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[PMID]: 28296950
[Au] Autor:Stephen J; Yokoyama T; Tolman NJ; O'Brien KJ; Nicoli ER; Brooks BP; Huryn L; Titus SA; Adams DR; Chen D; Gahl WA; Gochuico BR; Malicdan MC
[Ad] Address:Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America.
[Ti] Title:Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5.
[So] Source:PLoS One;12(3):e0173682, 2017.
[Is] ISSN:1932-6203
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Hermansky-Pudlak syndrome (HPS) is a heterogeneous group of genetic disorders typically manifesting with tyrosinase-positive oculocutaneous albinism, bleeding diathesis, and pulmonary fibrosis, in some subtypes. Most HPS subtypes are associated with defects in Biogenesis of Lysosome-related Organelle Complexes (BLOCs), which are groups of proteins that function together in the formation and/or trafficking of lysosomal-related endosomal compartments. BLOC-2, for example, consists of the proteins HPS3, HPS5, and HPS6. Here we present an HPS patient with defective BLOC-2 due to a novel intronic mutation in HPS5 that activates a cryptic acceptor splice site. This mutation leads to the insertion of nine nucleotides in-frame and results in a reduced amount of HPS5 at the transcript and protein level. In studies using skin fibroblasts derived from the proband and two other individuals with HPS-5, we found a perinuclear distribution of acidified organelles in patient cells compared to controls. Our results suggest the role of HPS5 in the endo-lysosomal dynamics of skin fibroblasts.
[Mh] MeSH terms primary: Hermanski-Pudlak Syndrome/pathology
[Mh] MeSH terms secundary: Hermanski-Pudlak Syndrome/genetics
Humans
Mutation
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1709
[Cu] Class update date: 170907
[Lr] Last revision date:170907
[Js] Journal subset:IM
[Da] Date of entry for processing:170316
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0173682

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[PMID]: 28289846
[Au] Autor:Li Y; Geng X; Bao L; Elaswad A; Huggins KW; Dunham R; Liu Z
[Ad] Address:Aquatic Genomics Unit, Fish Molecular Genetics and Biotechnology Laboratory, School of Fisheries, Aquaculture and Aquatic Sciences, Auburn University, Auburn, AL, 36849, USA.
[Ti] Title:A deletion in the Hermansky-Pudlak syndrome 4 (Hps4) gene appears to be responsible for albinism in channel catfish.
[So] Source:Mol Genet Genomics;292(3):663-670, 2017 Jun.
[Is] ISSN:1617-4623
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:Albinism is caused by a series of genetic abnormalities leading to reduction of melanin production. Albinism is quite frequent in catfish, but the causative gene and the molecular basis were unknown. In this study, we conducted a genome-wide association study (GWAS) using the 250 K SNP array. The GWAS analysis allowed mapping of the albino phenotype in the Hermansky-Pudlak syndrome 4 (Hps4) gene, which is known to be involved in melanosome biosynthesis. Sequencing analysis revealed that a 99-bp deletion was present in all analyzed albino catfish at the intron 2 and exon 3 junction. This deletion led to the skipping of the entire exon 3 which was confirmed by RT-PCR. Therefore, Hps4 was determined to be the candidate gene of the catfish albinism.
[Mh] MeSH terms primary: Fish Proteins/genetics
Hermanski-Pudlak Syndrome/genetics
Ictaluridae/genetics
[Mh] MeSH terms secundary: Animals
Base Sequence
Genome-Wide Association Study
Genotype
Melanins/biosynthesis
Phenotype
Polymorphism, Single Nucleotide/genetics
Sequence Analysis, DNA
Sequence Deletion/genetics
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (Fish Proteins); 0 (Melanins)
[Em] Entry month:1708
[Cu] Class update date: 171007
[Lr] Last revision date:171007
[Js] Journal subset:IM
[Da] Date of entry for processing:170315
[St] Status:MEDLINE
[do] DOI:10.1007/s00438-017-1302-8

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[PMID]: 28259707
[Au] Autor:Bryan MM; Tolman NJ; Simon KL; Huizing M; Hufnagel RB; Brooks BP; Speransky V; Mullikin JC; Gahl WA; Malicdan MC; Gochuico BR
[Ad] Address:Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, Bethesda, MD 20892, USA.
[Ti] Title:Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS.
[So] Source:Mol Genet Metab;120(4):378-383, 2017 Apr.
[Is] ISSN:1096-7206
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:PURPOSE: Hermansky-Pudlak syndrome (HPS) is a rare inherited disorder with ten reported genetic types; each type has defects in subunits of either Adaptor Protein-3 complex or Biogenesis of Lysosome-related Organelles Complex (BLOC)-1, -2, or -3. Very few patients with BLOC-1 deficiency (HPS-7, -8, and -9 types) have been diagnosed. We report results of comprehensive clinical testing and molecular analyses of primary fibroblasts from a new case of HPS-7. RESULTS: A 6-year old Paraguayan male presented with hypopigmentation, ocular albinism, nystagmus, reduced visual acuity, and easy bruising. He also experienced delayed motor and language development as a very young child; head and chest trauma resulted in intracranial hemorrhage with subsequent right hemiparesis and lung scarring. There was no clinical evidence of immunodeficiency or colitis. Whole mount transmission electron microscopy revealed absent platelet delta granules; platelet aggregation testing was abnormal. Exome sequencing revealed a homozygous nonsense mutation in the Dystrobrevin binding protein 1 (DTNBP1) gene [NM_032122.4: c.307C>T; p.Gln103*], previously reported in a Portuguese adult. The gene encodes the dysbindin subunit of BLOC-1. Dysbindin protein expression was negligible in our patient's dermal fibroblasts, while his DTNBP1 mRNA level was similar to that of a normal control. CONCLUSIONS: Comprehensive clinical evaluation of the first pediatric case reported with HPS-7 reveals oculocutaneous albinism and platelet storage pool deficiency; his phenotype is consistent with findings in other patients with BLOC-1 disorders. This patient's markedly reduced Dysbindin protein expression in HPS-7 resulted from a mechanism other than nonsense mediated decay.
[Mh] MeSH terms primary: Codon, Nonsense
Dystrophin-Associated Proteins/genetics
Hermanski-Pudlak Syndrome/pathology
[Mh] MeSH terms secundary: Child
Dysbindin
Dystrophin-Associated Proteins/metabolism
Exome
Hermanski-Pudlak Syndrome/genetics
Hermanski-Pudlak Syndrome/metabolism
Humans
Male
Sequence Analysis, DNA
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Nm] Name of substance:0 (Codon, Nonsense); 0 (DTNBP1 protein, human); 0 (Dysbindin); 0 (Dystrophin-Associated Proteins)
[Em] Entry month:1708
[Cu] Class update date: 171116
[Lr] Last revision date:171116
[Js] Journal subset:IM
[Da] Date of entry for processing:170306
[St] Status:MEDLINE

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[PMID]: 27917594
[Au] Autor:Andres O; Wiegering V; König EM; Schneider AL; Semeniak D; Stritt S; Klopocki E; Schulze H
[Ad] Address:University Children's Hospital Würzburg, University of Würzburg, Germany.
[Ti] Title:A novel two-nucleotide deletion in HPS6 affects mepacrine uptake and platelet dense granule secretion in a family with Hermansky-Pudlak syndrome.
[So] Source:Pediatr Blood Cancer;64(5), 2017 May.
[Is] ISSN:1545-5017
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:BACKGROUND: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disease characterized by oculocutaneous albinism and platelet dysfunction. We report on a novel HPS6 homozygous frameshift variant (c.1919_1920delTC; p.Val640Glyfs*29) in a nonconsanguineous Caucasian family with two affected siblings (index patients) who presented with oculocutaneous albinism at birth and a mild bleeding phenotype during childhood and adolescence. PROCEDURE: Genetic analysis was conducted by panel-based next-generation sequencing (NGS) and Sanger sequencing. Platelets of the index patients, their parents, and the unaffected sister were then comprehensively evaluated by luminoaggregometry, whole blood flow cytometry, immunoblotting, immunofluorescence, and transmission electron microscopy. RESULTS: The homozygous frameshift variant in HPS6 gene detected by panel-based NGS and its segregation in the family was confirmed by Sanger sequencing. Flow cytometric analysis of the patients' platelets revealed a substantially decreased mepacrine uptake and release upon activation with a thrombin receptor agonist. Electron microscopy of resting platelets confirmed diminished dense granule content and enhanced vacuolization. Reduced release of adenosine triphosphate and CD63 neoexposition upon activation indicated not only a lack of dense granule content, but even an impairment of dense granule release. CONCLUSIONS: Our results demonstrate that the novel loss-of-function variant in the HPS6 subunit of biogenesis of lysosome-related organelles complex 2 is pathologic and leads to a reduced platelet dense granules and their release. The findings are compatible with an impaired platelet function and hence an enhanced bleeding risk. In future, a valid genotype-phenotype correlation may translate into best supportive care, especially regarding elective surgery or trauma management.
[Mh] MeSH terms primary: Antineoplastic Agents/metabolism
Blood Platelets/secretion
Hermanski-Pudlak Syndrome/genetics
Intracellular Signaling Peptides and Proteins/genetics
Quinacrine/metabolism
[Mh] MeSH terms secundary: Adenosine Triphosphate/secretion
Adolescent
Base Sequence
Biological Transport/genetics
Blood Platelets/cytology
Child
Female
Flow Cytometry
Frameshift Mutation/genetics
Genetic Association Studies
High-Throughput Nucleotide Sequencing
Humans
Male
Microscopy, Electron
Sequence Analysis, DNA
Sequence Deletion/genetics
Tetraspanin 30/secretion
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Nm] Name of substance:0 (Antineoplastic Agents); 0 (HPS6 protein, human); 0 (Intracellular Signaling Peptides and Proteins); 0 (Tetraspanin 30); 8L70Q75FXE (Adenosine Triphosphate); H0C805XYDE (Quinacrine)
[Em] Entry month:1706
[Cu] Class update date: 171116
[Lr] Last revision date:171116
[Js] Journal subset:IM
[Da] Date of entry for processing:161206
[St] Status:MEDLINE
[do] DOI:10.1002/pbc.26320

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[PMID]: 27766632
[Au] Autor:Gil-Krzewska A; Murakami Y; Peruzzi G; O'Brien KJ; Merideth MA; Cullinane AR; Gahl WA; Coligan JE; Gochuico BR; Krzewski K
[Ad] Address:Receptor Cell Biology Section, Laboratory of Immunogenetics, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Rockville, MD, USA.
[Ti] Title:Natural killer cell activity and dysfunction in Hermansky-Pudlak syndrome.
[So] Source:Br J Haematol;176(1):118-123, 2017 Jan.
[Is] ISSN:1365-2141
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Hermansky-Pudlak syndrome (HPS) encompasses disorders with abnormal function of lysosomes and lysosome-related organelles, and some patients who develop immunodeficiency. The basic mechanisms contributing to immune dysfunction in HPS are ill-defined. We analysed natural killer (NK) cells from patients diagnosed with HPS-1, HPS-2, HPS-4, and an unreported HPS subtype. NK cells from an HPS-2 and an unreported HPS subtype share a similar cellular phenotype with defective granule release and cytotoxicity, but differ in cytokine exocytosis. Defining NK cell activity in several types of HPS provides insights into cellular defects of the disorder and understanding of mechanisms contributing to HPS pathogenesis.
[Mh] MeSH terms primary: Hermanski-Pudlak Syndrome/pathology
Killer Cells, Natural/pathology
[Mh] MeSH terms secundary: Cells, Cultured
Cytoplasmic Granules/metabolism
Cytotoxicity, Immunologic
Exocytosis
Hermanski-Pudlak Syndrome/classification
Hermanski-Pudlak Syndrome/etiology
Hermanski-Pudlak Syndrome/immunology
Humans
Killer Cells, Natural/immunology
Killer Cells, Natural/metabolism
Phenotype
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1705
[Cu] Class update date: 170518
[Lr] Last revision date:170518
[Js] Journal subset:IM
[Da] Date of entry for processing:161022
[St] Status:MEDLINE
[do] DOI:10.1111/bjh.14390

  6 / 324 MEDLINE  
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[PMID]: 27595926
[Au] Autor:Nakayama T; Nakajima K; Cox A; Fisher M; Howell M; Fish MB; Yaoita Y; Grainger RM
[Ad] Address:Department of Biology, University of Virginia, Charlottesville, VA 22904, USA.
[Ti] Title:no privacy, a Xenopus tropicalis mutant, is a model of human Hermansky-Pudlak Syndrome and allows visualization of internal organogenesis during tadpole development.
[So] Source:Dev Biol;426(2):472-486, 2017 06 15.
[Is] ISSN:1095-564X
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:We describe a novel recessive and nonlethal pigmentation mutant in Xenopus tropicalis. The mutant phenotype can be initially observed in tadpoles after stage 39/40, when mutant embryos display markedly reduced pigmentation in the retina and the trunk. By tadpole stage 50 almost all pigmented melanophores have disappeared. Most interestingly, those embryos fail entirely to make pigmented iridophores. The combined reduction/absence of both pigmented iridophores and melanophores renders these embryos virtually transparent, permitting one to easily observe both the developing internal organs and nervous system; accordingly, we named this mutant no privacy (nop). We identified the causative genetic lesion as occurring in the Xenopus homolog of the human Hermansky-Pudlak Syndrome 6 (HPS6) gene, combining several approaches that utilized conventional gene mapping and classical and modern genetic tools available in Xenopus (gynogenesis, BAC transgenesis and TALEN-mediated mutagenesis). The nop allele contains a 10-base deletion that results in truncation of the Hps6 protein. In humans, HPS6 is one of the genes responsible for the congenital disease HPS, pathological symptoms of which include oculocutaneous albinism caused by defects in lysosome-related organelles required for pigment formation. Markers for melanin-producing neural crest cells show that the cells that would give rise to melanocytes are present in nop, though unpigmented. Abnormalities develop at tadpole stages in the pigmented retina when overall pigmentation becomes reduced and large multi-melanosomes are first formed. Ear development is also affected in nop embryos when both zygotic and maternal hsp6 is mutated: otoliths are often reduced or abnormal in morphology, as seen in some mouse HPS mutations, but to our knowledge not described in the BLOC-2 subset of HPS mutations nor described in non-mammalian systems previously. The transparency of the nop line suggests that these animals will aid studies of early organogenesis during tadpole stages. In addition, because of advantages of the Xenopus system for assessing gene expression, cell biological mechanisms, and the ontogeny of melanosome and otolith formation, this should be a highly useful model for studying the molecular mechanisms underlying the acquisition of the HPS phenotype and the underlying biology of lysosome-related organelle function.
[Mh] MeSH terms primary: Disease Models, Animal
Hermanski-Pudlak Syndrome
Mutation
Xenopus Proteins/genetics
Xenopus/genetics
[Mh] MeSH terms secundary: Albinism/genetics
Animals
Chromosomes, Artificial, Bacterial
Ear, Inner/abnormalities
Female
Humans
Larva/metabolism
Melanins/biosynthesis
Melanosomes/physiology
Mutagenesis, Site-Directed
Organogenesis
Otolithic Membrane/abnormalities
Phenotype
Pigmentation/genetics
Sequence Deletion
Xenopus/embryology
Xenopus Proteins/deficiency
Xenopus Proteins/physiology
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Name of substance:0 (Melanins); 0 (Xenopus Proteins); 0 (hps6 protein, Xenopus)
[Em] Entry month:1709
[Cu] Class update date: 171110
[Lr] Last revision date:171110
[Js] Journal subset:IM
[Da] Date of entry for processing:160907
[St] Status:MEDLINE

  7 / 324 MEDLINE  
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[PMID]: 27358286
[Au] Autor:Christensen S; Wagner L; Coleman MM; Appell D
[Ad] Address:1 Department of Nursing, Central Connecticut State University, New Britain, CT, USA.
[Ti] Title:The lived experience of having a rare medical disorder: Hermansky-Pudlak syndrome.
[So] Source:Chronic Illn;13(1):62-72, 2017 Mar.
[Is] ISSN:1745-9206
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Hermansky-Pudlak Syndrome is a rare form of albinism, affecting approximately one in 500,000 to one in 1,000,000 non-Hispanic individuals. The syndrome is more commonly found in Hispanics, where one in 18,00 individuals in Northwestern Puerto Rico are impacted. Because of the rarity of this chronic condition, patients often face challenges in their ability to cope with the diagnosis. A phenomenological study was conducted to explore the experience of individuals with this rare genetic disease. A purposive sample of adults between the ages of 20 and 49 diagnosed with Hermansky-Pudlak Syndrome was interviewed (N = 23). The majority (83%) were female. Data analysis resulted in the emergence of themes related to long road to diagnosis, learning to move forward, burden of being the expert, and survival through belonging to the HPS community.
[Mh] MeSH terms primary: Hermanski-Pudlak Syndrome/psychology
Quality of Life/psychology
Rare Diseases/psychology
[Mh] MeSH terms secundary: Adult
Female
Hermanski-Pudlak Syndrome/epidemiology
Humans
Male
Middle Aged
Puerto Rico/epidemiology
Young Adult
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1711
[Cu] Class update date: 171113
[Lr] Last revision date:171113
[Js] Journal subset:IM
[Da] Date of entry for processing:160701
[St] Status:MEDLINE
[do] DOI:10.1177/1742395316655854

  8 / 324 MEDLINE  
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[PMID]: 27856532
[Au] Autor:Van Avermaete F; Muys J; Jacquemyn Y
[Ad] Address:Universiteit Antwerpen Faculteit geneeskunde en gezondheidswetenschappen, Wilrijk, Belgium.
[Ti] Title:Management of Hermansky-Pudlak syndrome in pregnancy and review of literature.
[So] Source:BMJ Case Rep;2016, 2016 Nov 17.
[Is] ISSN:1757-790X
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:We report on the obstetric outcome of a woman aged 27 years with Hermansky-Pudlak syndrome (HPS). She underwent a caesarean section after failed induction of labour. Platelet transfusion was administered in a set schedule for 36 hours, starting 2 hours before delivery. The child had good Apgar scores and there were no significant problems of prolonged bleeding during the procedure. 72 hours postpartum, a haematoma developed at the site of the wound, subsequently complicated by a secondary infection for which she received antibiotics. Wound care was provided in an outpatient setting during 2 weeks, in which the infection stabilised and responded to the treatment. Mother and child could leave the hospital after 6 days.
[Mh] MeSH terms primary: Apgar Score
Cesarean Section
Disease Management
Hermanski-Pudlak Syndrome/complications
Platelet Transfusion
Pregnancy Complications/therapy
Wound Healing
[Mh] MeSH terms secundary: Adult
Anti-Bacterial Agents/therapeutic use
Female
Hematoma
Hermanski-Pudlak Syndrome/therapy
Humans
Infant, Newborn
Infection/complications
Infection/drug therapy
Labor, Induced
Postpartum Period
Pregnancy
Pregnancy Complications, Hematologic/prevention & control
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Nm] Name of substance:0 (Anti-Bacterial Agents)
[Em] Entry month:1703
[Cu] Class update date: 170317
[Lr] Last revision date:170317
[Js] Journal subset:IM
[Da] Date of entry for processing:161119
[St] Status:MEDLINE

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[PMID]: 27531610
[Au] Autor:Hao ZH; Li W
[Ti] Title:Muted protein is involved in the targeting of CD63 to large dense-core vesicles of chromaffin cells.
[So] Source:Yi Chuan;38(8):718-23, 2016 08.
[Is] ISSN:0253-9772
[Cp] Country of publication:China
[La] Language:eng
[Ab] Abstract:Large dense-core vesicles (LDCVs) are characterized as a class of lysosome-related organelles (LROs), which undergo regulated release and play important roles in development, metabolism and homeostasis. The Muted protein is a subunit of the biogenesis of lysosome-related organelles complex-1 (BLOC-1), which functions in the biogenesis of lysosomes and LROs. CD63 is a membrane component of lysosomes and LROs. Whether and how CD63 is sorted into LDCVs is largely unknown. In this study, we aim to identify the localization of CD63 in chromaffin cells by colocalization, living cell imaging and cell fractionation. We found that a proportion of CD63-YFP colocalized with NPY-dsRed labeled LDCVs. By sucrose density gradient fractionation, a proportion of CD63 was found to be highly enriched in LDCVs fractions. The Muted mutant mouse is a model of Hermansky-Pudlak syndrome (HPS). We also found that the level of CD63 was significantly decreased in Muted-deficient adrenal glands, suggesting that the Muted protein is important for the steady-state level of CD63. Our results suggest that CD63 is a membrane component of LDCVs and the stability of CD63 is dependent on the Muted protein, which provides a clue to the pathogenesis of LRO defects in HPS.
[Mh] MeSH terms primary: Chromaffin Cells/metabolism
Tetraspanin 30/metabolism
[Mh] MeSH terms secundary: Animals
Hermanski-Pudlak Syndrome/metabolism
Lysosomes/metabolism
Mice
Mutation/genetics
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (Cd63 protein, mouse); 0 (Tetraspanin 30)
[Em] Entry month:1703
[Cu] Class update date: 171116
[Lr] Last revision date:171116
[Js] Journal subset:IM
[Da] Date of entry for processing:160818
[St] Status:MEDLINE
[do] DOI:10.16288/j.yczz.16-156

  10 / 324 MEDLINE  
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[PMID]: 27529121
[Au] Autor:Vicary GW; Vergne Y; Santiago-Cornier A; Young LR; Roman J
[Ad] Address:1 Division of Pulmonary, Critical Care and Sleep Disorders Medicine, Department of Medicine, and Department of Pharmacology and Toxicology, University of Louisville School of Medicine, Louisville, Kentucky.
[Ti] Title:Pulmonary Fibrosis in Hermansky-Pudlak Syndrome.
[So] Source:Ann Am Thorac Soc;13(10):1839-1846, 2016 Oct.
[Is] ISSN:2325-6621
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract: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.
[Mh] MeSH terms primary: Hermanski-Pudlak Syndrome/complications
Hermanski-Pudlak Syndrome/ethnology
Pulmonary Fibrosis/therapy
[Mh] MeSH terms secundary: Animals
Biomarkers
Disease Progression
Hispanic Americans
Humans
Indoles/therapeutic use
Lung Transplantation
Membrane Proteins/genetics
Mice
Mutation
Puerto Rico/ethnology
Pyridones/therapeutic use
Randomized Controlled Trials as Topic
Tomography, X-Ray Computed
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Nm] Name of substance:0 (Biomarkers); 0 (HPS1 protein, human); 0 (Indoles); 0 (Membrane Proteins); 0 (Pyridones); D7NLD2JX7U (pirfenidone); G6HRD2P839 (nintedanib)
[Em] Entry month:1710
[Cu] Class update date: 171030
[Lr] Last revision date:171030
[Js] Journal subset:IM
[Da] Date of entry for processing:160817
[St] Status:MEDLINE


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