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Chronisch-entzündliche Darmerkrankung

Die Nadel im Heuhaufen: Wann steckt ein angeborener Immundefekt dahinter?

Chronic inflammatory bowel disease

Needle in a haystack: when is a primary immunodeficiency responsible?

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Zusammenfassung

Morbus Crohn und Colitis ulcerosa sind die beiden häufigsten chronisch-entz��ndlichen Darmerkrankungen (CED) im Kindesalter. Sie sind durch eine multifaktoriell ausgelöste, chronische Inflammation des Gastrointestinaltrakts (GIT) charakterisiert. Ursächlich ist ein aus dem Takt geratenes Zusammenspiel von Immunregulation, Ernährung, Lebensstil, Darmflora und gestörter epithelialer Barriere bei entsprechender (poly-)genetischer Prädisposition. Bei einem kleinen Teil der CED-PatientInnen besteht jedoch eine monogenetische Ursache für die Beschwerden; hierzu zählen auch primäre Immundefekte (PID). Da die CED-Symptomatik die erste oder einzige Manifestation einer übergeordneten monogenetischen Erkrankung sein kann, ist die richtige Diagnosestellung anspruchsvoll, aber entscheidend für die weitere Diagnostik, Therapie und Prognose der PatientInnen. Die gastrointestinale Symptomatik sowie der makroskopische und mikroskopische Endoskopiebefund ermöglichen häufig keine klinische Abgrenzung zwischen polygenetischer CED und monogenetischen Erkrankungen. Daher ist eine Sensibilisierung für seltene, monogenetische Ursachen die Voraussetzung für eine Risikoabschätzung und Einleitung von zielgerichteten diagnostischen Schritten. Der vorliegende Beitrag bietet hierfür eine Hilfestellung und stützt sich auf ein aktuelles Positionspapier der europäischen Fachgesellschaft für pädiatrische Gastroenterologie (ESPGHAN).

Abstract

Crohn’s disease and ulcerative colitis are the two most frequent types of chronic inflammatory bowel disease (IBD) in childhood. They are characterized by a multifactorial trigger of chronic inflammation of the gastrointestinal tract (GIT). The cause is a disrupted interplay of immune regulation, nutrition, lifestyle, microbiota and leaky epthithelial barrier on the basis of a (poly)genetic predisposition; however, only a very small number of IBD patients are found to have a monogenetic cause of the disorder, including primary immune defects (PID). As the symptoms of IBD can be the first or only manifestation of a superordinate monogenetic disease, the correct diagnosis is challenging but decisive for the further diagnostics, treatment and prognosis of the patients. The gastrointestinal symptoms, the macroscopic and microscopic endoscopic findings frequently do not enable a clinical differentiation between polygenetic IBD and monogenetic diseases. Therefore, a sensitization for rare monogenetic causes is the prerequisite for risk estimation and initiation of targeted diagnostic steps. This article provides help on this matter and is based on the current position paper of the European Society of Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN).

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Danksagung

Wir danken Holm Uhlig (Oxford, UK) für die Korrekturlesung und hilfreichen Tipps beim Erstellen des Manuskripts.

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Authors and Affiliations

  1. Zentrum für Kinder- und Jugendmedizin, Universitätsklinikum Hamburg-Eppendorf, Martinistr. 52, 20246, Hamburg, Deutschland

    D. Tegtmeyer

  2. Universitätsklinikum Leipzig, Leipzig, Deutschland

    G. Flemming

  3. Medizinische Hochschule Hannover, Hannover, Deutschland

    C. Klemann

Authors
  1. D. Tegtmeyer
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  3. C. Klemann
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Correspondence to D. Tegtmeyer.

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Interessenkonflikt

D. Tegtmeyer, G. Flemming und C. Klemann geben an, dass kein Interessenkonflikt besteht.

Für diesen Beitrag wurden von den Autoren keine Studien an Menschen oder Tieren durchgeführt. Für die aufgeführten Studien gelten die jeweils dort angegebenen ethischen Richtlinien.

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Gesine Hansen, Hannover

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Tegtmeyer, D., Flemming, G. & Klemann, C. Chronisch-entzündliche Darmerkrankung. Monatsschr Kinderheilkd 170, 341–347 (2022). https://doi.org/10.1007/s00112-022-01425-8

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