A prison cell is made up of 23 twosome of chromosomes . These chromosomes carry in a bodily structure call DNA all the transmissible information that identify a individual , such as sex . In the case of women , the chromosomal couplet that determines sexuality contains two X chromosome and in the case of men , one Adam chromosome and another Y chromosome .
Fabry disease is a shape linked to this X chromosome , which mean that the faulty factor that generates or does not pass the toxic message that get the disease , alpha - GAL , is found on this ecstasy chromosome .
Is Fabry Disease Inherited From Family?
Fabry disease , therefore , by being part of the cistron , is channel from father to son , that is , it can be inherited by the offspring . In this sentience , girls ( XX ) inherit an XTC chromosome from the female parent and an X chromosome from the father . This have in mind that when the male is bear on by Fabry , all his daughters will inherit the anomalous X chromosome . On the opposite , in the case of the children , they will inherit the Y chromosome from the father and the hug drug chromosome from their mother and , therefore , they would not suffer from the disease .
In the case that it is the char who suffers Fabry ( XX ) , they have a 50 % chance of transmitting the unnatural gene to any of their children , whether boys or girls . Only the sons that inherit the altered X chromosome from the mother will present the symptoms of the disease , and if they inherit the normal one , they will not manifest them .
However , in the case of daughters who inherit the anomalous X chromosome .
How Can You Know If You Have Fabry’s Disease?
Confirmation of the diagnosing of a someone with Fabry disease is extend out through several test , call hereditary diagnosing , indicated by a specialist and , with which it is possible to find out not only if a mortal has Fabry , but also if their offspring can be affected and even notice the disease in clip . These tests are different depending on the sex of the individual :
In the case of males , they undergo a line test to evaluate the tightness of the substandard enzyme alpha - galactosidase ( a - Gal A ) . A humble level of this enzyme means that the person has Fabry .
In the typeface of women , a genetic trial is necessary to analyze DNA . This trial is more effectual in confirming the diagnosis , specially if there is a history of Fabry disease .
Through antenatal diagnosing , the natural action of the enzyme a - gallon A can also be measured in the foetal tissues or in the fluid surrounding the fetus . To do this , a biopsy is performed between calendar week 10 to 12 of gestation . However , the female parent must take into account that it is an invading test with a risk of abortion of 0.5 - 2 % .
For the diagnosis of Fabry ’s disease , we must also take into account if there is any kinsfolk chronicle with this disease , especially if it is a man with kidney nonstarter , heart disease or who has suffered a virgule at a immature eld . To do this , a family tree will help us recognize if a family member has suffered Fabry , who can suffer it at this time or in the time to come .
The prognosis for patients with Fabry disease has better with the use of advanced aesculapian techniques , such as haemodialysis and kidney transplantation . Enzyme replacement therapy prevents long - term complications of Fabry disease .
Enzyme replacement therapy is used to better symptoms associated with Fabry disease and to stabilize pipe organ function . It is urge that enzymatic replenishment be done as early as possible in males ( including shaver and patients in terminal state of kidney disease who are being treated with dialysis or who had a kidney transplanting ) and in aircraft carrier women who present with signboard or serious symptoms .
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