An adolescent case of familial hyperparathyroidism with a germline frameshift mutation of the <i>CDC73</i> gene

DOI Web Site 参考文献17件
  • Takeuchi Takako
    Department of Pediatrics, Sapporo Medical University School of Medicine, Sapporo, Japan
  • Yoto Yuko
    Department of Pediatrics, Sapporo Medical University School of Medicine, Sapporo, Japan
  • Tsugawa Takeshi
    Department of Pediatrics, Sapporo Medical University School of Medicine, Sapporo, Japan
  • Kamasaki Hotaka
    Department of Pediatrics, Sapporo Medical University School of Medicine, Sapporo, Japan
  • Kondo Atsushi
    Department of Otolaryngology, Sapporo Medical University School of Medicine, Sapporo, Japan
  • Ogino Jiro
    Department of Surgical Pathology, Sapporo Medical University School of Medicine, Sapporo, Japan
  • Hasegawa Tadashi
    Department of Surgical Pathology, Sapporo Medical University School of Medicine, Sapporo, Japan
  • Yama Naoya
    Department of Radiology Oncology, Sapporo Medical University School of Medicine, Sapporo, Japan
  • Anan Sawa
    Department of Pediatrics, Kinikyo Fushiko Jujo Clinic, Sapporo, Japan
  • Uchino Shinya
    Department of Surgery, Noguchi Thyroid Clinic and Hospital Foundation, Beppu, Japan
  • Ishikawa Aki
    Department of Medical Genetics, Sapporo Medical University School of Medicine, Sapporo, Japan
  • Sakurai Akihiro
    Department of Medical Genetics, Sapporo Medical University School of Medicine, Sapporo, Japan
  • Tsutsumi Hiroyuki
    Department of Pediatrics, Sapporo Medical University School of Medicine, Sapporo, Japan

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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.

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