Hermansky-Pudlak Syndrome with a Novel Mutation

Iwakawa, Jun; Matsuyama, Wataru; Watanabe, Masaki; Yamamoto, Masuki; Oonakahara, Ken-ichi; Machida, Kentaro; Higashimoto, Ikkou; Niiyama, Takahito; Osame, Mitsuhiro; Arimura, Kimiyoshi

doi:10.2169/internalmedicine.44.733

Cited by 4 publications

(5 citation statements)

References 23 publications

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“…In addition, HPS4 patients characteristically develop severe interstitial pneumonia as well as HPS1 (2,5). The prevalence of HPS1 was shown to be 9.6% among 125 Japanese patients with OCA (12).…”

Section: Discussionmentioning

confidence: 98%

“…HPS1 is the most common subtype and can cause severe comorbidities such as interstitial pneumonia or inflammatory bowel disease (2)(3)(4)(5)11). In addition, HPS4 patients characteristically develop severe interstitial pneumonia as well as HPS1 (2,5).…”

Section: Discussionmentioning

confidence: 99%

“…There are eight known human HPS genes causing different subtypes of HPS (HPS1-8) (2). In particular, patients with HPS1 and HPS4 gene mutations frequently develop interstitial pneumonia, the most serious complication of HPS (3)(4)(5). The pathological features and patterns of interstitial pneumonia in patients with HPS (HPS-IP) have not been fully elucidated, and no effective treatments have been reported (6)(7)(8), except for lung transplantation (9).…”

Section: Introductionmentioning

confidence: 99%

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Hermansky-Pudlak Syndrome with Nonspecific Interstitial Pneumonia

et al. 2014

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We herein report a case of Hermansky-Pudlak syndrome (HPS) with nonspecific interstitial pneumonia (NSIP). A 58-year-old Japanese woman presented with oculocutaneous albinism and dyspnea on exertion. A high resolution computed tomography scan showed areas of reticular and ground glass opacity in the lungs, and a surgical lung biopsy revealed fibrotic NSIP. Foamy type 2 pneumocytes and the absence of dense granules in platelets were also observed, consistent with a diagnosis of HPS. Ultimately, a genetic analysis revealed a mutation in the HPS1 gene. The interstitial pneumonia progressed despite treatment with prednisolone, cyclosporine A and pirfenidone. In this report, we discuss the pathological lung features and treatment of HPS associated with interstitial pneumonia.

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Section: Discussionmentioning

confidence: 98%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Hermansky-Pudlak Syndrome with Nonspecific Interstitial Pneumonia

et al. 2014

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“…Ten genes have been reported as causative genes to date (3). Interstitial pneumonia in patients with HPS (HPS-IP), the leading cause of mortality is frequently associated with HPS1 and HPS4 gene mutations (4)(5)(6). Currently, lung transplantation is the only effective treatment for HPS-IP (7).…”

Section: Introductionmentioning

confidence: 99%

Hermansky-Pudlak Syndrome with an Improvement in the Respiratory Symptoms after the Administration of Pirfenidone: A Case Report

Ono,

Tode,

Yamamoto

et al. 2024

Intern. Med.

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Herein, we report a case of Hermansky-Pudlak syndrome (HPS) in which respiratory symptoms improved with pirfenidone treatment. A 43-year-old Japanese woman with oculocutaneous albinism presented with a cough and dyspnea. High-resolution computed tomography revealed areas of reticular and frosted lung opacities. The diagnosis of HPS was confirmed by a prolonged bleeding time and HPS1 gene mutation. Generally, there is no effective treatment for interstitial pneumonia associated with HPS except for lung transplantation. In the present case, the cough and dyspnea improved with pirfenidone administration. Therefore, clinicians should administer pirfenidone in challenging transplantation cases and during the waiting period for transplantation.

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“…[30][31][32][33][34][35][36][37][38][39][40][41][42][43][44][45]. The aforementioned 16-pb duplication in exon 15 of HPS1 with founder effect in northwest of Puerto Rico causes an extraordinary high prevalence or HPS-1 in this island.…”

mentioning

confidence: 97%

Hermansky-Pudlak syndrome

Sánchez-Guiu¹,

Velasco²,

Antón³

et al. 2014

Hamostaseologie

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Hermansky-Pudlak syndrome (HPS) is a rare, autosomal recessive disorder affecting lysosome-related organelles (LRO), including dense platelet granules. HPS causes oculocutaneous hypopigmentation, bleeding diathesis and granulomatous colitis or pulmonary fibrosis. 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. However, the absence of a specific platelet function test, the wide molecular heterogeneity, and the lack of phenotype-genotype correlations hamper the rapid diagnosis. Nine subtypes of HPS have been identified as a result of mutations in nine genes that codify for proteins involved in formation and shuttle of the LRO. The molecular characterization of patients and knowledge derived from animal models of HPS contribute to the understanding of biogenesis and function of the LRO. This paper describes a patient with a novel homozygous nonsense mutation causing HPS and provides a review of the literature focusing on recent advances in the molecular characterization and physiopathology of HPS.

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Hermansky-Pudlak Syndrome with a Novel Mutation

Abstract: We report a case of Hermansky-Pudlak syndrome (HPS) with a novel mutation in the HPS1 gene. This case showed oculocutaneous albinism and lysosomal ceroid accumulation, however platelet dysfunction was not ob-

Cited by 4 publications

References 23 publications

Hermansky-Pudlak Syndrome with Nonspecific Interstitial Pneumonia

Hermansky-Pudlak Syndrome with Nonspecific Interstitial Pneumonia

Hermansky-Pudlak Syndrome with an Improvement in the Respiratory Symptoms after the Administration of Pirfenidone: A Case Report

Hermansky-Pudlak syndrome

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