Symptoma

Hermanski-Pudlak Syndrome

HPS

The patient presented with severe neutropenia, ocular albinism, interstitial pulmonary fibrosis, hemorrhagic diathesis, and an absence of platelet-dense granules. Copyright 2016 University of Texas at Austin Dell Medical School. [ncbi.nlm.nih.gov]

(Outcomes/Resolutions) The prognosis for Hermansky-Pudlak Syndrome depends upon the severity of signs and symptoms presented Individuals with HPS, who exhibit mild symptoms and presentations, may have a normal life; unless, any complications develop However [dovemed.com]

  • Easy Bruising

    RESULTS: A 6-year old Paraguayan male presented with hypopigmentation, ocular albinism, nystagmus, reduced visual acuity, and easy bruising. [ncbi.nlm.nih.gov]

    HPS patients may experience frequent epistaxis, easy bruising, and prolonged bleeding with injury or surgery. [preventiongenetics.com]

    bruising. 61 Power B...Gochuico BR 30791930 2019 42 Crohn's-like acute severe colitis associated with Hermansky-Pudlak syndrome: A case report. 61 Girot P...Bourreille A 30833808 2019 43 Plasma lipidomic profiling in murine mutants of Hermansky-Pudlak [malacards.org]

    The bleeding diathesis can result in easy bruising, frequent epistaxis, gingival bleeding, postpartum hemorrhage, colonic bleeding, and prolonged bleeding with menses or after tooth extraction, circumcision, and other surgeries. [flybase.org]

  • Falling

    MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines. [mybiosource.com]

    United States of America. 2 Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America. 3 Advanced Lung Disease and Transplant Program, Inova Fairfax Hospital, Falls [ncbi.nlm.nih.gov]

  • Pediatric Disease

    Diseases Acrokeratoelastoidosis Acropustulosis of Infancy Acute Hemorrhagic Edema of Infancy Alezzandrini Syndrome Aplasia Cutis Congenita Asymmetric Periflexural Exanthem of Childhood Ataxia-Telangiectasia Atrophia Maculosa Varioliformis Cutis Bloom [dokterairlangga.com]

  • Dyspnea

    A 48-year-old male patient with a diagnosis of Hermansky-Pudlak syndrome admitted with dyspnea. A thorax computed tomography revealed bilateral diffuse interlobular septal thickness which was more prominent in the basal segments of lower lobes. [ncbi.nlm.nih.gov]

  • Tachycardia

    He also had tachycardia and tachypnea with grade 3 digital clubbing. On auscultation of chest there was presence of bilateral basal fine end inspiratory velcro-like crackles. Other systemic examinations were normal. [mjmsr.net]

  • Intracranial Hemorrhage

    We describe a patient diagnosed with platelet dense granule storage pool deficiency (DG-SPD) at age 38 years after he presented with spontaneous intracranial hemorrhage. His mild oculocutaneous hypopigmentation was subtle. [ncbi.nlm.nih.gov]

Hence, the knowledge regarding HPS and its workup is essential. Early screening of HPS patients for PF and intervention with long-term oxygen therapy (LTOT) and antifibrotics will reduce the morbidity. [jacpjournal.org]

To date, there is no curative treatment and the clinical management depends on the severity of symptoms. A prompt diagnosis of HPS patients could improve their quality of life and clinical management. [ncbi.nlm.nih.gov]

Most of the treatment measures are typically related to correction of ocular defects and preservation of eye functionality. [dovemed.com]

Without treatment death typically occurs between 45 and 55. Several treatments are being investigated at the National Institutes of Health. (See standard of care.) [hpsnetwork.org]

This report highlights the importance of typing HPS to counsel patients regarding disease prognosis. [ncbi.nlm.nih.gov]

most cases of HPS are fatal and the prognosis is generally poor. [dovemed.com]

Abstract The etiology of Hermansky-Pudlak syndrome (HPS) pulmonary fibrosis (HPSPF), a progressive interstitial lung disease with high mortality, is unknown. Galectin-3 is a β-galactoside-binding lectin with profibrotic effects. [ncbi.nlm.nih.gov]

(Etiology) Hermansky-Pudlak Syndrome is the result of defective metabolic reactions with complex genetic mutations. [dovemed.com]

Relevant External Links for HPS1 Genetic Association Database (GAD) HPS1 Human Genome Epidemiology (HuGE) Navigator HPS1 Atlas of Genetics and Cytogenetics in Oncology and Haematology: HPS1 No data available for Genatlas for HPS1 Gene A comprehensive [genecards.org]

Each chapter focuses on the pathogenic mechanisms and therapeutic targets suggested by basic research and follows an easy to read format: brief introduction followed by discussion of epidemiology, genetic basis and molecular pathogenesis, animal models [books.google.com]

Summary Epidemiology Prevalence is estimated at 1/500,000 - 1/1,000,000 in non-Puerto Rican populations. In northwestern Puerto Rico the prevalence of HPS-1 is 1/1,800. [orpha.net]

Epidemiologic studies report that in this region, 1 out of 1,800 persons has the syndrome. In this area, approximately 1 out of 21 persons carries the gene encoding for HPS type 1. [emedicine.medscape.com]

Epidemiologic studies report that in this region, 1 out of 1,800 persons has the syndrome. In this area, approximately 1 out of 21 persons carries the gene encoding for HPS Type 1. [lungindia.com]

In this report, we discuss the pathophysiologic features of HPS and the prophylactic administration of 1-deamino-8-arginine-vasopression during labor to minimize blood loss. [ncbi.nlm.nih.gov]

Report of three cases and review of pathophysiology and management considerations. 56 DePinho RA...Kaplan KL 3921802 1985 22 [Hermansky-Pudlak syndrome in a Valais village]. 56 Lattion F...Frenck E 6668200 1983 23 Hermansky-Pudlak syndrome with granulomatous [malacards.org]

Pathophysiology Melanosomes and dense granules in platelets are lysosome related organelles. [dermatologyadvisor.com]

It is not clear from the known pathophysiology of HPS whether conventional therapy for CD is as effective in HPS-associated enterocolitis as in CD. [acgcasereports.gi.org]

"Hermansky-Pudlak Syndrome: Background, Pathophysiology, Epidemiology". 13 June 2017. "Hermansky-Pudlak Syndrome". Hermansky–Pudlak Syndrome. University of Washington, Seattle. 1993. Retrieved 24 November 2008. [en.wikipedia.org]

Currently, there are no specific methods or guidelines to prevent Hermansky-Pudlak Syndrome genetic condition Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy [dovemed.com]

The DDAVP prophylaxis at the first delivery of our patient did not prevent the severe haemorrhagic sequeal requiring transfusion of packed red cells and platelets, but the same preventive measure was successful at her second childbirth. [ncbi.nlm.nih.gov]