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http://www.milenio.com/node/658617
Spanish to English translation
Rare genetic disease badly affects women only in Mexico
The phenomenon caught the attention of international science for the disease known as Fabry, only men suffer the rest of the world.
Tue, 01/03/2011 - 7:38
They usually carry the gene but do not develop symptoms. Photo: Claudia Guadarrama / File
A family of more than 121 members, a native of Sinaloa, drew the attention of the international science because seven women, which typically carry the gene, developed all the symptoms known as Fabry disease, characterized by burning pain and extreme hands and feet, kidney failure, stroke and premature death before 50 years of age.
Arturo Javier Pe?a, director of the Faculty of Medicine of the Autonomous University of Sinaloa, said that when women with Fabry detected immediately notified Desnick Robert Joseph, one of the world's leading geneticists working at Mount Sinai Hospital in New York but was informed that was impossible and that surely had the tests done wrong, because there was a case like this in the world.
Unable to make studies of the enzyme alpha-galactosidase, responsible for the breakdown of lipids or fats in the body and the arm of chromosome gene 22.1, Desnick Pe?a control several blood samples from three generations of this family, who in Sinaloa immediately moved all its equipment to corroborate these cases, unique in the world, and which were "extremely rare."
And is that the international medical and scientific literature about the strange illness only documented cases of women with genetic inheritance, without suffering the symptoms, because only a copy of their X chromosomes is affected.
"Desnick results confirmed that the 34 studied and affected in the same family, seven were women who developed the disease as if they were men.
"There was family history in which he had early deaths, 40 and 50, the oldest reached 52, I died of heart stroke. A woman has had three abortions possibly associated with evil, "said Pe?a.
The women had skin lesions, red warts were common only in boys. Had cornea verticillata (similar to an opaque cloud in the eye without causing blindness), kidney failure, burning pain, unexplained fevers, constant diarrhea, intolerance to cold and heat, lack of sweating and extreme fatigue.
Pe?a, who is also a nephrologist ISSSTE Regional Hospital, said that the family joined a program for compassionate care, whereby receiving enzyme replacement therapy, which is injected every 15 days and helps lessen symptoms.
Its price varies monthly, two doses cost about 91 thousand 200 dollars, without considering various studies that tripled the money.
In the Latin American Congress of lysosomal storage diseases (Colatel), which brought together more than 200 breeders and scientists, the IMSS specialist Luis E. Figueroa said that the rate of births is one Farby 100 000.
On one occasion, he added Figuera, attended "a girl of 18 who had pain in hands and feet too intense for six years. She was treated for rheumatoid arthritis, even supplied him with steroids and chemotherapy. Health got worse, filled with stretch marks and acne, gained weight and began to lose protein in the urine, and there we learned that the guys were all manifestations of Farby and levels of gravity. "
"The guys were a consultation to help the niece but have refused to receive treatment to keep working days. In the IMSS are given alfagalactosidasa, which produces the missing enzyme, were injected every 15 days and although the disease is not curable, it improves renal function and may prevent complications, "he said.
For its part, Nori D?valos, director of the Institute of Genetics at the University of Guadalajara, said families have been detected up to 15 members, of women suffering Fabry in Sinaloa, Sonora and Jalisco. "The problem is that patients no longer book ... I got to see a case with multipolisacaridosis, but as shown in the book had given no treatment."
Other conditions strangers
? ? ? In the Colatel, Claudia Rivera reported that Puebla was detected in three patients, one with multipolisacaridosis type six and two sisters with Gaucher disease, but date not receive treatment and so the parents went to the NHRC.
"The girl with multipolisacaridosis has 10 years, presents with severe developmental delay, measures 100 centimeters, weighs 11 kilos, has bone disorders, such as porosity and which usually increase with time, and they are forming a kind of hump on deviation of the spine, bulging abdominal, cardiac, pulmonary hypertension, sleep apnea and joint stiffness. " Caring for a child with these features costs up to 8 million pesos a month.
And the sisters are teenagers with Gaucher disease, one has already suffered a 12-cm shortening of his leg and gallstones. Usually, the disease is characterized by the age of three bulges in a stomach due to excessive enlargement of the spleen and liver.
Luis E. Figuera, division of genetics at Western Medical Center IMSS, explained that in Mexico it is estimated that about 7 million people with rare diseases. It is estimated that in Mexico are born with Gaucher one of every 57 thousand.
Spanish to English translation
Rare genetic disease badly affects women only in Mexico
The phenomenon caught the attention of international science for the disease known as Fabry, only men suffer the rest of the world.
Tue, 01/03/2011 - 7:38
They usually carry the gene but do not develop symptoms. Photo: Claudia Guadarrama / File
A family of more than 121 members, a native of Sinaloa, drew the attention of the international science because seven women, which typically carry the gene, developed all the symptoms known as Fabry disease, characterized by burning pain and extreme hands and feet, kidney failure, stroke and premature death before 50 years of age.
Arturo Javier Pe?a, director of the Faculty of Medicine of the Autonomous University of Sinaloa, said that when women with Fabry detected immediately notified Desnick Robert Joseph, one of the world's leading geneticists working at Mount Sinai Hospital in New York but was informed that was impossible and that surely had the tests done wrong, because there was a case like this in the world.
Unable to make studies of the enzyme alpha-galactosidase, responsible for the breakdown of lipids or fats in the body and the arm of chromosome gene 22.1, Desnick Pe?a control several blood samples from three generations of this family, who in Sinaloa immediately moved all its equipment to corroborate these cases, unique in the world, and which were "extremely rare."
And is that the international medical and scientific literature about the strange illness only documented cases of women with genetic inheritance, without suffering the symptoms, because only a copy of their X chromosomes is affected.
"Desnick results confirmed that the 34 studied and affected in the same family, seven were women who developed the disease as if they were men.
"There was family history in which he had early deaths, 40 and 50, the oldest reached 52, I died of heart stroke. A woman has had three abortions possibly associated with evil, "said Pe?a.
The women had skin lesions, red warts were common only in boys. Had cornea verticillata (similar to an opaque cloud in the eye without causing blindness), kidney failure, burning pain, unexplained fevers, constant diarrhea, intolerance to cold and heat, lack of sweating and extreme fatigue.
Pe?a, who is also a nephrologist ISSSTE Regional Hospital, said that the family joined a program for compassionate care, whereby receiving enzyme replacement therapy, which is injected every 15 days and helps lessen symptoms.
Its price varies monthly, two doses cost about 91 thousand 200 dollars, without considering various studies that tripled the money.
In the Latin American Congress of lysosomal storage diseases (Colatel), which brought together more than 200 breeders and scientists, the IMSS specialist Luis E. Figueroa said that the rate of births is one Farby 100 000.
On one occasion, he added Figuera, attended "a girl of 18 who had pain in hands and feet too intense for six years. She was treated for rheumatoid arthritis, even supplied him with steroids and chemotherapy. Health got worse, filled with stretch marks and acne, gained weight and began to lose protein in the urine, and there we learned that the guys were all manifestations of Farby and levels of gravity. "
"The guys were a consultation to help the niece but have refused to receive treatment to keep working days. In the IMSS are given alfagalactosidasa, which produces the missing enzyme, were injected every 15 days and although the disease is not curable, it improves renal function and may prevent complications, "he said.
For its part, Nori D?valos, director of the Institute of Genetics at the University of Guadalajara, said families have been detected up to 15 members, of women suffering Fabry in Sinaloa, Sonora and Jalisco. "The problem is that patients no longer book ... I got to see a case with multipolisacaridosis, but as shown in the book had given no treatment."
Other conditions strangers
? ? ? In the Colatel, Claudia Rivera reported that Puebla was detected in three patients, one with multipolisacaridosis type six and two sisters with Gaucher disease, but date not receive treatment and so the parents went to the NHRC.
"The girl with multipolisacaridosis has 10 years, presents with severe developmental delay, measures 100 centimeters, weighs 11 kilos, has bone disorders, such as porosity and which usually increase with time, and they are forming a kind of hump on deviation of the spine, bulging abdominal, cardiac, pulmonary hypertension, sleep apnea and joint stiffness. " Caring for a child with these features costs up to 8 million pesos a month.
And the sisters are teenagers with Gaucher disease, one has already suffered a 12-cm shortening of his leg and gallstones. Usually, the disease is characterized by the age of three bulges in a stomach due to excessive enlargement of the spleen and liver.
Luis E. Figuera, division of genetics at Western Medical Center IMSS, explained that in Mexico it is estimated that about 7 million people with rare diseases. It is estimated that in Mexico are born with Gaucher one of every 57 thousand.