{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,11,23]],"date-time":"2023-11-23T08:57:44Z","timestamp":1700729864897},"reference-count":21,"publisher":"Akademiai Kiado Zrt.","issue":"2","license":[{"start":{"date-parts":[[2021,1,10]],"date-time":"2021-01-10T00:00:00Z","timestamp":1610236800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["akjournals.com"],"crossmark-restriction":true},"short-container-title":["OH"],"published-print":{"date-parts":[[2021,1,10]]},"abstract":"<jats:p><jats:bold>\u00d6sszefoglal\u00f3.<\/jats:bold> A Niemann\u2013Pick-betegs\u00e9g autoszom\u00e1lis recessz\u00edven\n                    \u00f6r\u00f6kl\u0151d\u0151 lizoszom\u00e1lis t\u00e1rol\u00e1si betegs\u00e9g, amelynek h\u00e1tter\u00e9ben a savi\n                    szfingomielin\u00e1z enzim hi\u00e1nya vagy cs\u00f6kkent aktivit\u00e1sa (A-, A\/B- \u00e9s B-t\u00edpus),\n                    illetve a Niemann\u2013Pick C intracellul\u00e1ris koleszterintranszporter feh\u00e9rje\n                    deficienti\u00e1ja (C- \u00e9s D-t\u00edpus) \u00e1llhat. A defektus k\u00f6vetkezt\u00e9ben szfingomielin \u00e9s\n                    koleszterin halmoz\u00f3dik fel a sejtek lizosz\u00f3m\u00e1iban. A betegs\u00e9g leggyakoribb\n                    prezent\u00e1ci\u00f3s t\u00fcnete a hepatosplenomegalia miatt el\u0151domborod\u00f3 nagy has. A\n                    legs\u00falyosabb t\u00fcnetek a progressz\u00edv neurodegener\u00e1ci\u00f3 k\u00f6vetkezm\u00e9nyei. A diagn\u00f3zis\n                    meger\u0151s\u00edt\u00e9s\u00e9ben elengedhetetlen a genetikai vizsg\u00e1lat, amely az \u00e9rintett\n                    csal\u00e1dokban lehet\u0151s\u00e9get teremt praenatalis genetikai vizsg\u00e1latok v\u00e9gz\u00e9s\u00e9re is. A\n                    betegs\u00e9g idejekor\u00e1n t\u00f6rt\u00e9n\u0151 felismer\u00e9se rendk\u00edv\u00fcl fontos, hiszen napjainkban a\n                    ter\u00e1pi\u00e1s lehet\u0151s\u00e9gek egyre b\u0151v\u00fclnek. A szubsztr\u00e1tredukci\u00f3s, illetve enzimp\u00f3tl\u00f3\n                    kezel\u00e9seknek k\u00f6sz\u00f6nhet\u0151en a hepatosplenomegalia m\u00e9rs\u00e9kelhet\u0151, \u00e9s lass\u00edthat\u00f3 vagy\n                    visszaford\u00edthat\u00f3 a neurol\u00f3giai t\u00fcnetek progresszi\u00f3ja. A szerz\u0151 k\u00e9t\n                    esetismertet\u00e9sen kereszt\u00fcl mutatja be a Niemann\u2013Pick-betegs\u00e9g f\u0151bb t\u00edpusait,\n                    klinikum\u00e1t, molekul\u00e1ris genetikai h\u00e1tter\u00e9t, \u00e9s elemzi a diagnosztikus, illetve\n                    ter\u00e1pi\u00e1s lehet\u0151s\u00e9geket. Orv Hetil. 2021; 162(2): 74\u201380.<\/jats:p>\n                <jats:p><jats:bold>Summary.<\/jats:bold> The Niemann\u2013Pick disease is an autosomal recessive\n                    lysosomal storage disorder caused by the lack or decreased activity of the acid\n                    sphingomyelinase enzyme or a deficiency of the Niemann\u2013Pick C intracellular\n                    cholesterol transporter protein. As a result of the defect, sphingomyelin and\n                    cholesterol accumulate in the lysosomes of the cells. The most common\n                    presentation symptom of the disease is abdominal protrusion due to\n                    hepatosplenomegaly. The most severe symptoms are the consequences of progressive\n                    neurodegeneration. Genetic testing is essential to confirm the diagnosis, which\n                    also allows for prenatal genetic testing in the affected families. Early\n                    detection of the disease is extremely important as therapeutic options are\n                    expanding. Thanks to substrate reduction and enzyme replacement therapies,\n                    hepatosplenomegaly can be reduced, and progression of neurological symptoms can\n                    be reversed. Through two case reports, the author presents the main types,\n                    clinical manifestations, and molecular genetic background of this rare metabolic\n                    disorder. The author describes the diagnostic and therapeutic approaches to\n                    Niemann\u2013Pick disease. Orv Hetil. 2021; 162(2): 74\u201380.<\/jats:p>","DOI":"10.1556\/650.2021.31950","type":"journal-article","created":{"date-parts":[[2021,3,30]],"date-time":"2021-03-30T12:09:37Z","timestamp":1617106177000},"page":"74-80","update-policy":"http:\/\/dx.doi.org\/10.1556\/policypage.crossmark.crossref.1","source":"Crossref","is-referenced-by-count":1,"title":["Niemann\u2013Pick-betegs\u00e9g: saj\u00e1t megfigyel\u00e9sek \u00e9s \u00faj ter\u00e1pi\u00e1s lehet\u0151s\u00e9gek"],"prefix":"10.1556","volume":"162","author":[{"given":"Melinda","family":"Erd\u0151s","sequence":"first","affiliation":[{"name":"1 St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, 1230 York Avenue, Box 163, New York, NY 10065, USA"},{"name":"2 Debreceni Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, Infektol\u00f3giai \u00e9s Gyermekimmunol\u00f3giai Tansz\u00e9k, Debrecen"},{"name":"3 Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, B\u0151r-, Nemik\u00f3rtani \u00e9s B\u0151ronkol\u00f3giai Klinika, Primer Immundeficientia Klinikai R\u00e9szleg \u00e9s Laborat\u00f3rium, Budapest"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"425","reference":[{"key":"ref0","doi-asserted-by":"publisher","unstructured":"1 Wasserstein M, Dionisi-Vici C, Giugliani R, et al. 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