Hermansky-Pudlak syndrome in the peripartum period

Hermansky-Pudlak syndrome (HPS) is a disease characterized by the triad of oculocutaneous albinism, bleeding diathesis and organ failure secondary to lysosomal accumulation of ceroid lipofuscin. We report the case of a pregnant woman with HPS who had a successful vaginal delivery with the administration of desmopressin.

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Hermansky-Pudlak Syndrome: A Case Report

Case Reports in Hematology ◽

10.1155/2014/249195 ◽

2014 ◽

Vol 2014 ◽

pp. 1-3

Author(s):

Ilhami Berber ◽

Mehmet Ali Erkurt ◽

Irfan Kuku ◽

Emin Kaya ◽

Mustafa Koroglu ◽

...

Keyword(s):

Electron Microscopy ◽

Differential Diagnosis ◽

Clinical Presentation ◽

Oculocutaneous Albinism ◽

Bleeding Diathesis ◽

Platelet Suspension ◽

Dense Bodies ◽

Recurrent Epistaxis ◽

Visual Problems ◽

Hermansky Pudlak Syndrome

Objective.The aim of this paper is to report the case of a patient diagnosed with Hermansky-Pudlak syndrome, as a result of bleeding diathesis.Clinical Presentation and Intervention.A 23-year-old male presented with recurrent epistaxis and, upon physical examination, was found to be remarkable for albinism and suborbital ecchymosis. The absence of dense bodies in the platelets was demonstrated using electron microscopy. This patient was (slowly) administered one unit of a platelet suspension, and his bleeding decreased considerably.Conclusion.This case shows that Hermansky-Pudlak syndrome should be considered in the differential diagnosis of a patient presenting with bleeding diathesis, when the clinical presentation also includes oculocutaneous albinism and visual problems.

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Living donor renal transplant in a patient with end-stage renal disease due to Hermansky-Pudlak syndrome

BMJ Case Reports ◽

10.1136/bcr-2017-223376 ◽

2018 ◽

pp. bcr-2017-223376 ◽

Cited By ~ 1

Author(s):

Nassreen Abdullah ◽

Niall F Davis ◽

John Quinn ◽

Ponnusamy Mohan

Keyword(s):

Renal Disease ◽

End Stage Renal Disease ◽

Living Donor ◽

Genetic Disorder ◽

Oculocutaneous Albinism ◽

Definitive Treatment ◽

Hermansky Pudlak Syndrome ◽

Stage Renal Disease ◽

End Stage ◽

Ceroid Lipofuscin

Hermansky-Pudlak syndrome (HPS) is a rare genetic disorder characterised by oculocutaneous albinism, bleeding diathesis and end-stage renal disease (ESRD), due to interstitial deposition of ceroid lipofuscin. Renal transplantation is potentially a definitive treatment option for patients with ESRD due to HPS. Herein, we describe the case of a 55-year-old male patient with HPS that successfully underwent a living donor kidney transplant. We also emphasise the importance of multidisciplinary input during the preoperative, perioperative and postoperative phases in this high-risk clinical scenario.

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Clinical case of periostitis in pregnant women complicated by sepsis

Medical alphabet ◽

10.33667/2078-5631-2020-16-61-63 ◽

2020 ◽

pp. 61-63

Author(s):

S. Sh. Kakvaeva ◽

M. A. Magomedova ◽

A. N. Dzhalilova

Keyword(s):

Pregnant Woman ◽

Multiple Organ Failure ◽

Pregnant Women ◽

Organ Failure ◽

Clinical Case ◽

Clinical Observation ◽

Infectious Agent ◽

Modern Medicine ◽

Multiple Organ ◽

Number Of Patients

One of the most serious problems of modern medicine is sepsis. The number of patients undergoing this complication is 20–30 million (WHO) annually and has no tendency to decrease. Sepsis is characterized by severe multiple organ failure due to a violation of the response of the macroorganism to an infectious agent. Moreover, it is dangerous with high mortality. Sepsis often develops in patients with immunodeficiency conditions, which primarily include pregnant women. The article presents a clinical observation of a case of periostitis in a pregnant woman complicated by a septic state.

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Vaginal delivery after giant fibroid myomectomy in a young pregnant woman

Rossiiskii vestnik akushera-ginekologa ◽

10.17116/rosakush20212104194 ◽

2021 ◽

Vol 21 (4) ◽

pp. 94

Author(s):

E.L. Babunashvili ◽

S.N. Buyanova ◽

L.S. Logutova ◽

N.A. Shchukina ◽

M.A. Chechneva ◽

...

Keyword(s):

Pregnant Woman ◽

Vaginal Delivery

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Hermansky-Pudlak Syndrome and Lung Disease: Pathogenesis and Therapeutics

Frontiers in Pharmacology ◽

10.3389/fphar.2021.644671 ◽

2021 ◽

Vol 12 ◽

Author(s):

Pamela Velázquez-Díaz ◽

Erika Nakajima ◽

Parand Sorkhdini ◽

Ashley Hernandez-Gutierrez ◽

Adam Eberle ◽

...

Keyword(s):

Pulmonary Fibrosis ◽

Molecular Mechanisms ◽

Management Strategies ◽

Oculocutaneous Albinism ◽

Alveolar Epithelial Cells ◽

Multisystem Disorder ◽

Alveolar Epithelial ◽

Novel Treatments ◽

Molecular Approaches ◽

Hermansky Pudlak Syndrome

Hermansky-Pudlak Syndrome (HPS) is a rare, genetic, multisystem disorder characterized by oculocutaneous albinism (OCA), bleeding diathesis, immunodeficiency, granulomatous colitis, and pulmonary fibrosis. HPS pulmonary fibrosis (HPS-PF) occurs in 100% of patients with subtype HPS-1 and has a similar presentation to idiopathic pulmonary fibrosis. Upon onset, individuals with HPS-PF have approximately 3 years before experiencing signs of respiratory failure and eventual death. This review aims to summarize current research on HPS along with its associated pulmonary fibrosis and its implications for the development of novel treatments. We will discuss the genetic basis of the disease, its epidemiology, and current therapeutic and clinical management strategies. We continue to review the cellular processes leading to the development of HPS-PF in alveolar epithelial cells, lymphocytes, mast cells, and fibrocytes, along with the molecular mechanisms that contribute to its pathogenesis and may be targeted in the treatment of HPS-PF. Finally, we will discuss emerging new cellular and molecular approaches for studying HPS, including lentiviral-mediated gene transfer, induced pluripotent stem cells (iPSCs), organoid and 3D-modelling, and CRISPR/Cas9-based gene editing approaches.

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A Rare Case of Hermansky-Pudlak Syndrome Involving Bilateral Lung: Histopathologic and Electron Microscopic Findings

American Journal of Clinical Pathology ◽

10.1093/ajcp/aqz113.014 ◽

2019 ◽

Vol 152 (Supplement_1) ◽

pp. S42-S43

Author(s):

Atreyee Basu ◽

Surya Seshan ◽

Luis Angel ◽

Andre Moreira ◽

Fang Zhou

Keyword(s):

Alveolar Macrophages ◽

Lamellar Body ◽

Oculocutaneous Albinism ◽

Electron Microscopic ◽

Restrictive Lung Disease ◽

Breath Sounds ◽

Membrane Bound ◽

Hermansky Pudlak Syndrome ◽

Bilateral Lung ◽

End Stage

Abstract Introduction Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive hereditary disorder characterized by oculocutaneous albinism and bleeding diathesis. Transplantation is often conducted to treat lung fibrosis, which is the most fatal complication of this disease. While the literature discusses the diagnosis of HPS based on genetic testing, radiology, and electron microscopic (EM) findings of platelet granules, there is a paucity of images in the literature illustrating the pulmonary histopathologic and EM features of HPS. Case Report Here we present striking histopathologic and EM images from a case of pulmonary fibrosis due to HPS in a 48-year-old female. The patient presented with restrictive lung disease and bilateral decreased breath sounds with diffuse crackles. She was clinically diagnosed with HPS and underwent bilateral lung transplant. On histopathology, both pneumonectomy specimens showed diffuse interstitial fibrosing and cellular pneumonitis with end-stage remodeling and type II pneumocyte (PC-II) hyperplasia. The PC-IIs had abundant foamy cytoplasm and compressed scalloped nuclei. Alveolar macrophages contained fine brown granules positive for PAS-D stain. EM analysis revealed that the PC-IIs contained numerous lamellated myelin bodies (so-called giant lamellar body degeneration) suggestive of surfactant admixed with lipid and luminal microvilli. The pigmented alveolar macrophages also contained lamellated myelin bodies, as well as clusters of single membrane-bound structures with varying size and electron density admixed with vacuolar and granular debris suggestive of ceroid deposits. Conclusion Based on light microscopy, histochemical analysis, EM, and clinical presentation, it was concluded that our findings were consistent with pulmonary changes as seen in HPS.

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Hermansky–Pudlak Syndrome

Seminars in Respiratory and Critical Care Medicine ◽

10.1055/s-0040-1708088 ◽

2020 ◽

Vol 41 (02) ◽

pp. 238-246

Author(s):

Wilfredo De Jesus Rojas ◽

Lisa R. Young

Keyword(s):

Protein Trafficking ◽

Health Management ◽

Treatment Options ◽

Clinical Manifestations ◽

Autosomal Recessive Disorder ◽

Oculocutaneous Albinism ◽

Clinical Approach ◽

Recessive Mutations ◽

Hermansky Pudlak Syndrome ◽

Traction Bronchiectasis

AbstractHermansky–Pudlak syndrome (HPS) is a multisystemic autosomal recessive disorder characterized by oculocutaneous albinism, bleeding diathesis, and lethal pulmonary fibrosis (PF) in some HPS subtypes. During middle adulthood, ground-glass opacities, reticulation, and traction bronchiectasis develop with progression of PF. HPS is an orphan disease occurring in 1 in 500,000 to 1,000,000 individuals worldwide, though the prevalence is 1 in 1,800 in individuals with Puerto Rican heritage. Recessive mutations or disruptions in HPS genes alter the function of HPS proteins which are components of biogenesis of lysosome-related organelle complexes and are critical for intracellular protein trafficking. Diagnosis and management of HPS-related comorbidities represent a challenge to physicians, and a multidisciplinary clinical approach is necessary for early detection, health management, and surveillance of PF in patients with HPS types 1, 2, and 4. Treatment options for individuals with HPS-PF include pirfenidone and lung transplantation. In this article, we describe the epidemiology, genetics, clinical manifestations, and management of HPS.

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