A case of the perinatal form hypophosphatasia caused by a novel large duplication of the ALPL gene and report of one year follow-up with enzyme replacement therapy

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dc.authoridBülent Hacıhamdioğlu / 0000-0001-7070-6429en_US
dc.authorscopusidBülent Hacıhamdioğlu / 22134579900
dc.authorwosidBülent Hacıhamdioğlu / GBK-6773-2022
dc.contributor.authorHacıhamdioğlu, Bülent
dc.contributor.authorÖzgürhan, Gamze
dc.contributor.authorPereira, Catarina
dc.contributor.authorTepeli, Emre
dc.contributor.authorAcar, Gülşen
dc.contributor.authorCömert, Serdar
dc.date.accessioned2020-08-30T20:06:36Z
dc.date.available2020-08-30T20:06:36Z
dc.date.issued2019
dc.departmentİstinye Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümüen_US
dc.description.abstractHypophosphatasia (HPP) is a rare disease caused by mutations in the ALPL gene encoding tissue-non-specific isoenzyme of alkaline phosphatase (TNSALP). Duplications of the ALPL gene account for fewer than 1 % of the mutations causing HPP. It has been shown that asfotase alfa enzyme replacement treatment (ERT) mineralizes the skeleton and improves respiratory function and survival in severe forms of HPP. Our patient was a newborn infant evaluated for respiratory failure and generalized hypotonia after birth. Diagnosis of HPP was based on low-serum ALP activity, high concentrations of substrates of the TNSALP and radiologic findings. On day 21 after birth, ERT using asfotase alfa (2 mg/kg three times per week, subcutaneous injection) was started. His respiratory support was gradually reduced and skeletal mineralization improved during treatment. We were able to discharge the patient when he was seven months old. No mutation was detected in the ALPL gene by all exon sequencing, and additional analysis was done by quantitative polymerase chain reaction (qPCR). As a result, a novel homozygote duplication encompassing exons 2 to 6 was detected. Early diagnosis and rapid intervention with ERT is life-saving in the severe form of HPP. qPCR can detect duplications if a mutation cannot be detected by sequence analysis in these patients.en_US
dc.identifier.citationHacıhamdioğlu, B., Özgürhan, G., Pereira, C., Tepeli, E., Acar, G., & Cömert, S. (2019). A Case of the Perinatal Form Hypophosphatasia Caused by a Novel Large Duplication of the ALPL Gene and Report of One Year Follow-up with Enzyme Replacement Therapy. Journal of Clinical Research in Pediatric Endocrinology, 11(3), 306.en_US
dc.identifier.doi10.4274/jcrpe.galenos.2018.2018.0217en_US
dc.identifier.endpage310en_US
dc.identifier.issn1308-5727en_US
dc.identifier.issn1308-5735en_US
dc.identifier.issue3en_US
dc.identifier.pmid30468149en_US
dc.identifier.scopus2-s2.0-85071741052en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage306en_US
dc.identifier.trdizinid334435en_US
dc.identifier.urihttps://doi.org/10.4274/jcrpe.galenos.2018.2018.0217
dc.identifier.urihttps://hdl.handle.net/20.500.12713/570
dc.identifier.volume11en_US
dc.identifier.wosWOS:000484679800013en_US
dc.identifier.wosqualityQ2en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.indekslendigikaynakTR-Dizinen_US
dc.institutionauthorHacıhamdioğlu, Bülenten_US
dc.language.isoenen_US
dc.publisherGalenos Yayinciliken_US
dc.relation.ispartofJournal of Clinical Research In Pediatric Endocrinologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectHypophosphatasiaen_US
dc.subjectPerinatal Formen_US
dc.subjectALPL Geneen_US
dc.subjectDuplicationen_US
dc.subjectEnzyme Replacement Therapyen_US
dc.titleA case of the perinatal form hypophosphatasia caused by a novel large duplication of the ALPL gene and report of one year follow-up with enzyme replacement therapyen_US
dc.typeArticleen_US

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