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dc.contributor.authorCakir, Aydilek Dagdeviren
dc.contributor.authorTuran, Hande
dc.contributor.authorDURMAZ, ASUDE
dc.contributor.authorEvliyaoglu, Olcay
dc.contributor.authorErcan, Oya
dc.contributor.authorAYKUT, AYÇA
dc.date.accessioned2021-03-03T14:40:34Z
dc.date.available2021-03-03T14:40:34Z
dc.date.issued2018
dc.identifier.citationCakir A. D. , Turan H., AYKUT A., DURMAZ A., Ercan O., Evliyaoglu O., "Two Childhood Pheochromocytoma Cases due to von Hippel-Lindau Disease, One Associated with Pancreatic Neuroendocrine Tumor: A Very Rare Manifestation", JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, cilt.10, sa.2, ss.179-182, 2018
dc.identifier.issn1308-5727
dc.identifier.otherav_3ad0881f-e224-4188-8722-851325485a2a
dc.identifier.othervv_1032021
dc.identifier.urihttp://hdl.handle.net/20.500.12627/43520
dc.identifier.urihttps://doi.org/10.4274/jcrpe.5078
dc.description.abstractvon Hippel-Lindau (VHL) disease is an autosomal dominantly inherited disorder, characterized by hemangioblastomas of the retina and central nervous system (CNS); renal cysts; clear cell carcinoma; pheochromocytoma (PCC); endolymphatic sac tumors; cystadenomas of the epididymis in males; broad ligament of uterus in females; pancreatic cysts; cystadenomas; and neuroendocrine tumors. We report two cases of VHL disease that presented with PCC as the first manifestation. Further clinical developments during follow-up, hemangioblastoma of CNS in one case and a pancreatic neuroendocrine tumor (PNET) in the second case led to the diagnosis of VHL disease. Genetic analyses of the two cases revealed p.Arg161Gln (c.482G>A) and p.Leu129Pro (c.386T>G) heterozygous missense mutations in the VHL gene, respectively. In children, PCC may be the only and/or initial manifestation of VHL with delayed manifestations of the syndrome in other organs. PNET is a very rare manifestation of VHL disease. To the best of our knowledge, this is only the second reported case presenting with a combination of a PNET and bilateral PCC as components of childhood VHL disease. Pediatric patients diagnosed with PCC should be investigated for genetic causes and especially for VHL.
dc.language.isoeng
dc.subjectİç Hastalıkları
dc.subjectEndokrinoloji ve Metabolizma Hastalıkları
dc.subjectSağlık Bilimleri
dc.subjectÇocuk Sağlığı ve Hastalıkları
dc.subjectDahili Tıp Bilimleri
dc.subjectTıp
dc.subjectPEDİATRİ
dc.subjectKlinik Tıp (MED)
dc.subjectKlinik Tıp
dc.subjectENDOKRİNOLOJİ VE METABOLİZMA
dc.titleTwo Childhood Pheochromocytoma Cases due to von Hippel-Lindau Disease, One Associated with Pancreatic Neuroendocrine Tumor: A Very Rare Manifestation
dc.typeMakale
dc.relation.journalJOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
dc.contributor.departmentEge Üniversitesi , Tıp Fakültesi , Dahili Tıp Bilimleri Bölümü
dc.identifier.volume10
dc.identifier.issue2
dc.identifier.startpage179
dc.identifier.endpage182
dc.contributor.firstauthorID9054


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