The sweat test is the key to detecting a genetic disease prevalent.

The salty kiss of the disease


Fibrocystic disease of the pancreas may go unnoticed and cause havoc in the body. The test that diagnosed in time.

Salt in the sweat, the skin and salt right out of the sea, may indicate one of the most common genetic problems and serious white: fibrocystic disease of the pancreas.

"It's the genetic disease, inherited autosomal recessive most frequent in whites," says Dr. Omar Pivetta, medical geneticist, adding that the cause is a mutation of the CFTR gene, which is involved in the production of sweat, gastric juice and mucus. In general, results in the formation and accumulation of a thick, sticky mucus in the lungs, intestines, pancreas and liver in particular. Difficulty breathing is the most common symptom, "by causing chronic lung infection in most cases," says the specialist.

The incidence in Argentina is higher than the average in Latin America: 1 in 30 healthy people are carriers of genetic mutation. This is because "the constitution of our population, predominantly Caucasian," says Dr. Pivetta. Its early diagnosis is crucial, as "70% of children who receive no care die before reaching the year while, with treatment that exist today, 50% live more than 46 years," according geneticist.

In the detection plays a central role of the typical symptoms of the disease fibroquísitca: large concentrations of salt in sweat and through the skin, which is why it is known as the "kissing disease salty." From this observation was invented sweat proof, as indispensable as absent.

Measure the excess salt

There are several methods for detecting fibrocystic disease, the first of which is binding for some years is the examination of newborn screening. It draws a drop of blood from newborn heel at all levels and there is a pancreatic enzyme, trypsin immuno-reactive. But this test is not sufficient to confirm the diagnosis, and here comes in the "sweat test".

The test takes about 40 minutes and shows the concentration of salt that removes abnormal body sweating. Is prescribed for children who had a positive neonatal screening, or for any child or adult with suspected symptoms.

Despite the effectiveness of this study, Dr. Pivetta laments that "in few places is done correctly." "In Buenos Aires, for example, no more than three sites do so reliably, and the country's total is less than 10 sites. The key is to be done, and we do well here, "he says.

How is after a diagnosis of fibrocystic disease? The doctor explained that treatment was "symptomatic and life": "In summer it is more water and more salt to the patient, because it has more risk of heat stroke and dehydration. And to address pulmonary infection, apply sprays and kinesitherapy to release the mucus.

Emphasizes the importance of identifying the problem in time to avoid "medical errors, lost time and increased lung damage."

Symptoms

Excessively salty sweat.
Retardation in growth.
Difficulty gaining weight.
Abundant and oily diarrhea.
Persistent respiratory infections.
Chronic cough.
Male sterility.


* Source: FIPAN (Asociación Argentina de Combat fibrocystic disease of the pancreas)