Häufiges Symptom - seltene Ursache: Diarrhö bei Immundefizienzsyndrom

Zusammenfassung

Wir berichten über einen 25-jährigen Mann mit einer primären Hypogammaglobulinämie vom Typ „common variable immunodeficiency” (CVID), wobei als deren Komplikation Bronchiektasen und eine nodulär-lymphoide Hyperplasie (NLH) des Dünndarms mit Malabsorption auftraten. Die Diarrhö sistierte unmittelbar nach Beginn einer intravenösen Immunglobulin-(Ig-)Substitution, das Gewicht normalisierte sich, schwere Infekte der oberen Luftwege traten nicht mehr auf. Trotz adäquater Immunglobulinsubstitution (Serum-IgG-Spiegel > 6,7 g/l) kam es in der Folge zu mehreren Diarrhöepisoden bei Lambliasis und einem interkurrenten Infekt mit Campylobacter jejuni. Weiter progredient waren über einen Zeitraum von bald 8 Jahren die Bronchiektasen und die Splenomegalie. Die wichtigsten Krankheitsmanifestationen des in Europa häufigsten primären Immundefektes werden dargestellt und die Therapieoptionen auf der Basis aktueller Studiendaten diskutiert.

Abstract

A 25-year-old male was hospitalized for diarrhea and weight loss. Since childhood he had experienced recurrent episodes of pneumonia and diarrhea. Physical and laboratory findings were compatible with malabsorption. On endoscopy, nodular lymphoid hyperplasia (NLH) of the small intestine was found. Common variable immunodeficiency syndrome (CVID) was suspected and diagnosis was established by demonstrating a significant reduction of plasma gamma-globulin levels. Immediately after starting immunoglobulin treatment diarrhea stopped, and both incidence and severity of pulmonary infections were significantly reduced, while recurrent gastrointestinal infections (notably lambliasis and Campylobacter infections) continued to occur and both bronchiectases and splenomegaly were progressive over years. This case report focuses on CVID as a potential underlying cause of diarrhea. The most important complications of the disease are presented. Therapeutical options are discussed in the light of recently published data.

Schlüsselwörter

Common variable immunodeficiency (CVID) syndrome - Malabsorption - Lambliasis - Campylobacter jejuni

Key words

Common variable immunodeficiency (CVID) syndrome - malabsorption - lambliasis - Campylobacter jejuni

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