Last updated:09-05-2008
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Definition and causes

Cystic fibrosis (also calledmucoviscidosis) Is a hereditary disease that causes disruption of the function of the body's glands, so sekretet becomes thick and cool. The disease particularly affects the lungs and pancreas, and are relatively rare, but serious.

In lungs means the accumulation of mucus that is ideal conditions for bacterial growth. Repeated lungebetændelser leads over time to the destruction of lungevævet. At the same time, accumulate a substance calledglutathione, Which further contributes to the degradation of the tissue. The result is that the lungs over many years to decompose, thus limiting their ability to ilte blood condition.

In pancreas blocked udførselsgangene of cool slim. This means that bugspytkirtlens secrete, which contains digestive, can not be transported to tarmens internal and thus can not help to break down food. When the food can not be digested, it may not be included, which means that the body not getting enough nourishment. The result is poor well-being (low weight and height). The ufordøjede food in the gut also draws water into the intestine, which gives diarrhoea . It is particularly fat, which will not be admitted. The big fat in the stools give a light, sleek and oily stools (called steatoré).

In the longer term, there is an erosion of many of the pancreas,similar to the lungs. This degradation can also hormonproducerende cells that form the blodsukkerstyrende hormone insulin, are affected. Therefore, developing a part cystic fibrosis patients over time with insulin diabetes .

Cystic fibrosis is due to a mutation (change) in both copies of one particular gene (called CFTR) in our arvemateriale. Of the two copies of our arvemateriale (DNA), one from each parent. Mutation in CFTR are relatively frequent in the Danish population, but because it requires a mutation in both copies of the gene to develop cystic fibrosis, it is a relatively rare disease (1 out of 2400 births).

If you have a mutation in one copy of CFTR, it gets no disease, but is calledbearof the mutation and can give the disease gene on to her children. As shown, both parents have a mutation in the gene together before the child's risk of getting the disease. If both the mother and father are carriers of the cystic fibrosis gene, the risk of the child is given the disease 25%. If only one parent is to bear, the child can not be sick, but there is a 50% risk of giving the gene, and thus bærertilstanden, to the child.

In the technical language it is said that cystic fibrosis belongs to the groupautosomalt recessivehereditary diseases. Read about this and other arvegange in the article genetics .

Symptoms of cystic fibrosis

  • Repeated lungeinfektioner from spædbarnsalderen, including pneumonia . In particular småbarnsalderen Asthmatic bronchitis .

  • Poor well-being: The child has a low weight and height in relation to expected. Welfare assessed using growth curves that show how normal children develop.

  • Malabsorption (error in næringsoptagelsen) with frequent thin afføringer, the high undigested fat is bright and sticky.

  • Glubende appetite.

  • Struttende "round-or chubby cheeks."

  • The child's sweat tastes much salt.

Sjældnere symptoms include:

  • Rektalprolaps (outcome of endetarmen through the passage)

  • Chronic sinusitis

  • Næsepolypper

  • Little gall bladder with galdeblæresten

Precautions and diagnosis

If there is cystic fibrosis in one's family, one can be tested for, whether you are a carrier of the disease gene. This is relevant when you have to have children. Showing blood that both parents are carriers, you get taken a fostervands or moderkageprøve , Which in most cases, to determine whether the child has inherited the disease. See Prevention below.

Have we got a child who does not take on and grow as expected, has long diarrhoea and frequent lungeinfektioner, it should be seen by their own doctor and be tested for cystic fibrosis.

The doctor assumes the diagnosis of the symptoms mentioned. A study of the salt in perspiration make the final diagnosis. A normal svedtest does not exclude cystic fibrosis. If svedtesten is normal, but the suspicion of cystic fibrosis is high, will take a blood sample. This can show if the child has cystic fibrosis, by producing a so-called genotypning, which examines arvematerialet for the defective gene (delta F508).

It is important to get diagnosed and treatment started as early as possible, as this prolong the life.

Treatment of cystic fibrosis

There is currently no treatment that can cure cystic fibrosis. The review will focus on the symptoms.

We are very aware of the rapid diagnosis and treatment of infections in the lungs in patients with cystic fibrosis. You take frequent rutineprøver of secrete from the trachea, which examined for the presence of bacteria. If there is evidence of infection, or detection of bacteria in rutineprøver, will immediately boot aggressive antibiotic treatment. The reason for this is that the frequent lungeinfektioner is one of the main reasons for the destruction of lungevævet. We've found that aggressive treatment can keep the lungs good longer.

Another part of the treatment of lungeinfektionerne is the so-called lung physiotherapy. This helps to empty the cool slime out of the lungs. When the slimy is gone, there is less fertile ground for bacterial growth.

Some people with cystic fibrosis will develop simultaneous astmalignende symptoms, those treated under the same guidelines as regular asthma .

If the lung function is really bad, is a last chance to make a double lungetransplantation, but access to organdonorer is extremely limited.

Stomach-intestinal symptoms
Malabsorption and steatoré dealt with the intake of digestive on prilled before each meal. This ensures that food is digested and absorbed. Often there is a need for extra calories and vitamin to the diet.

Select and complications

Some infants with cystic fibrosis (5-10%) will develop a special form of tarmslyng calledmekoniumsileus. It is an acute life-threatening condition, which is due to the passage through the small intestine is blocked by tough mucus. The treatment is an urgent surgical operation.

Some patients (30%), after 20-year-old insulin diabetes . Most male patients with cystic fibrosis are infertile because of lack of development of sædlederen.

Cystic fibrosis is a fatal disease. Previously, the prognosis is very bad, and lungesvigt and heart failure was the final stage of the disease at an early age. Centralisation of treatment, and aggressive treatment of lungeinfektioner, however, have extended survival significantly, and it seems that this can be further extended.

Today, more than half of cystic fibrosis patients over 40 years.

Prevention of cystic fibrosis

If we know that there are cystic fibrosis in the family, can be referred to be tested for, whether you are a carrier of the gene. If both parents are known carriers of the gene, they should receive genetic counselling on a landsdelscenter, who are specialists in this. If the two kno

Related articles:

Celiac disease in children (Glutenintolerance, Glutenallergi)
Cystic fibrosis
Enkoprese (Missing afføringskontrol)
Fenylketonuri (PKU, Føllings disease)
Hypotyreose in children (Poor functioning of the thyroid, Reduced metabolism)
Infectious hepatitis in children (Viral Hepatitis)
Invagination (Intussusception)
Mælkesukker intolerance (Laktoseintolerans, Laktosemalabsorption)
Vækstforstyrrelser (Nanismus and Gigantismus)



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