Paratiroid adenomatozisi, ailesel

Kalıtsal - AD

Bilinen 6 fenotip (en sık görüleni fenotip 2'dir)

Tümünde hiperparatiroidizm ve hiperkalsemi temel bulgular

Oral bulgular fenotip 2'de görülür

Çenelerde esmer tümörler

Lamina dura silinmesi

Osteoporoz

Kronik pankreatit

Nefrolityazis

Polikistik böbrek

Renal hamartomlar

Tümör riski (paratiroid ca, pancreas ca, böbrekte papiller ca, Wilms tümörü, tiroid adenomu)

 

  • Haven CJ, Wong FK, van Dam EWCM, et al. A genotypic and histopathological study of a large Dutch kindred with hyperparathyroidism-jaw tumor syndrome. Journal of Clinical Endocrinology & Metabolism, 85: 1449-1454, 2000

  • Hobbs MR, Rosen IB, Jackson CE. Revised 14.7-cM locus for the hyperparathyroidism-jaw tumor syndrome gene, HRPT2. (Letter) American Journal of Human Genetics, 70: 1376-1377, 2002

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