Zusammenfassung
Die Mukoviszidose ist eine autosomal rezessiv vererbte chronische Erkrankung der exokrinen
Drüsen mit verkürzter Lebenserwartung. Die häufigste Mutation ΔF508, das Fehlen eines Phenylalanins an Position 508 des CFTR-Gens auf dem Chromosom 7,
ist mit einer Pankreasinsuffizienz assoziiert. Mehr als ein Drittel der Patienten
mit Mukoviszidose ist untergewichtig, wobei die Rate mit dem Alter und mit zunehmendem
Krankheitsgrad steigt. Die Energiebilanz ist häufig gestört. Dazu trägt nicht nur
die Pankreasinsuffizienz bei, sondern auch der bei vielen Patienten erhöhte Ruheenergieumsatz.
Er ist bei mittelgradiger bis schwerer Atemwegsobstruktion häufig erhöht, während
klinisch unauffällige Patienten einen normalen REE aufweisen. Therapeutische Interventionen,
die auf eine Behandlung der Lungenerkrankung abzielen, z. B. intravenöse Antibiotikatherapien,
verbessern nicht nur die Lungenfunktion, sondern reduzieren auch den Ruheenergieumsatz
bei Patienten, die zuvor erhöhte Werte hatten. Eine wesentliche Ursache für den erhöhten
REE ist der vermehrte Sauerstoffverbrauch der Atemmuskulatur durch die bei Obstruktion
erschwerte Atemarbeit. Es gibt auch Hinweise für eine Beeinflussung des REE durch
den Basisdefekt selbst, jedoch dürfte dieser Effekt quantitativ gering sein. Bei Untergewicht
oder Gewichtsstagnation sollte die Messung oder (mukoviszidosespezifische) Berechnung
des Ruheenergieumsatzes Bestandteil der ernährungsmedizinischen Diagnostik sein.
Energy Expenditure in Cystic Fibrosis
Cystic fibrosis (CF) is a chronic inherited disease of exocrine glands with an adverse
effect on life-span. The most frequent mutation ΔF508, is characterised by a deletion of phenylalanine at position 508 of the CFTR gene,
and is associated with malabsorption due to pancreatic insufficiency. More than one-third
of patients is malnourished with increasing frequency at an advanced age and with
increased severity of disease. Energy balance is often disturbed, not only due to
pancreatic malfunction, but also because of an increase in resting energy expenditure
(REE). Moderate to severe airways obstruction is often associated with increased REE,
while patients in good clinical condition usually have normal energy expenditure.
Therapeutic interventions aimed at improving lung disease, e.g. treatment with intravenous
antibiotics, not only increase respiratory function, but also reduce REE in subjects
with previously increased energy expenditure. Oxygen cost of breathing is higher due
to airflow obstruction, and this is a major reason for increased REE. Evidence for
a direct genetic cause has been reported; however, its effect must be quantitatively
minimal. In CF patients with weight loss or insufficient weight gain, energy expenditure
should be determined or calculated as part of a detailed nutritional assessment.
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Priv.-Doz. Dr. med. Gratiana Steinkamp
Schellingstraße 5a
30625 Hannover
Email: gratiana.steinkamp@t-online.de
