A girl diagnosed with familial hypocalciuric hypercalcemia with heterozygous p.Cys575Tyr variation in the CaSR gene

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dc.contributor.authorDündar, İsmail
dc.contributor.authorÇamtosun, Emine
dc.contributor.authorDoğan, Mustafa
dc.contributor.authorKayaş, Leman
dc.contributor.authorÇiftçi, Nurdan
dc.contributor.authorAkıncı, Ayşehan
dc.date.accessioned2024-08-04T19:53:21Z
dc.date.available2024-08-04T19:53:21Z
dc.date.issued2022
dc.departmentİnönü Üniversitesien_US
dc.description.abstractFamilial hypocalciuric hypercalcemia (FHH) is a benign disease associated with heterozygous inactivating mutations in the calcium-sensing receptor (CaSR) gene. This article presents a girl with heterozygous p.Cys575Tyr variation in the CaSR gene. The serum calcium level of a 9.2-year-old girl was 12.4mg/dl in incidental laboratory analysis. On the same occasion, the serum parathyroid hormone (PTH) level was 45 pg/ml, 25(OH) vitamin D level 24.2ng/ml, 1.25 dihydroxy vitamin D level 22pg/ml, and urinary Ca/creatinine ratio <0.01. The ultrasonographic evaluation of the urinary system was unremarkable. The clinical and laboratory findings pointed towards FHD. A heterozygous p.Cys575Tyr (c.1724G>A) variation was detected in the patient's CaSR gene, which was reported before, but no clinical manifestations were specified. In children with asymptomatic hypercalcemia, the diagnosis of FHH should be considered if the PTH level is normal or high and the urinary calcium is low.en_US
dc.identifier.doi10.5455/medscience.2022.08.193
dc.identifier.endpage1733en_US
dc.identifier.issn2147-0634
dc.identifier.issue4en_US
dc.identifier.startpage1731en_US
dc.identifier.trdizinid1168194en_US
dc.identifier.urihttps://doi.org/10.5455/medscience.2022.08.193
dc.identifier.urihttps://search.trdizin.gov.tr/yayin/detay/1168194
dc.identifier.urihttps://hdl.handle.net/11616/89696
dc.identifier.volume11en_US
dc.indekslendigikaynakTR-Dizinen_US
dc.language.isoenen_US
dc.relation.ispartofMedicine Scienceen_US
dc.relation.publicationcategoryMakale - Ulusal Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.titleA girl diagnosed with familial hypocalciuric hypercalcemia with heterozygous p.Cys575Tyr variation in the CaSR geneen_US
dc.typeArticleen_US

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