Familial primary hyperparathyroidism complicated with Wilms' tumor.
We describe a familial occurrence of primary hyperparathyroidism. The proband is a 60-year-old woman who had a parathyroid adenoma. Her older sister had a parathyroid adenoma with cementifying jaw fibroma and her younger sister died of parathyroid adenocarcinoma with pulmonary metastasis at the age of 38. We have not yet obtained evidence for other endocrine disorders suggesting multiple endocrine neoplasia (MEN) in this pedigree. The proband is complicated with Wilms' tumor. It is now widely accepted that respective predisposed genes of MEN type 1 and Wilms' tumor, and PTH gene are located on chromosome 11. The manifestation observed in this case may be related to mutational abnormalities on chromosome 11.
Kakinuma
A
A
First Department of Internal Medicine, University of Occupational & Environmental Health, Kitakyushu.
Morimoto
I
I
Nakano
Y
Y
Fujimoto
R
R
Ishida
O
O
Okada
Y
Y
Inokuchi
N
N
Fujihira
T
T
Eto
S
S
D000230:Adenocarcinoma / Q000235:genetics*; D000236:Adenoma / Q000150:complications / Q000235:genetics*; D005260:Female; D006801:Humans; D006934:Hypercalcemia / Q000209:etiology; D006961:Hyperparathyroidism / Q000209:etiology*; D007573:Jaw Neoplasms / Q000235:genetics; D007680:Kidney Neoplasms / Q000235:genetics*; D007889:Leiomyoma; D008175:Lung Neoplasms / Q000556:secondary; D008297:Male; D008875:Middle Aged; D009377:Multiple Endocrine Neoplasia / Q000235:genetics; D016609:Neoplasms, Second Primary / Q000235:genetics*; D009386:Neoplastic Syndromes, Hereditary / Q000145:classification / Q000235:genetics*; D009808:Odontogenic Tumors / Q000235:genetics; D010282:Parathyroid Neoplasms / Q000150:complications / Q000235:genetics*; D010375:Pedigree; D014594:Uterine Neoplasms; D009396:Wilms Tumor / Q000235:genetics* / Q000556:secondary