Hermansky-Pudlak sendromu

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

Başlıca bulgular[1][3]

değiştir

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

Kaynakça

değiştir
  1. ^ a b 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
  3. ^ a b c 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