Hermansky–Pudlak syndrome

Osorio Aira, Sonia; Roig Figueroa, Vicente; López Pedreira, M. Rosa

doi:10.1016/j.medcle.2020.04.063

array:24 ["pii" => "S2387020621003375" "issn" => "23870206" "doi" => "10.1016/j.medcle.2020.04.063" "estado" => "S300" "fechaPublicacion" => "2021-08-13" "aid" => "5305" "copyright" => "Elsevier España, S.L.U.. All rights reserved" "copyrightAnyo" => "2020" "documento" => "simple-article" "crossmark" => 1 "subdocumento" => "cor" "cita" => "Med Clin. 2021;157:149-50" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:1 [ "total" => 0 ] "Traduccion" => array:1 [ "es" => array:19 [ "pii" => "S0025775320304723" "issn" => "00257753" "doi" => "10.1016/j.medcli.2020.04.056" "estado" => "S300" "fechaPublicacion" => "2021-08-13" "aid" => "5305" "copyright" => "Elsevier España, S.L.U." "documento" => "simple-article" "crossmark" => 1 "subdocumento" => "cor" "cita" => "Med Clin. 2021;157:149-50" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:1 [ "total" => 0 ] "es" => array:10 [ "idiomaDefecto" => true "cabecera" => "Carta al Editor" "titulo" => "Síndrome de Hermansky-Pudlak" "tienePdf" => "es" "tieneTextoCompleto" => "es" "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "149" "paginaFinal" => "150" ] ] "titulosAlternativos" => array:1 [ "en" => array:1 [ "titulo" => "Hermansky-Pudlak syndrome" ] ] "contieneTextoCompleto" => array:1 [ "es" => true ] "contienePdf" => array:1 [ "es" => true ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "Sonia Osorio Aira, Vicente Roig Figueroa, M.a Rosa López Pedreira" "autores" => array:3 [ 0 => array:2 [ "nombre" => "Sonia" "apellidos" => "Osorio Aira" ] 1 => array:2 [ "nombre" => "Vicente" "apellidos" => "Roig Figueroa" ] 2 => array:2 [ "nombre" => "M.a Rosa" "apellidos" => "López Pedreira" ] ] ] ] ] "idiomaDefecto" => "es" "Traduccion" => array:1 [ "en" => array:9 [ "pii" => "S2387020621003375" "doi" => "10.1016/j.medcle.2020.04.063" "estado" => "S300" "subdocumento" => "" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:1 [ "total" => 0 ] "idiomaDefecto" => "en" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2387020621003375?idApp=UINPBA00004N" ] ] "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0025775320304723?idApp=UINPBA00004N" "url" => "/00257753/0000015700000003/v3_202112201214/S0025775320304723/v3_202112201214/es/main.assets" ] ] "itemSiguiente" => array:19 [ "pii" => "S2387020621003405" "issn" => "23870206" "doi" => "10.1016/j.medcle.2020.04.064" "estado" => "S300" "fechaPublicacion" => "2021-08-13" "aid" => "5303" "copyright" => "Elsevier España, S.L.U." "documento" => "simple-article" "crossmark" => 1 "subdocumento" => "cor" "cita" => "Med Clin. 2021;157:150-1" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:1 [ "total" => 0 ] "en" => array:11 [ "idiomaDefecto" => true "cabecera" => "Letter to the Editor" "titulo" => "Acute upper limb bilateral ischaemia and transverse myelitis in a patient with giant cell arteritis" "tienePdf" => "en" "tieneTextoCompleto" => "en" "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "150" "paginaFinal" => "151" ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Isquemia arterial aguda bilateral de extremidades superiores y mielitis transversa en un paciente con arteritis de células gigantes" ] ] "contieneTextoCompleto" => array:1 [ "en" => true ] "contienePdf" => array:1 [ "en" => true ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:8 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 2252 "Ancho" => 1500 "Tamanyo" => 887911 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0005" "detalle" => "Figure " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "Radial artery section. A) Haematoxylin-eosin stain (x100) with intimal hyperplasia (arrow) and lymphocytic infiltrate predominantly in the adventitia and (x400) clustered macrophages (*). B) CD68 immunohistochemical staining with a large number of macrophages (*) with a tendency to cluster and elastic fibre staining with internal elastic lamina rupture (#)." ] ] ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "Elena Yeregui Etxeberia, Richard Alberto Rojas Sánchez, Miguel Lopez Dupla" "autores" => array:3 [ 0 => array:2 [ "nombre" => "Elena" "apellidos" => "Yeregui Etxeberia" ] 1 => array:2 [ "nombre" => "Richard Alberto" "apellidos" => "Rojas Sánchez" ] 2 => array:2 [ "nombre" => "Miguel" "apellidos" => "Lopez Dupla" ] ] ] ] ] "idiomaDefecto" => "en" "Traduccion" => array:1 [ "es" => array:9 [ "pii" => "S002577532030470X" "doi" => "10.1016/j.medcli.2020.04.054" "estado" => "S300" "subdocumento" => "" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:1 [ "total" => 0 ] "idiomaDefecto" => "es" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S002577532030470X?idApp=UINPBA00004N" ] ] "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2387020621003405?idApp=UINPBA00004N" "url" => "/23870206/0000015700000003/v3_202201060717/S2387020621003405/v3_202201060717/en/main.assets" ] "itemAnterior" => array:19 [ "pii" => "S2387020621003351" "issn" => "23870206" "doi" => "10.1016/j.medcle.2020.04.061" "estado" => "S300" "fechaPublicacion" => "2021-08-13" "aid" => "5193" "copyright" => "Elsevier España, S.L.U." "documento" => "simple-article" "crossmark" => 1 "subdocumento" => "cor" "cita" => "Med Clin. 2021;157:148-9" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:1 [ "total" => 0 ] "en" => array:11 [ "idiomaDefecto" => true "cabecera" => "Letter to the Editor" "titulo" => "Otic tuberculosis. Case report" "tienePdf" => "en" "tieneTextoCompleto" => "en" "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "148" "paginaFinal" => "149" ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Tuberculosis ótica. Descripción de un caso" ] ] "contieneTextoCompleto" => array:1 [ "en" => true ] "contienePdf" => array:1 [ "en" => true ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:8 [ "identificador" => "fig0005" "etiqueta" => "Fig. 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 1422 "Ancho" => 1500 "Tamanyo" => 125098 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0005" "detalle" => "Fig. " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "Granulomas on the tympanic membrane." ] ] ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "Roman Carlos, Lorena Porras, Rafael Sánchez Sánchez" "autores" => array:3 [ 0 => array:2 [ "nombre" => "Roman" "apellidos" => "Carlos" ] 1 => array:2 [ "nombre" => "Lorena" "apellidos" => "Porras" ] 2 => array:2 [ "nombre" => "Rafael" "apellidos" => "Sánchez Sánchez" ] ] ] ] ] "idiomaDefecto" => "en" "Traduccion" => array:1 [ "es" => array:9 [ "pii" => "S0025775320302712" "doi" => "10.1016/j.medcli.2020.04.017" "estado" => "S300" "subdocumento" => "" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:1 [ "total" => 0 ] "idiomaDefecto" => "es" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0025775320302712?idApp=UINPBA00004N" ] ] "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2387020621003351?idApp=UINPBA00004N" "url" => "/23870206/0000015700000003/v3_202201060717/S2387020621003351/v3_202201060717/en/main.assets" ] "en" => array:13 [ "idiomaDefecto" => true "cabecera" => "Letter to the Editor" "titulo" => "Hermansky–Pudlak syndrome" "tieneTextoCompleto" => true "saludo" => "Dear Editor:" "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "149" "paginaFinal" => "150" ] ] "autores" => array:1 [ 0 => array:4 [ "autoresLista" => "Sonia Osorio Aira, Vicente Roig Figueroa, M. Rosa López Pedreira" "autores" => array:3 [ 0 => array:4 [ "nombre" => "Sonia" "apellidos" => "Osorio Aira" "email" => array:1 [ 0 => "soniaosorio004@gmail.com" ] "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "a" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "*" "identificador" => "cor0005" ] ] ] 1 => array:3 [ "nombre" => "Vicente" "apellidos" => "Roig Figueroa" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "b" "identificador" => "aff0010" ] ] ] 2 => array:3 [ "nombre" => "M. Rosa" "apellidos" => "López Pedreira" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "a" "identificador" => "aff0005" ] ] ] ] "afiliaciones" => array:2 [ 0 => array:3 [ "entidad" => "Servicio de Radiodiagnóstico, Hospital Clínico Universitario, Valladolid, Spain" "etiqueta" => "a" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Servicio de Neumología, Hospital Clínico Universitario, Valladolid, Spain" "etiqueta" => "b" "identificador" => "aff0010" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Síndrome de Hermansky-Pudlak" ] ] "textoCompleto" => "The Hermansky–Pudlak syndrome is an autosomal recessive genetic disorder clinically characterized by a triad of pulmonary fibrosis, hemorrhagic diathesis, and albinism. It is an exceptionally rare condition, with very few cases described in the scientific literature, most being endemic to Puerto Rico. From a clinical standpoint, its pulmonary involvement exhibits a slow but disabling course in which case clinical suspicion plays a very significant role, as lung transplantation is the only curative treatment. Therefore, we believe that it would be of great clinical interest to present a case diagnosed in our country and to explain the main clinical and radiological features that led to its diagnosis.We hereby present the case of a 47-year-old male university professor, with light skin and eyes, no known drug allergies or toxic habits, and whose only remarkable history was severe platelet dysfunction associated with frequent episodes of bleeding.He initially presented with symptoms of rapidly progressive dyspnea until becoming of minimal efforts, accompanied by fits of non-productive cough, chest oppression, and generalized malaise. A pulmonary auscultation revealed remarkable bibasal crackles, and respiratory function tests showed a severe restrictive pattern with a significant carbon monoxide (CO) diffusion capacity alteration (forced vital capacity [FVC] 56.1%, forced expiratory volume in 1 s [FEV1] 57.3%, FEV1/FVC 77.9%, and diffusing capacity of the lung [DLCO] 50%).A posteroanterior chest X-ray was performed, observing a diffuse interstitial pattern with bilateral interstitial opacities without an evident basal predominance. A thoracic computerized tomography (CT) scan was subsequently performed, with the axial sections obtained with a lung window confirming the existence of the described interstitial pattern without a clear apicobasal predominance, dispersed reticular infiltrates, as well as traction bronchiectasis and bronchiolectasis. No evident honeycomb pattern was identified. Thus, the radiological findings were compatible with a fibrosing interstitial pattern not compatible with a usual interstitial pneumonia (UIP) pattern.The patient also underwent a bronchoscopy with a bronchoalveolar lavage, with the subsequent microbiology and cytology tests performed on the collected samples yielding a negative result for malignancy. A transbronchial lung biopsy was also performed, observing a usual interstitial pneumonia pattern with eosinophils present within the alveolar lumens, findings of organizing pneumonia and desquamative interstitial pneumonia, as well as thickened septa secondary to the associated inflammatory process. The immunohistochemistry study for CD1 revealed an absence of Langerhans cells. Considering these findings, he was prescribed pharmacological treatment with methotrexate, folic acid, and formoterol/budesonide.The patient’s condition evolved poorly, and he had to be admitted on several occasions due to presenting with recurring episodes of pneumothorax and an increase in his usual dyspnea. A follow-up posteroanterior chest X-ray performed in November 2017 revealed a clear worsening in his interstitial lung pattern, with more remarkable areas of reticulation in the middle and upper lung fields, together with an associated loss of lung volume. In addition, the axial sections of a follow-up thoracic CT scan revealed an extensive, bilateral, diffuse, fibrosing interstitial pattern, with a small left apical area of pneumothorax, reticular opacities, areas of peribronchovascular thickening, and traction bronchiectasis/bronchiolectasis.Given the patient’s clinical condition and his poor evolution, we decided to perform genetic tests, detecting a homozygous mutation in gene HPS4, thus confirming the diagnosis of Hermansky–Pudlak syndrome.The patient was subsequently included in the preferential lung transplant waiting list of Hospital Universitario 12 de Octubre of Madrid (Spain), but passed away in January 2018.The Hermansky–Pudlak syndrome is an autosomal recessive genetic disorder with multisystemic involvement in which pulmonary fibrosis, hemorrhagic diathesis, and albinism are the most common presenting features.<a class="elsevierStyleCrossRef" href="#bib0005">1</a>A presumptive diagnosis of this syndrome is hard to reach owing to its scarce prevalence, particularly in our setting. However, it can be found in young patients without toxic habits or an associated family history, with rapidly progressive dyspnea, and an atypical fibrosing interstitial lung disease. It is important to assess the relationship between this condition and certain clinical manifestations such as oculocutaneous albinism, platelet dysfunction, neutropenia, or granulomatous colitis.<a class="elsevierStyleCrossRef" href="#bib0010">2</a>The final diagnosis must be reached following genetic testing confirming a homozygous mutation in any of the ten genes associated with this syndrome. The only curative treatment for fibrosis is lung transplantation.<a class="elsevierStyleCrossRef" href="#bib0015">3</a>" "pdfFichero" => "main.pdf" "tienePdf" => true "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "Please cite this article as: Osorio Aira S, Roig Figueroa V, López Pedreira M. Síndrome de Hermansky-Pudlak. Med Clin (Barc). 2021;157:52–53." ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:3 [ 0 => array:3 [ "identificador" => "bib0005" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Hermansky–Pudlak syndrome: radiography and CT of the chest compared with pulmonary function tests and genetic studies" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:6 [ 0 => "N.A. Avila" 1 => "M. Brantly" 2 => "A. Premkumar" 3 => "M. Huizing" 4 => "A. Dwyer" 5 => "W.A. Gahl" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.2214/ajr.179.4.1790887" "Revista" => array:5 [ "tituloSerie" => "Am J Roentgenol." "fecha" => "2002" "volumen" => "179" "paginaInicial" => "887" "paginaFinal" => "892" ] ] ] ] ] ] 1 => array:3 [ "identificador" => "bib0010" "etiqueta" => "2" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Fibrosis pulmonar familiar en 2 hermanas mexicanas con síndrome de Hermansky–Pudlak" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:6 [ 0 => "A.C. Zamora" 1 => "D. Alonso-Martínez" 2 => "L. Barrera" 3 => "F. Mendoza" 4 => "M. Gaxiola" 5 => "G. Carrillo" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1016/j.arbres.2009.01.002" "Revista" => array:6 [ "tituloSerie" => "Arch Bronconeumol." "fecha" => "2009" "volumen" => "45" "paginaInicial" => "408" "paginaFinal" => "410" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/19410348" "web" => "Medline" ] ] ] ] ] ] ] ] 2 => array:3 [ "identificador" => "bib0015" "etiqueta" => "3" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Hermansky–Pudlak syndrome: variable clinical expression in two cases" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:5 [ 0 => "R.P. Aguilera" 1 => "N.L. Santiago" 2 => "A.M. Orozco" 3 => "D.C. Daza" 4 => "J.L. Salazar-Bailón" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:5 [ "tituloSerie" => "Bol Med Hosp Infant Mex." "fecha" => "2012" "volumen" => "69" "paginaInicial" => "300" "paginaFinal" => "306" ] ] ] ] ] ] ] ] ] ] ] "idiomaDefecto" => "en" "url" => "/23870206/0000015700000003/v3_202201060717/S2387020621003375/v3_202201060717/en/main.assets" "Apartado" => array:4 [ "identificador" => "43309" "tipo" => "SECCION" "en" => array:2 [ "titulo" => "Letters to the Editor" "idiomaDefecto" => true ] "idiomaDefecto" => "en" ] "PDF" => "https://static.elsevier.es/multimedia/23870206/0000015700000003/v3_202201060717/S2387020621003375/v3_202201060717/en/main.pdf?idApp=UINPBA00004N&text.app=https://www.elsevier.es/" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2387020621003375?idApp=UINPBA00004N"]

ISSN: 2387-0206

Launched in 1943, Medicina Clínica is a fortnightly journal aimed at the promotion of clinical research and practice among internal medicine and other specialists. The key characteristics of Medicina Clínica are the scientific and methodological rigor of its manuscripts, the topicality of its contents, and, especially, its practical focus with highly useful information for clinical practice. Medicina Clínica is predominantly interested in publishing original research manuscripts, which are rigorously selected according to their quality, originality, and interest, and also in continued medical education-oriented manuscripts, which are commissioned by the journal to relevant authors (Editorials, Reviews, and Diagnosis and Treatment). These manuscripts contain updated topics with a major clinical or conceptual relevance in modern medicine. The journal adheres to the standards of academic research publications in all aspects including peer-review and ethical principles. Medicina Clínica is included in the General and Internal Medicine category of Thomson Reuters.

See more Open Access Option

Indexed in:

Current Contents/Clinical Medicine, Journal Citation Reports, SCI-Expanded, Index Medicus/Medline, Excerpta Medica/EMBASE, IBECS, IME, MEDES, PASCAL, SCOPUS, SciVerse ScienceDirect

Subscribe:

Impact factor

The Impact Factor measures the average number of citations received in a particular year by papers published in the journal during the two preceding years.

© Clarivate Analytics, Journal Citation Reports 2022

Impact factor 2023

2.6

Citescore

CiteScore measures average citations received per document published.

Citescore 2023

3.1

SJR

SRJ is a prestige metric based on the idea that not all citations are the same. SJR uses a similar algorithm as the Google page rank; it provides a quantitative and qualitative measure of the journal's impact.

SJR 2023

0.371

SNIP

SNIP measures contextual citation impact by wighting citations based on the total number of citations in a subject field.

SNIP 2023

0.511

View more metrics

Journal Information

Previous article | Next article

Vol. 157. Issue 3.

Pages 149-150 (August 2021)

Lee este artículo en Español

Export reference

Download PDF

Article

These are the options to access the full texts of the publication Medicina Clínica (English Edition)

Subscriber

If you already have your login data, please click here .

If you have forgotten your password you can you can recover it by clicking here and selecting the option “I have forgotten my password”

Subscribe to

Medicina Clínica (English Edition)

More information

Purchase

Purchase article

Purchasing article the PDF version will be downloaded

Price 19.34 €

Purchase now

Contact

Phone for subscriptions and reporting of errors

From Monday to Friday from 9 a.m. to 6 p.m. (GMT + 1) except for the months of July and August which will be from 9 a.m. to 3 p.m.

Calls from Spain

932 415 960

Calls from outside Spain

+34 932 415 960

E-mail

atencionalcliente@elsevier.com

Publish in

Medicina Clínica

Tools

Free access articles

Early cortical atrophy in REM sleep behavior...

Med Clin. 2024;163:70-3

Disability degree assessment: A comprehensive approach...

Med Clin. 2024;163:e3-e7

Inappropriate hospitalization: Measurement...

Med Clin. 2024;163:91-7

Medicina Clínica (English Edition) follows the Recommendations for the Conduct, Reporting, Editing and Publication of Scholarly Work in Medical Journals

Indexed in:

Follow us:

Subscribe:

Article

Subscribe to our newsletter