Natural history of ENPP1 deficiency: Nationwide Turkish Cohort Study of autosomal-recessive hypophosphataemic rickets type 2

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dc.authoridbayramoglu, elvan/0000-0002-6732-8823
dc.authoridEser, Metin/0000-0001-7118-7958
dc.authoridÇamtosun, Emine/0000-0002-8144-4409
dc.authoridturan, ihsan/0000-0002-5654-247X
dc.authoridPAPATYA ÇAKIR, ESRA DENİZ/0000-0003-4664-7435
dc.authoridDilek, Semine Ozdemir/0000-0003-2100-0301
dc.authoridDursun, Fatma/0000-0003-4880-8175
dc.authorwosidbayramoglu, elvan/AAH-7316-2020
dc.authorwosidEser, Metin/KLE-2190-2024
dc.authorwosidÇamtosun, Emine/AAE-3945-2020
dc.authorwosidturan, ihsan/F-7433-2018
dc.authorwosidPAPATYA ÇAKIR, ESRA DENİZ/GQO-9634-2022
dc.contributor.authorDursun, Fatma
dc.contributor.authorTuran, Ihsan
dc.contributor.authorBitkin, Eda celebi
dc.contributor.authorBayramoglu, Elvan
dc.contributor.authorCayir, Atilla
dc.contributor.authorErdeve, Senay Savas
dc.contributor.authorCakir, Esra Deniz Papatya
dc.date.accessioned2024-08-04T20:55:05Z
dc.date.available2024-08-04T20:55:05Z
dc.date.issued2024
dc.departmentİnönü Üniversitesien_US
dc.description.abstractObjectiveAutosomal-recessive hypophosphataemic rickets type 2 (ARHR2) is a rare disease that is reported in survivors of generalized arterial calcification of infancy (GACI).Design, Patients and MeasurementThe objective of this study was to characterize a multicenter paediatric cohort with ARHR2 due to ectonucleotide pyrophosphatase/phosphodiesterase family member 1 (ENPP1) deficiency and with a diagnosis of GACI or GACI-related findings. The clinical, biochemical and genetic characteristics of the patients were retrospectively retrieved.ResultsWe identified 18 patients from 13 families diagnosed with ARHR2. Fifteen of the patients had an ENPP1 variation confirmed with genetic analyses, and three were siblings of one of these patients, who had clinically diagnosed hypophosphataemic rickets (HRs) with the same presentation. From nine centres, 18 patients, of whom 12 (66.7%) were females, were included in the study. The mean age at diagnosis was 4.2 +/- 2.2 (1.6-9) years. The most frequently reported clinical findings on admission were limb deformities (66.6%) and short stature (44.4%). At diagnosis, the mean height SD was -2.2 +/- 1.3. Five of the patients were diagnosed with GACI in the neonatal period and treated with bisphosphonates. Other patients were initially diagnosed with ARHR2, but after the detection of a biallelic variant in the ENPP1 gene, it was understood that they previously had clinical findings associated with GACI. Three patients had hearing loss, and two had cervical fusion. After the treatment of HRs, one patient developed calcification, and one developed intimal proliferation.ConclusionARHR2 represents one manifestation of ENPP1 deficiency that usually manifests later in life than GACI. The history of calcifications or comorbidities that might be associated with GACI will facilitate the diagnosis in patients with ARHR2, and patients receiving calcitriol and phosphate medication should be carefully monitored for signs of calcification or intimal proliferation.en_US
dc.identifier.doi10.1111/cen.15028
dc.identifier.issn0300-0664
dc.identifier.issn1365-2265
dc.identifier.pmid38324408en_US
dc.identifier.scopus2-s2.0-85184427653en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.urihttps://doi.org/10.1111/cen.15028
dc.identifier.urihttps://hdl.handle.net/11616/101801
dc.identifier.wosWOS:001157670700001en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherWileyen_US
dc.relation.ispartofClinical Endocrinologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectautosomal-recessive hypophosphataemic rickets type 2en_US
dc.subjectENPP1 deficiencyen_US
dc.subjectgeneralized arterial calcification of infancyen_US
dc.titleNatural history of ENPP1 deficiency: Nationwide Turkish Cohort Study of autosomal-recessive hypophosphataemic rickets type 2en_US
dc.typeArticleen_US

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