Asfotase alfa treatment in a 2-year-old girl with childhood hypophosphatasia

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dc.authoridGönül Çatlı / 0000-0002-0488-6377en_US
dc.authorscopusidGönül Çatlı / 35783928000
dc.authorwosidGönül Çatlı / AGX-8645-2022en_US
dc.contributor.authorÇatlı, Gönül
dc.contributor.authorEroğlu Filibeli, Berna
dc.contributor.authorÇelik, Handan
dc.contributor.authorEl, Özlem
dc.contributor.authorDündar, Bumin
dc.date.accessioned2022-07-18T11:45:09Z
dc.date.available2022-07-18T11:45:09Z
dc.date.issued2022en_US
dc.departmentİstinye Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümüen_US
dc.description.abstractChildhood hypophosphatasia (HPP) presents with bowing of the limbs, poor mobility, chronic pain, short stature, fractures, and motor impairment. Enzyme replacement therapy (ERT) provides improved pulmonary and physical function in life-threatening perinatal and infantile forms of HPP. However, treatment of those patients without life-threatening HPP is limited. This report describes the results of asfotase alfa (Strensiq®, Alexion Pharmaceuticals, Inc.) treatment in a 6-year-old girl with childhood HPP, who presented with premature loss of primary teeth, low mobility, and chronic pain in the legs. Sequence analysis of the TNSALP gene revealed three heterozygous variants; c.526G>A (reported previously), c.1051G>C (novel), c.787T>C (reported previously). After a four-year follow-up under ERT, a marked reduction in leg pain and restlessness was observed and physical therapy assessments showed remarkable improvements in motor function, pain score, and quality of life. The treatment decision in childhood HPP is not as clear as in infantile and perinatal forms and it is mostly based on the clinical and radiological condition of the patient. In patients with childhood HPP without severe skeletal involvement but accompanying motor retardation, ERT may improve quality of life, motor functions, and daily activities.en_US
dc.identifier.citationÇATLI G,FİLİBELİ B. E,ÇELİK H,EL Ö,DÜNDAR B (2022). Asfotase Alfa Treatment in a 2-year-old Girl with Childhood Hypophosphatasia. The Journal of Pediatric Research, 9(2), 192 - 196. Doi: 10.4274/jpr.galenos.2021.51333en_US
dc.identifier.doi10.4274/jpr.galenos.2021.51333en_US
dc.identifier.endpage196en_US
dc.identifier.issn2147-9445en_US
dc.identifier.issue2en_US
dc.identifier.startpage192en_US
dc.identifier.trdizinid519189en_US
dc.identifier.urihttp://doi.org/10.4274/jpr.galenos.2021.51333
dc.identifier.urihttps://hdl.handle.net/20.500.12713/3011
dc.identifier.volume92en_US
dc.indekslendigikaynakTR-Dizinen_US
dc.institutionauthorÇatlı, Gönül
dc.language.isoenen_US
dc.publisherTR- Dizinen_US
dc.relation.ispartofThe Journal of Pediatric Researchen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectChildhood Hypophosphatasiaen_US
dc.subjectAsfotase Alfaen_US
dc.subjectMotor Functionen_US
dc.titleAsfotase alfa treatment in a 2-year-old girl with childhood hypophosphatasiaen_US
dc.typeArticleen_US

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