Clinical and genetic findings of Turkish hypophosphatasia cases

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dc.contributor.buuauthorSağlam, Halil
dc.contributor.buuauthorErdöl, Şahin
dc.contributor.buuauthorDorum, Sevil
dc.contributor.departmentUludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı.tr_TR
dc.contributor.departmentUludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı.tr_TR
dc.contributor.orcid0000-0003-0710-5422tr_TR
dc.contributor.orcid0000-0003-4402-9609tr_TR
dc.contributor.researcheridC-7392-2019tr_TR
dc.contributor.scopusid35612700100tr_TR
dc.contributor.scopusid54419947800tr_TR
dc.contributor.scopusid41661166200tr_TR
dc.date.accessioned2023-01-19T05:58:03Z
dc.date.available2023-01-19T05:58:03Z
dc.date.issued2017-06-24
dc.description.abstractObjective: Hypophosphatasia (HPP) is a rare, commonly unrecognized hereditary mineralization defect with a dramatically poor prognosis in severe cases. This study is the first to examine the detailed clinical and laboratory characteristics of patients with HPP and healthy carriers in Turkey. Methods: The study data were obtained retrospectively from the files of 10 healthy carriers and of 16 cases with HPP (12 children and 4 adults) who were followed in our center from 2012 to 2016. Results: The annual incidence of perinatal lethal hypophosphatasia (PLH) was estimated to be approximately 1 case per 435,517 live births,, which is the first report from Turkey. The clinical courses of the cases differed depending on the type of HPP. All of the seven cases (58.3% of all cases) with perinatal lethal form of HPP died. A need for respiratory support (p = 0.001), a history of pyridoxine-dependent seizures (p = 0.001), a low chest circumference measurement (p = 0.017), younger age at diagnosis (p = 0.029), a small head circumference at the time of presentation (p = 0.042), a low arm span to height ratio (p = 0.048), and a low serum alkaline phosphatase (ALP) level (p = 0.042) seemed to be predicting factors for mortality. The mean height standard deviation score of the patients and those of the healthy carriers did not differ significantly (p = 0.173). Different mutations were detected in nine of 14 cases (64.2%) in whom an ALPL gene mutation analysis could be performed, and five of these cases (35.7%) had novel mutations. The most common mutations were c746G>T (five alleles), c346G>A (three alleles), and c.140C>T (three alleles). In addition, the most frequently observed genotype in Turkish HPP cases was autosomal-dominant c.346G>A (p.A116T) mutations which were detected in three cases in two different families. Conclusion: Because of the respiratory problems, especially the lung hypoplasia, the clinical course is poor in cases with the perinatal lethal form of HPP. Some minor abnormalities such as mild short stature and osteopenia could be observed in asymptomatic heterozygote carriers. Laboratory findings were normal in these cases.en_US
dc.identifier.citationSağlam, H. vd. (2017). ''Clinical and genetic findings of Turkish hypophosphatasia cases''. JCRPE Journal of Clinical Research in Pediatric Endocrinology, 9(3), 229-236.tr_TR
dc.identifier.endpage236tr_TR
dc.identifier.issn1308-5727
dc.identifier.issue3tr_TR
dc.identifier.pubmed28663156tr_TR
dc.identifier.scopus2-s2.0-85029042566tr_TR
dc.identifier.startpage229tr_TR
dc.identifier.urihttps://doi.org/10.4274/jcrpe.4549
dc.identifier.urihttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC5596804/
dc.identifier.uri1308-5735
dc.identifier.urihttp://hdl.handle.net/11452/30547
dc.identifier.volume9tr_TR
dc.identifier.wos000410406300007tr_TR
dc.indexed.pubmedPubMeden_US
dc.indexed.scopusScopusen_US
dc.indexed.wosSCIEen_US
dc.language.isoenen_US
dc.publisherGalenos Yayıncılıktr_TR
dc.relation.bap2016-19/13tr_TR
dc.relation.journalJCRPE Journal of Clinical Research in Pediatric Endocrinologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergitr_TR
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectEndocrinology & metabolismen_US
dc.subjectPediatricsen_US
dc.subjectHypophosphatasiaen_US
dc.subjectTurkish childrenen_US
dc.subjectAlkaline-phosphatase geneen_US
dc.subjectMutationsen_US
dc.subject.emtreeAlkaline phosphataseen_US
dc.subject.emtreeAdolescenten_US
dc.subject.emtreeAdulten_US
dc.subject.emtreeALPL geneen_US
dc.subject.emtreeArticleen_US
dc.subject.emtreeAssisted ventilationen_US
dc.subject.emtreeAutosomal recessive disorderen_US
dc.subject.emtreeBone mineralizationen_US
dc.subject.emtreeBone radiographyen_US
dc.subject.emtreeChest circumferenceen_US
dc.subject.emtreeChilden_US
dc.subject.emtreeClinical articleen_US
dc.subject.emtreeClinical assessmenten_US
dc.subject.emtreeControlled studyen_US
dc.subject.emtreeDeciduous toothen_US
dc.subject.emtreeDNA sequenceen_US
dc.subject.emtreeDual energy X ray absorptiometryen_US
dc.subject.emtreeEarly loss of deciduous toothen_US
dc.subject.emtreeFemaleen_US
dc.subject.emtreeFollow upen_US
dc.subject.emtreeGene mutationen_US
dc.subject.emtreeGenetic analysisen_US
dc.subject.emtreeGenetic findingen_US
dc.subject.emtreeGrowth retardationen_US
dc.subject.emtreeHead circumferenceen_US
dc.subject.emtreeHeterozygoteen_US
dc.subject.emtreeHumanen_US
dc.subject.emtreeHypophosphatasiaen_US
dc.subject.emtreeHypoplasiaen_US
dc.subject.emtreeInfanten_US
dc.subject.emtreeMaleen_US
dc.subject.emtreeNewbornen_US
dc.subject.emtreeOsteopeniaen_US
dc.subject.emtreePolymerase chain reactionen_US
dc.subject.emtreePreschool childen_US
dc.subject.emtreePyridoxine dependent seizureen_US
dc.subject.emtreeRetrospective studyen_US
dc.subject.emtreeSchool childen_US
dc.subject.emtreeSeizureen_US
dc.subject.emtreeShort statureen_US
dc.subject.emtreeSingle strand conformation polymorphismen_US
dc.subject.emtreeTurk (people)en_US
dc.subject.emtreeGeneticsen_US
dc.subject.emtreeGenotypeen_US
dc.subject.emtreeHypophosphatasiaen_US
dc.subject.emtreePathologyen_US
dc.subject.meshAdulten_US
dc.subject.meshChilden_US
dc.subject.meshFemaleen_US
dc.subject.meshGenotypeen_US
dc.subject.meshHumansen_US
dc.subject.meshHypophosphatasiaen_US
dc.subject.meshMaleen_US
dc.subject.meshRetrospective studiesen_US
dc.subject.meshTurkeyen_US
dc.subject.scopusHypophosphatasia; Asfotase Alfa; Alkaline Phosphataseen_US
dc.subject.wosEndocrinology & metabolismen_US
dc.subject.wosPediatricsen_US
dc.titleClinical and genetic findings of Turkish hypophosphatasia casesen_US
dc.typeArticle
dc.wos.quartileQ4 (Endocrinology & metabolism)en_US
dc.wos.quartileQ3 (Pediatrics)en_US

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