Hermansky-Pudlak Syndrome: Health Care Throughout Life

Seward, Samuel L.; Gahl, William A.

doi:10.1542/peds.2012-4003

Cited by 104 publications

(127 citation statements)

References 26 publications

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“…Accumulation of amorphous lipidprotein complexes called ceroids, which increase with age in patients with HPS, has been speculated to be a potential trigger for the development of tissue inflammation, possibly contributing to some of the multiorgan manifestations of HPS (16,23,28,29). …”

Section: Genetic and Functional Abnormalitiesmentioning

confidence: 99%

“…IPF occurs spontaneously in most patients, but research has uncovered some genetic mutations in surfactant proteins, mucins, and telomerases that are considered relevant (1,(3)(4)(5)(6). In contrast, 100% of patients with HPS-1 develop HPS-PF (29). Both HPS-PF and IPF are characterized by irreversible and progressive fibrosis of the lung parenchyma and interalveolar septa, ultimately leading to death from respiratory failure.…”

Section: Focused Review Pulmonary Fibrosis: Clinical Featuresmentioning

confidence: 99%

“…The diagnosis of HPS includes the documentation of oculocutaneous albinism and platelet storage pool deficiency (29). Patients with HPS are potentially identified shortly after birth by their albinism, although the degree of hypopigmentation is variable.…”

Section: Diagnosing Hps and Hpsrelated Pulmonary Fibrosismentioning

confidence: 99%

“…Thus, it is recommended that all patients with HPS-1, HPS-2, and HPS-4 be evaluated for lung function during adolescence and yearly thereafter (29). Pulmonary physiology is best evaluated by pulmonary function tests, including diffusing capacity of the lung for carbon monoxide.…”

Section: Monitoring Progression Of Pulmonary Fibrosismentioning

confidence: 99%

“…Patients with HPS should avoid unprotected eye and skin exposure to the sun because of their albinism. Menometrorrhagia is common in women, but can be lessened with medication (16,29). Further, patients with HPS should avoid aspirin and nonsteroidal antiinflammatory drugs, due to platelet inhibition.…”

Section: Clinical Management Of Pulmonary Fibrosismentioning

confidence: 99%

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Pulmonary Fibrosis in Hermansky-Pudlak Syndrome

et al. 2016

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Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive genetic disorder characterized by oculocutaneous albinism and a bleeding diathesis due to platelet dysfunction. More than 50% of cases worldwide are diagnosed on the Caribbean island of Puerto Rico. Genetic testing plays a growing role in diagnosis; however, not all patients with HPS have identified genetic mutations. In Puerto Rico, patients with HPS are often identified shortly after birth by their albinism, although the degree of hypopigmentation is highly variable. Ten subtypes have been described. Patients with HPS-1, HPS-2, and HPS-4 tend to develop pulmonary fibrosis in Puerto Rico; 100% of patients with HPS-1 develop HPS-PF. HPS-PF and idiopathic pulmonary fibrosis are considered similar entities (albeit with distinct causes) because both can show similar histological disease patterns. However, in contrast to idiopathic pulmonary fibrosis, HPS-PF manifests much earlier, often at 30-40 years of age. The progression of HPS-PF is characterized by the development of dyspnea and increasingly debilitating hypoxemia. No therapeutic interventions are currently approved by the U.S. Food and Drug Administration for the treatment of HPS and HPS-PF. However, the approval of two new antifibrotic drugs, pirfenidone and nintedanib, has prompted new interest in identifying drugs capable of reversing or halting the progression of HPS-PF. Thus, lung transplantation remains the only potentially life-prolonging treatment. At present, two clinical trials are recruiting patients with HPS-PF to identify biomarkers for disease progression. Advances in the diagnosis and management of these patients will require the establishment of multidisciplinary centers of excellence staffed by experts in this disease.

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Section: Genetic and Functional Abnormalitiesmentioning

confidence: 99%

Section: Focused Review Pulmonary Fibrosis: Clinical Featuresmentioning

confidence: 99%

Section: Diagnosing Hps and Hpsrelated Pulmonary Fibrosismentioning

confidence: 99%

Section: Monitoring Progression Of Pulmonary Fibrosismentioning

confidence: 99%

Section: Clinical Management Of Pulmonary Fibrosismentioning

confidence: 99%

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Pulmonary Fibrosis in Hermansky-Pudlak Syndrome

et al. 2016

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Regulation of cargo export and sorting at the trans‐Golgi network

2019

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The sorting and distribution to different final destinations of roughly a third of the membrane and secreted proteins occurs at the level of the trans‐Golgi network (TGN). This TGN mission involves efficient mechanisms of cargo recognition and activation of specific signalling pathways. This is important because protein localization is strictly connected with function, and many aberrant phenotypes may occur when a protein is missorted to the wrong cellular compartment. In this review, we briefly summarize the principal players known to be involved in TGN functions, highlighting the importance of regulatory signalling pathways and also the pathological outcomes of aberrant sorting and export events from the TGN compartment.

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Lysosome‐Related Organelles: Modifications of the Lysosome Paradigm

Mantegazza

Marks

2016

Lysosomes: Biology, Diseases, and Therapeutics

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Hermansky-Pudlak Syndrome: Health Care Throughout Life

Cited by 104 publications

References 26 publications

Pulmonary Fibrosis in Hermansky-Pudlak Syndrome

Pulmonary Fibrosis in Hermansky-Pudlak Syndrome

Regulation of cargo export and sorting at the trans‐Golgi network

Lysosome‐Related Organelles: Modifications of the Lysosome Paradigm

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