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Mucoviscidosis

Synonyms: cystic fibrosis, CF

1 Definition

Mucoviscidosis is an inheritable disease with an average risk of 1:2.500 births. Due to an alteration in chloride channels, symptoms in multiple organs can occur.

2 Pathology

The reason for mucoviscidosis is a genetic mutation on chromosome 7 in the CFTR (cystic fibrosis transmembrane regulator) gene. There is a variety of mutations resulting in different severities of the disease. The majority of mutations however, are in the aminoacid phenylalanine at position 508 (ΔF508-CFTR).

The secretion of chloride into secretes is thus altered or impossible, leading to higher viscosity in the secrete because of the missing osmotic effect of chloride, leading to impaired flow and, ultimately blockage. Organ parts distal to the obstruction are, consequently, endangered by multiple remodeling, proteolytic or infectious processes.

3 Symptoms

The symptoms of cystic fibrosis can include all exocrine glands, and thus, many organs. Early signs and symptoms are salty taste of the skin, poor weight gain despite of normal nutrition, and growth below average. One of the earliest presentations is meconium ileus and bowel obstruction.

Lungs: Viscous mucus leads to shortness of breath and frequent coughing. Due to the mucus obstruction, the ciliary clearance is impaired, resulting in inflammation and increased amounts of infections. Eventually, in the chronic stadium, bronchiectases develop and the cystic fibrosis leads to an obstructive pulmonary disease.

Sinus: chronic sinusitis / Polyposis nasi

Pancreas: The exocrine pancreatic insufficiency leads to maldigestion. Consequences are fatty stools, abdominal pain and, in the chronic phase, rectal prolapse.

Gall bladder/liver: cholezystolithiasis, cholestasis, fatty liver

Fertility: Male patients are infertile due to obliteration of the Vas deferens. Female patients have reduced fertility due to impaired menstruation.

4 Complications

Lung:

Liver:

Bones:

5 Diagnosis

A screening in newborns is available, it is performed as a standard test in most hospitals (in Germany).

1. immune reactive Trypsin in capillary blood

2. if three Trypsin tests have been positive, a sweat test can prove the diagnosis if NaCl is increased.

6 Therapy

There is no causal therapy for mucoviscidosis.

However, symptomatic therapy can improve the quality of life for the patients and increase the life expectancy.

  • increased fluid and electrolyte therapy, secretolytic therapy
  • inhalation of DNAse to decrease viscosity of the mucus
  • antibiotic therapy in case of pulmonary infections

7 Prognosis

The life expectancy is, in average, 35 years. However, under therapy, life expectancy can be improved through therapy to >40 years. The pulmonary condition is predictive for the development of the disease.

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