„Nicht schon wieder ein Pneumothorax“ – Fallbericht Birt-Hogg-Dubé-Syndrom

Zusammenfassung

Falldarstellung eines 40-jährigen Patienten mit rezidivierend spontan auftretenden Pneumothoraces in der Vorgeschichte. Neben einer konservativen Versorgung eines Pneumothorax auf der linken Seite erfolgte eine subtotale parietale Pleurektomie rechts nach einem Pneumothorax 6 Jahre später. In der durchgeführten CT-Thoraxuntersuchung zeigt sich ein hochgradiger struktureller Umbau des Lungenparenchyms im Sinne von multiplen pulmonalen Zysten beidseits mit einer Größe von bis zu 7,5 cm. Nach Ausschluss eines alpha-1-Antitrypsinmangels, einer immunologischen Grunderkrankung, unauffälliger Familien- und Berufsanamnese wird aufgrund des CT-morphologischen Verteilungsmusters der zystischen Veränderungen der Verdacht auf ein Birt-Hogg-Dubé-Syndrom gestellt. In der durchgeführten genetischen Untersuchung erfolgt ein Nachweis der krankheitsauslösenden, pathogenen Variante c.1294_1298del;p.(Ser432Argfs*22) im FLCN-Gen in heterozygotem Zustand. Das Birt-Hogg-Dubé-Syndrom ist eine seltene genetische Erkrankung, die klinisch durch pulmonale Zysten, Fibrofollikulome der Haut und das gehäufte Auftreten von Nierentumoren charakterisiert ist. Insbesondere das erhöhte Risiko für maligne Tumoren der Niere sowie das Risiko für Spontanpneumothoraces unterstreicht die Wichtigkeit einer frühen Diagnose und Durchführung von Vorsorgeuntersuchungen bei betroffenen Patienten und deren Angehörigen.

Abstract

Case discussion of a 40-year-old male patient with a history of recurrent pneumothoraces due to Birt-Hogg-Dubé syndrome. In addition to conservative treatment of a pneumothorax on the left side, a subtotal parietal pleurectomy on the right side was performed after recurrence of a pneumothorax 6 years later. CT of the thorax showed high-grade structural remodelling of the lung parenchyma with cystic lung lesions on both sides with a diameter of up to 7.5 cm. After exclusion of alpha-1 antitrypsin deficiency, underlying immunological disease, unremarkable family and occupational history, Birt-Hogg-Dubé syndrome was suspected based on the morphological distribution pattern of the cystic lung lesions. Genetic examination helped detect a heterozygous pathogenic variant in the FLCN gene, namely c.1294_1298del;p.(Ser432Argfs*22). Birt-Hogg-Dubé syndrome is a rare genetic disorder clinically characterized by pulmonary cysts, fibrofolliculomas of the skin and occurrence of clustered renal tumors. In particular, the increased risk of renal malignancies and the risk of spontaneous pneumothoraces underlines the importance of early diagnosis and screening of affected patients and their families.

Schlüsselwörter

Birt-Hogg-Dubé-Syndrom - pulmonale Zysten - Pneumothorax

Keywords

Birt-Hogg-Dubé syndrome - pulmonary cysts - pneumothorax

Publikationsverlauf

Eingereicht: 30. Oktober 2022

Angenommen nach Revision: 01. Februar 2023

Artikel online veröffentlicht:
09. Mai 2023

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