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Hiperparatiroidizm

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Fenotipler:

  • Hiperparatiroidizm-Çene tümörü sendromu (Hyperparathyroidism-jaw tumor)

Kalıtsal - AD

Primer hiperparatiroidizm (paratiroid adenomu/karsinomu)

Primer hiperparatiroidizme özgü bulgular (kanda ve idrarda yüksek kalsiyum düzeyi, nefrolityazis, osteopeni, kemik ve eklem ağrıları, kaslarda güçsüzlük, kabızlık)

Patolojik kırıklar

Basit renal kistler/hamartomalar

Nefrokalsinozis

Uterusun benign ya da malign tümörleri

Çene tümörleri (arka bölümlerde fibo-osseöz oluşumlar; (ossifying fibroma, sementleşen fibroma, semento-ossifying fibroma)

Tümör kitlesi nedeniyle maloklüzyon

Lamina dura silik

Yineleyen pankreatit

  • Ailesel izole hiperparatiroidizm

Kalıtsal - AD

Çene tümörleri dışında tüm bulgular

  • Paratiroid karsinomu

Ailesel ya da Spontan paratiroid karasinomu (CDC7 geni mutasyonu)

 

  • Chen JD, Morrison C, Zhang C, et al. Hyperparathyroidism-jaw tumour syndrome. Journal of Internal Medicine, 253:634–642, 2003

  • Aldred MJ, Talacko AA, Savarirayan R, et al. Dental findings in a family with hyperparathyroidism-jaw tumor syndrome and a novel HRPT2 gene pathogenic variant. Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, & Endodontology, 101:212–218, 2006

  • Pimenta FJ, Gontijo Silveira LF, Tavares GC, et al. HRPT2 gene alterations in ossifying fibroma of the jaws. Oral Oncology, 42:735–739, 2006

  • Guarnieri V, Scillitani A, Muscarella LA, et al. Diagnosis of parathyroid tumors in familial isolated hyperparathyroidism with HRPT2 pathogenic variant: implications for cancer surveillance. Journal of Clinical Endocrinology & Metabolism, 91:2827–2832, 2006

  • Bradley KJ, Cavaco BM, Bowl MR, et al. Parafibromin pathogenic variants in hereditary hyperparathyroidism syndromes and parathyroid tumours. Clinical Endocrinology (Oxford), 64:299–306, 2006

  • Kutcher MR, Rigby MH, Bullock M, et al. Hyperparathyroidism-jaw tumor syndrome. Head & Neck, 35:E175–177, 2013

  • Bricaire L, Odou MF, Cardot-Bauters C, et al. Frequent large germline HRPT2 deletions in a French National cohort of patients with primary hyperparathyroidism. Journal of Clinical Endocrinology & Metabolism, 98:E403–408, 2013

  • Shibata Y, Yamazaki M, Takei M, et al. Early-onset, severe, and recurrent primary hyperparathyroidism associated with a novel CDC73 mutation. Endocrine Journal, 62: 627-632, 2015