A rare cause of interstitial lung disease: Hermansky-Pudlak syndrome

Hermansky-Pudlak sendromu kanama diyatezi, okülokütanöz albinizm ve dokularda lizozomal “ceroid” lipofuskin pigment depolanması ile karakterize nadir bir hastalıktır. Hastalığa pulmoner fibrozis de eşlik edebilmektedir. Kırk sekiz yaşında Hermansky-Pudlak sendromu tanısı ile izlenen erkek hasta, nefes darlığı şikayeti nedeniyle başvurdu. Toraks bilgisayarlı tomografide her iki akciğer alt lob bazal segmentlerde daha belirgin olmak üzere yaygın interlobüler septal kalınlaşmalar saptandı. Olguda pirfenidon tedavisi planlanmasına rağmen, klinik bozulma gelişti ve hasta solunum yetmezliği nedeniyle kaybedildi. Sonuç olarak bu yazıda, oldukça nadir ve mortal bir hastalık olan Hermansky-Pudlak sendromunun akciğer tutulumuna bağlı pulmoner fibrozisli bir hasta sunulmaktadır.

İnterstisyel akciğer hastalığının nadir bir nedeni: Hermansky-Pudlak sendromu

Hermansky-Pudlak syndrome is a rare disease characterized by bleeding diathesis, oculocutaneous albinism and lysosomal ceroid lipofuscin pigment deposits. Pulmonary fibrosis may also accompany with the disease. A 48-year-old male patient with a diagnosis of Hermansky-Pudlak syndrome admitted with dyspnea. A thorax computed tomography revealed bilateral diffuse interlobular septal thickness which was more prominent in the basal segments of lower lobes. Although pirfenidone therapy was planned, clinical deteroriation developed and patient died because of respiratory failure. In conclusion; this report describes a patient with pulmonary fibrosis caused by lung involvement of Hermansky-Pudlak syndrome which is an extremely rare and mortal disease.

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