Hermansky-Pudlak Syndrome: Case Report
Abstract
INTRODUCTION: Hermansky-Pudlak syndrome is a rare disease of autosomal recessive origin, with low incidences worldwide (1:1000000), except in Puerto Rico, whose incidence approaches 1:1800. It is composed of oculocutaneous albinism, platelet dysfunction and, in some cases, there is pulmonary fibrosis, insufficiency renal and colitis. The diagnosis is made by the clinic, ophthalmological and platelet count exams, as well as genetic testing to evaluate the prognosis. The treatment is based on a multidisciplinary approach to improve the quality of life since there is still no curative treatment. CASE PRESENTATION: The patient, 2 years old, consulted with a pediatrician to evaluate abdominal pain, diarrhea with blood in the stool, and progressive weight loss for 2 months, also reporting a prolonged episode of epistaxis after local trauma. On physical examination, oculocutaneous albinism and pulmonary auscultation with crackling rales at the base are noted. DISCUSSION: the most suitable optical resource was the Galileo 2.8x telescope. The treatment of granulomatous colitis is done through immunomodulatory therapy, performed in the treatment of Crohn's disease. When the disease becomes refractory to treatment with medications, surgical interventions such as colectomy are performed. CONCLUSION: Because it is a rare syndrome and difficult to diagnose, a better understanding of the pathogenesis of Hermansky syndrome is necessary.
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Copyright (c) 2023 Lorenna da Silva Braz, Maurício Jorge , Andrade Junior , Julia Bergamini Gomes, Jully Miranda Porto , Daysa de Carvalho Fonseca , Maria Alice Vieira de Freitas, Katia Caetano de Oliveira , Marcelo Ribeiro Faria , Raiza Santos Pires, Rejane Estrela Araujo, Renata do Couto Gontijo de Deus Vieira , Renato Machado Porto, Claudio Silva Santos , Gabriella Waldraff Teixeira , Hernani Lopes SantanaAuthor(s)
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Lorenna da Silva Braz
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Maurício Jorge
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Andrade Junior
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Julia Bergamini Gomes
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Jully Miranda Porto
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Daysa de Carvalho Fonseca
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Maria Alice Vieira de Freitas
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Katia Caetano de Oliveira
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Marcelo Ribeiro Faria
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Raiza Santos Pires
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Rejane Estrela Araujo
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Renata do Couto Gontijo de Deus Vieira
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Renato Machado Porto
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Claudio Silva Santos
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Gabriella Waldraff Teixeira
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Hernani Lopes Santana
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Júlia Sanches de Velasco