Hermansky–Pudlak Syndrome a Case Report
Keywords:
Dyspnea, Pulmonary Fibrosis, Oculocutanoues Albinism
Abstract
We report a case of Hermansky –Pudlak syndrome in a 34 year old lady who was born of non consanguineous marriage The incidence of HPS is highest in Puerto Rico.There are increasing reports of HPS among Indians. There are only rare case reports where the mode of inheritance is not autosomal recessive.
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References
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6. Hermansky Pudlak syndrome type 4 with interstitial pneumonia Yoshihiko Saketa Kodai Kawamura,Kazuya Ichika Resp Medicine Case Reports 2013;9:38-41.
2. Vincent LM, Adams D, Hess RA, Ziegler SG, Tsilou E, Golas G, O'Brien KJ, White JG, Huizing M, Gahl WA. Hermansky-Pudlak syndrome type 1 in patients of Indian descent.Mol Genet Metab. 2009 Jul;97(3):227-33. [PubMed]
3. Harrison C, Khair K, Baxter B, Russell-Eggitt I, Hann I, Liesner R. Hermansky-Pudlak syndrome: infrequent bleeding and first report of Turkish and Pakistani kindreds.Arch Dis Child. 2002;86(4):297-301. [PubMed]
4. Hermansky-Pudlak Syndrome Type 1 in Patients of Indian Descent Lisa M. Vincent,David Adams, Richard A. Hess, Shira G. Ziegler, Ekaterini Tsilou, Gretchen Golas,Kevin J. O'Brien, James G. White, Marjan Huizing, and William A. Gahl Mol Genet Metab. 2009; 97(3): 227–233. [PubMed]
5. Di Pietro SM, Falcón-Pérez JM, Tenza D, Setty SR, Marks MS, Raposo G, Dell'Angelica EC BLOC-1 interacts with BLOC-2 and the AP-3 complex to facilitate protein trafficking on endosomes.Mol Biol Cell. 2006;17(9):4027-38. Epub 2006 Jul 12.
6. Hermansky Pudlak syndrome type 4 with interstitial pneumonia Yoshihiko Saketa Kodai Kawamura,Kazuya Ichika Resp Medicine Case Reports 2013;9:38-41.
CITATION
DOI: 10.17511/ijmrr.2015.i7.145
Published: 2015-08-31
How to Cite
1.
Grace M, V K S, Akhilesh A, P A. Hermansky–Pudlak Syndrome a Case Report. Int J Med Res Rev [Internet]. 2015Aug.31 [cited 2024Nov.24];3(7):754-6. Available from: https://ijmrr.medresearch.in/index.php/ijmrr/article/view/317
Section
Case Report
OAI - Open Archives Initiative
