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Clinical Significance of Hypophosphatasemia in Children

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dc.contributor.authorBEREKET, ABDULLAH
dc.contributor.authorsBayramli, Rana; Cevlik, Tulay; Guran, Tulay; Atay, Zeynep; Bas, Serpil; Haklar, Goncagul; Bereket, Abdullah; Turan, Serap
dc.date.accessioned2022-03-12T22:41:08Z
dc.date.available2022-03-12T22:41:08Z
dc.date.issued2020
dc.description.abstractLow serum alkaline phosphatase (sALP)-hypophosphatasemia-is a characteristic of hypophosphatasia (HPP), but related to several clinical conditions. Here, we evaluated the frequency, persistency and the etiology of hypophosphatasemia in children. In retrospective analyses of sALP measurements from children, evaluated according to in-house constructed age- and sex-specific reference ranges, patients with no normal sALP measurement (Unresolved hypophosphatasemia) were invited for reanalysis. Prospectively, ALP substrates, pyridoxal-5-phosphate (PLP), and phosphoethanolamine (PEA) were measured in patients with persistent hypophosphatasemia. Radiographs and ALPL gene sequencing for HPP were performed to the cases with elevated PEA and/or PLP. From 130,340 sALP measurements of 93,162 patients, hypophosphatasemia was detected in 1404 samples from 867 patients (0.9%). Among them, 745 had at least one normal sALP values in laboratory records, grouped as transient hypophosphatasemia. 75 out of 122 patients with unresolved hypophosphatasemia could be reanalyzed for sALP, of whom PLP and PEA measurements were required in 37 due to persistent hypophosphatasemia. Both PEA and PLP were elevated in 4 patients, and ALPL gene analysis showed heterozygous mutations in 3 patients and homozygous in 1 patient. Elevated PEA with normal PLP were detected in 3 patients, and one had a heterozygous ALPL mutation. Anemia was the most common diagnosis, and upper respiratory tract infections and chronic diseases were more common in transient and unresolved hypophosphatasemia, respectively. In conclusion, reflected persistent hypophosphatasemia frequency was 1/1552 (0.06%) in this large pediatric cohort and, ALPL gene mutations were detected in 13.5% (5/37) of the studied cases. Although biochemical hypophosphatasemia is not uncommon, clinically significant HPP is rare.
dc.identifier.doi10.1007/s00223-020-00677-4
dc.identifier.eissn1432-0827
dc.identifier.issn0171-967X
dc.identifier.pubmed32088736
dc.identifier.urihttps://hdl.handle.net/11424/236070
dc.identifier.wosWOS:000516390300001
dc.language.isoeng
dc.publisherSPRINGER
dc.relation.ispartofCALCIFIED TISSUE INTERNATIONAL
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectBone
dc.subjectAlkaline phosphatase
dc.subjectReference ranges
dc.subjectTransient hypophosphatasemia
dc.subjectPersistent hypophosphatasemia
dc.subjectHypophosphatasia
dc.subjectALKALINE-PHOSPHATASE LEVELS
dc.subjectINFANTILE HYPOPHOSPHATASIA
dc.subjectVALIDATION
dc.subjectCHILDHOOD
dc.subjectDIAGNOSIS
dc.subjectADULTS
dc.titleClinical Significance of Hypophosphatasemia in Children
dc.typearticle
dspace.entity.typePublication
local.avesis.id8747423d-fe04-4a60-832e-a56abd76c38f
local.import.packageSS17
local.indexed.atWOS
local.indexed.atSCOPUS
local.indexed.atPUBMED
local.journal.numberofpages8
local.journal.quartileQ2
oaire.citation.endPage615
oaire.citation.issue6
oaire.citation.startPage608
oaire.citation.titleCALCIFIED TISSUE INTERNATIONAL
oaire.citation.volume106
relation.isAuthorOfPublication669e9474-4e39-453f-a4bc-4ede9cb5abac
relation.isAuthorOfPublication.latestForDiscovery669e9474-4e39-453f-a4bc-4ede9cb5abac

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