Left ventricular systolic dysfunction related to adrenal ınsufficiency in a case due to autoimmune polyendocrine syndrome type 1 with a novel variant

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dc.authorscopusidZeynep Ocak / 26637163700
dc.authorwosidZeynep Ocak / DJN-8048-2022en_US
dc.contributor.authorÖzer, Yavuz
dc.contributor.authorTuran, Hande
dc.contributor.authorÇakır, Aydilek Dağdeviren
dc.contributor.authorGökalp, Selman
dc.contributor.authorOcak, Zeynep
dc.contributor.authorErcan, Oya
dc.contributor.authorEvliyaoğlu, Olcay
dc.date.accessioned2022-11-12T06:58:45Z
dc.date.available2022-11-12T06:58:45Z
dc.date.issued2022en_US
dc.departmentİstinye Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümüen_US
dc.description.abstractIntroduction: Primary adrenal insufficiency associated with cardiomyopathy has been rarely reported in children. We report a case of left ventricular (LV) systolic dysfunction related to adrenal insufficiency with autoimmune polyendocrine syndrome type 1 (APS1). Case Presentation: A 7-year-old girl presented with a loss of consciousness. She had hyperpigmentation over joints and enamel hypoplasia. Laboratory tests showed hypoglycemia, hyponatremia, hypocalcemia, and hyperphosphatemia. Endocrine evaluations revealed low serum parathyroid hormone, low cortisol, and high ACTH. Echocardiography showed moderate to severe mitral regurgitation and LV systolic dysfunction. Serum pro-brain natriuretic peptide (pro-BNP) level was high (2,348 pg/mL). Adrenal insufficiency, hypoparathyroidism, and enamel dysplasia suggested APS1. A novel homozygous variant in the AIRE gene, NM_000383, p.Cys322Arg (c.964T>C) confirmed the diagnosis. Calcium, calcitriol, and hydrocortisone treatments were started. Serum pro-BNP level returned to normal, and LV systolic function improved. Conclusion: Here, we present a case of adrenal insufficiency and hypoparathyroidism associated with LV systolic dysfunction whose cardiac findings improved completely with hydrocortisone and calcitriol treatments. Our case is the second reported case of APS1 presenting with LV dysfunction.en_US
dc.identifier.citationÖzer, Y., Turan, H., Çakır, A. D., Gökalp, S., Ocak, Z., Ercan, O., & Evliyaoğlu, O. (2022). Left Ventricular Systolic Dysfunction Related to Adrenal Insufficiency in a Case due to Autoimmune Polyendocrine Syndrome Type 1 with a Novel Variant. Molecular Syndromology, 1-6.en_US
dc.identifier.doi10.1159/000526221en_US
dc.identifier.issn1661-8769en_US
dc.identifier.scopus2-s2.0-85141244340en_US
dc.identifier.urihttp://dx.doi.org/10.1159/000526221
dc.identifier.urihttps://hdl.handle.net/20.500.12713/3339
dc.identifier.wosWOS:000868854600001en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.institutionauthorOcak, Zeynep
dc.language.isoenen_US
dc.publisherKARGERen_US
dc.relation.ispartofMOLECULAR SYNDROMOLOGYen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectLeft Ventricular Systolic Dysfunctionen_US
dc.subjectAdrenal İnsufficiencyen_US
dc.subjectAPS1en_US
dc.subjectAIRE Geneen_US
dc.titleLeft ventricular systolic dysfunction related to adrenal ınsufficiency in a case due to autoimmune polyendocrine syndrome type 1 with a novel varianten_US
dc.typeLetteren_US

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