Hermansky-Pudlak sendromu

Hermansky-Pudlak sendromu, otosomal resessif aktarılan kalıtsal bir tablodur. 10 fenotipi vardır.[1][2][3]

Başlıca bulgular[1][3]

Göz bulguları baskın (nistagmus, iriste ve retinada pigment azlığı, optik sinir anomalisi, fotofobi)
Deride ve gözlerde pigment eksikliği (oculocutaneous albinism)[4]
Hipopigmentasyon nedenli solar keratoz
Deri kanseri riski
Doğumda beyazımsı saçlar (giderek koyulaşır)
Trombositlerde yoğun trombin, epinefrin ve ADP yüklenmesi nedeniyle oluşan işlevsizlik (disfonksiyon)[5][6][7]
Trombosit disfonksiyonu: Nedensiz ekimozlar, spontan dişeti kanamaları, deri ve mukozalarda peteşiyal/purpurik kanamalar, epistaksis, inatçı çekim yeri ve cerrahi gİrişim kanamaları, sindirim kanalı kanamaları, uzayan mens kanamaları[8]
Dişeti ve burun kanamaları görülen fenotipler: 1, 5-8
Periodontitis ve erken diş yitirilmesi içeren fenotip: 2
Böbreklerde ve akciğerlerde “ceroid” birikimi (lizozomal birikme)
Böbrek yetmezliği
İdiopatik pulmoner fibrozis
Kardiyomyopati
Granülomatöz kolit
Diyare

Kronik diyare kökenli elektrolit dengesizliği, restriktif akciğer hastalığı ile böbrek ve kalp yetmezliği erken yaş ölümlerinin başlıca nedenleridir.[3]

Kaynakça

Maksillofasiyal Sendromlar 14 Haziran 2020 tarihinde Wayback Machine sitesinde arşivlendi.
Anderson PD, Huizing M, Claassen DA, et al. Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics. Human Genetics, 113:10–11, 2003
Huizing M, Malicdan MCV, Gochuico BR, MD, A Gahl WA. Hermansky-Pudlak Syndrome. Gene Reviews. University of Washington, Seattle, October 26, 2017.
Wei AH, Li W. Hermansky-Pudlak syndrome: pigmentary and non-pigmentary defects and their pathogenesis. Pigment Cell & Melanoma Research, 26(2):176-192, 2013
Huizing M, Gahl WA. Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes. Current Molecular Medicine, 2:451–467, 2002
Huizing M, Parkes JM, Helip-Wooley A, et al. Platelet alpha granules in BLOC-2 and BLOC-3 subtypes of Hermansky-Pudlak syndrome. Platelets, 18:150–157, 2007
Huizing M, Helip-Wooley A, Westbroek W, et al. Disorders of Lysosome-Related Organelle Biogenesis: Clinical and Molecular Genetics. Annual Review of Genomics and Human Genetics, 9:359–386, 2008
Haritha A, Jayakumar A. Syndromes as they relate to periodontal disease. Periodontology 2000, 56:65–86, 2011

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[:0-1] Maksillofasiyal Sendromlar 14 Haziran 2020 tarihinde Wayback Machine sitesinde arşivlendi.

[2] Anderson PD, Huizing M, Claassen DA, et al. Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics. Human Genetics, 113:10–11, 2003

[:1-3] Huizing M, Malicdan MCV, Gochuico BR, MD, A Gahl WA. Hermansky-Pudlak Syndrome. Gene Reviews. University of Washington, Seattle, October 26, 2017.

[4] Wei AH, Li W. Hermansky-Pudlak syndrome: pigmentary and non-pigmentary defects and their pathogenesis. Pigment Cell & Melanoma Research, 26(2):176-192, 2013

[5] Huizing M, Gahl WA. Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes. Current Molecular Medicine, 2:451–467, 2002

[6] Huizing M, Parkes JM, Helip-Wooley A, et al. Platelet alpha granules in BLOC-2 and BLOC-3 subtypes of Hermansky-Pudlak syndrome. Platelets, 18:150–157, 2007

[7] Huizing M, Helip-Wooley A, Westbroek W, et al. Disorders of Lysosome-Related Organelle Biogenesis: Clinical and Molecular Genetics. Annual Review of Genomics and Human Genetics, 9:359–386, 2008

[8] Haritha A, Jayakumar A. Syndromes as they relate to periodontal disease. Periodontology 2000, 56:65–86, 2011