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An adolescent case of familial hyperparathyroidism with a germline frameshift mutation of the CDC73 gene

A 13-yr-old boy who complained of persistent nausea, vomiting and weight loss had hypercalcemia and an elevated intact PTH level. Computed tomography confirmed two tumors in the thyroid gland. The tumors were surgically removed and pathologically confirmed as parathyroid adenoma. Because his materna...

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Detalles Bibliográficos
Autores principales: Takeuchi, Takako, Yoto, Yuko, Tsugawa, Takeshi, Kamasaki, Hotaka, Kondo, Atsushi, Ogino, Jiro, Hasegawa, Tadashi, Yama, Naoya, Anan, Sawa, Uchino, Shinya, Ishikawa, Aki, Sakurai, Akihiro, Tsutsumi, Hiroyuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society for Pediatric Endocrinology 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4628953/
https://www.ncbi.nlm.nih.gov/pubmed/26568659
http://dx.doi.org/10.1297/cpe.24.185
Descripción
Sumario:A 13-yr-old boy who complained of persistent nausea, vomiting and weight loss had hypercalcemia and an elevated intact PTH level. Computed tomography confirmed two tumors in the thyroid gland. The tumors were surgically removed and pathologically confirmed as parathyroid adenoma. Because his maternal aunt and grandmother both had histories of parathyroid tumors, genetic investigation was undertaken for him, and a germline frameshift mutation of the CDC73 gene was identified. CDC73 gene analysis should be done on individuals who are at risk of familial hyperparathyroidism, including those who are asymptomatic, and they should be followed for potential primary hyperparathyroidism and associated disorders including resultant parathyroid carcinoma.