Screening for multiple endocrine neoplasia type I

Autor: M. H. Wheeler, P. R. Maddox, J. S. Woodhead, L. R. Jenkinson, N. J. Bindred
Rok vydání: 1993
Předmět:
Zdroj: European Surgery. 25:55-57
ISSN: 1682-4016
0001-544X
DOI: 10.1007/bf02602037
Popis: Background Multiple endocrine neoplasia type I (MEN I) is a familial condition inherited in autosomal dominant manner, characterized by primary hyperparathyroidism (multiple gland hyperplasia 95%), pancreatic islet cell tumours (65%) and pituitary adenomata (prolactinoma 5%). Screening of family members permits the identification of affected relatives and allows early treatment of the condition before the onset of complications. Methods We have employed a new sensitive immunochemiluminometric assay (ICMA) specific for intact parathyroid hormone together with measurement of serum calcium and prolactin to screen 102 relatives of patients with proven MEN (11 families) and 25 relatives of patients with non-MEN I familial hyperparathyroidism or multiple parathyroid gland hyperplasia. Results 7 MEN I relatives with abnormal biochemical results had significant clinical symptoms (renal calculi 3, duodenal ulcer 3, secondary amenorrhea 1). 15 MEN I relatives had clinical or biochemical evidence of MEN I syndrome. Conclusion We conclude that biochemical screening of MEN I kindred is worthwhile and the intact parathormone assay (ICMA) may increase diagnostic sensitivity.
Databáze: OpenAIRE