Perinatal form hypophosphatasia caused by a novel large duplication of ALPL gene and two year follow-up under enzyme replacement therapy; a case report

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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.accessioned2020-08-30T20:06:34Z
dc.date.available2020-08-30T20:06:34Z
dc.date.issued2019
dc.departmentİstinye Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümüen_US
dc.description.abstractHypophosphatasia is a rare disease caused by mutations in the gene encoding tissuenonspecific isoenzyme of alkaline phosphatase. Duplications of the ALPL gene account for fewer than 1% of the mutations causing HPP. It has been shown that asfotase alfa treatment mineralizes the skeleton and improves respiratory function and survival in severe forms of hypophosphatasia. The newborn was evaluated for respiratory failure and generalized hypotonia after birth. Diagnosis of HPP was based on low-serum ALP activity, high levels of substrates of tissue-nonspecific isoenzyme of alkaline phosphatase and radiologic findings. On day 21 after birth, enzyme replacement therapy using asfotase alfa (2 mg/kg three times per week, subcutaneous injection) was started. We were able to discharge our patient when he was 7 months old. His respiratory support was gradually reduced and skeletal mineralization improved during treatment. No mutation was detected in the ALPL gene by all exon sequencing, and additional analysis was done by quantitative polymerase chain reaction. As a result, a novel homozygote duplication encompassing exons 2 to 6 was detected. Early diagnosis and rapid intervention with enzyme replacement therapy is life-saving in the severe form of hypophosphatasia. Quantitative polymerase chain reaction can detect duplications if a mutation cannot be detected by sequence analysis in patients with hypophosphatasia.en_US
dc.identifier.citationHacihamdioglu, B., Ozgurhan, G., Pereira, C., Tepeli, E., Acar, G., & Comert, S. (2019). Perinatal form hypophosphatasia caused by a novel large duplication of ALPL gene and two year follow-up under enzyme replacement therapy; a case report.en_US
dc.identifier.endpage383en_US
dc.identifier.issn1663-2818en_US
dc.identifier.issn1663-2826en_US
dc.identifier.startpage383en_US
dc.identifier.urihttps://hdl.handle.net/20.500.12713/561
dc.identifier.volume91en_US
dc.identifier.wosWOS:000485922404027en_US
dc.identifier.wosqualityQ2en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.institutionauthorHacıhamdioğlu, Bülenten_US
dc.language.isoenen_US
dc.publisherKargeren_US
dc.relation.ispartofHormone Research In Paediatricsen_US
dc.relation.publicationcategoryKonferans Öğesi - Uluslararası - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectHypophosphatasiaen_US
dc.subjectPerinatal Formen_US
dc.subjectALPL Geneen_US
dc.subjectDuplicationen_US
dc.subjectEnzyme Replacement Therapyen_US
dc.titlePerinatal form hypophosphatasia caused by a novel large duplication of ALPL gene and two year follow-up under enzyme replacement therapy; a case reporten_US
dc.typeConference Objecten_US

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