
A Guide for Women Living with Fabry Disease 2014.
Genzyme Corporation.
Emory University School of Medicine, http://genetics.
emory.edu/patient-care/lysosomal-storage-diseasecenter/lab-testing.html
Fabry Disease & Children 2012.Genzyme
C orporation.
Laney DJ, Clynes D. Fabry Family and Education
Testing Project. aakpRENALIFE 2016; 6-8.
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