Familial primary hyperparathyroidism: study of the pedigree in three generations.
The familial occurrence of primary hyperparathyroidism in which the proband is a 55-year-old man is reported. His 58-year-old sister and 40-year-old brother had undergone partial parathyroidectomy, and histological examination revealed hyperplasia in both cases. Their father and a daughter of the proband had a history of nephrolithiasis. The three siblings showed high levels of plasma parathyroid hormone (even the two postoperative cases). All of them had a history of nephrolithiasis and peptic ulcers. In the proband, image studies did not reveal any abnormality in the neck region. At present, the three cases do not exhibit any abnormalities in the pancreas or the pituitary by imaging studies and endocrine tests.
Department of Metabolic Medicine, Kumamoto University Medical School, Japan.
M
M
Todaka
K
K
Yamaguchi
N
N
Miyamura
M
M
Uji
K
K
Nishida
M
M
Uehara
M
M
Sakakida
H
H
Kishikawa
M
M
Shichiri
D000328:Adult; D005260:Female; D006801:Humans; D006961:Hyperparathyroidism / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D009377:Multiple Endocrine Neoplasia / Q000235:genetics; D010281:Parathyroid Hormone / Q000097:blood; D016105:Parathyroidectomy; D010375:Pedigree; D010437:Peptic Ulcer / Q000235:genetics; D014545:Urinary Calculi / Q000235:genetics
D010281:Parathyroid Hormone