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2019, Number 1

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Rev Hematol Mex 2019; 20 (1)

Hermansky-Pudlak syndrome

Ramos B, Álvarez J, Sardinas S, Vásquez S

Language: Spanish
References: 24
Page: 49-53
PDF size: 254.84 Kb.


ABSTRACT

Hermansky-Pudlak syndrome is an autosomal recessive disorder characterized by oculocutaneous albinism, platelet dysfunction associated with hemorrhage, and lysosomal storage defects; that in some individuals produces pulmonary fibrosis, granulomatous colitis, renal alterations or immunodeficiency. This paper reports the case of a female adolescent, with a history of repetitive hospitalizations for epistaxis and rectal bleeding. In the last hospitalization, she was admitted with a more intense clinical picture with pain and abdominal distension, rectorrhagia and lipothymia; requiring transfusional and antifibrinolytic therapy. Physical examination emphasized oculocutaneous albinism, without ecchymotic lesions or bruises. In 2016 patient was diagnosed with pulmonary fibrosis treated with bronchodilators. The initial clinical manifestation of oculocutaneous albinism and hemorrhagic diathesis is fundamental for the suspicion of Hermansky-Pudlak syndrome, which must be confirmed by the absence of delta granules in the platelets through electron microscopy. Despite knowledge of genetic defects, there are currently no definitive therapeutic or preventive approaches for pulmonary fibrosis with Hermansky-Pudlak syndrome other than lung transplantation.


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