Hermansky-Pudlak Sendromlu Bir Olgu

Abstract

Hermansky-Pudlak Sendromu (HPS) başlangıçta kendini okülokutanöz albinizm ve kanama diyatezi ile gösteren genetik bir bozukluktur. Okülokutanöz albinizm melanosit spesifik proteinlerin yerleşim bozukluğu nedeniyle göz ve deri dokusundaki melanositlerin pigmente melanozomlan sentezleme kabiliyetinin azalmasından kaynaklanır. Kanama diyatezi trombosiderin içindeki delta granül olarak adlandırılan cisimciklerin bulunmaması sonucunda pıhtılaşma etkinliğinin azalması ile ortaya çıkar. Hermansky-Pudlak sendromunun bazı alt tiplerini taşıyan hastalar birtakım dokulardaki stromal hücrelerdeki lizozomal sistemin yetersizliği sonucunda seroid (balmumu) kıvamında madde birikimi ve pulmoner fibrozis geliştirebilirler. Geçirdiği beşinci üst gastrointestinal kanama sırasında tanı koyulan HPS’lu bir olgu, hastalığın tipik özelliklerini sergilemesi açısından nadir bir vaka olması nedeniyle vaka olarak sunulmuştur.

Keywords

• Hermansky-Pudlak
• lipofuskin
• okülokutanöz albinizm

A Case Wıth Hermansky-Pudlak Syndrome

Abstract

Hermansky-Pudlak Syndrome (HPS) is a congenital disorder that presents initially with oculocutaneous albinism and a bleeding diathesis. The oculocutaneous albinism results from the reduced ability of cutaneous and ocular melanocytes to synthesize a pigmented melanosome due to mistrafficking of melanocyte-specific proteins to this organelle. The bleeding diathesis results from the absence of dense bodies within platelets that subsequently compromises clotting efficiency. Patients with some subtypes of HPS can develop a ceroid storage disease and pulmonary fibrosis that may result from impairment of the lysosomal system in stromal cells of various tissues of the body. A subject with HPS, diagnosed during his fifth upper gastrointestinal bleeding, is presented in this present case report for being a rare case demonstrating the typical features of the disease.

Keywords

• Hermansky-Pudlak syndrome
• lipofuscin
• oculocutaneous albinism

References

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