Hermansky-Pudlak Sendromlu Bir Olgu

Öz

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.

Anahtar Kelimeler

• Hermansky-Pudlak
• lipofuskin
• okülokutanöz albinizm

A Case Wıth Hermansky-Pudlak Syndrome

Öz

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.

Anahtar Kelimeler

• Hermansky-Pudlak syndrome
• lipofuscin
• oculocutaneous albinism

Kaynakça

1. 1. lannello S, Fabbri G, Bosco P, et al. A clinical variant of familial Hermansky-Pudlak syndrome. Med Gen Med 2003;5:3.
2. 2. Poddar R K, Coley S, Pavord S. Hermansky-Pudlak syndrome in a pregnant patient. Br J Anaesth 2004; 93:740-2.
3. 3. Di Pietro SM, Dell’Angelica EC. The cell biology of Hermansky-Pudlak syndrome: Recent advances. Traffic 2005; 6: 525-33.
4. 4. Gahl WA, Brandy M, Kaiser-Kupfer MI, et al. Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome). N Engl J Med 1998; 338: 1258-64.
5. 5. Brandy M, Avila NA, Shotelersuk V, Lucero C, Huizing M, Gahl WA. Pulmonary Function and High-Resolution CT Findings in Patients With an Inherited Form of Pulmonary Fibrosis, Hermansky-Pudlak Syndrome, Due to Mutations in HPS-1. Chest 2000;117:129-136.
6. 6. Witkop CJ, Krumwiede M, Sedano H, White JG. Reliability of absent platelet dense bodies as a diagnostic criterion for Hermansky-Pudlak syndrome. Am J Hematol 1987;26:305-11.
7. 7. Huizing M, Anikster Y, Fitzpatrick DL, et al. Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other nonPuerto Rican patients with hypopigmentation and platelet storage-pool deficiency. Am J Hum Genet 2001;69:1022-32.
8. 8. Huizing M, Fitzpatrick DL, Jeong AB, et al. Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and ather nonPuerto Rican patients with hypopigmentation and platelet storage-pool defiency. Am J Hum Genet 2001; 69:1022-32.