P

 

Paratiroid adenomatozisi 2, ailesel

Kalıtsal - AD

Bilinen 6 fenotip

Tümünde hiperparatiroidizm ve hiperkalsemi temel bulgular

En sık görüleni fenotip 2:

Çenelerde esmer tümörler

Lamina dura silinmesi

Osteoporoz

Kronik pankreatit

Nefrolityazis

Polikistik böbrek

Renal hamartomlar

Tümör rsiki (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