[Clinical and genetic study of a familial case of multiple endocrine neoplasia type 1 (MEN 1). From value of multidisciplinary collaboration].
Multiple Endocrine Neoplasia type 1 (MEN 1) is an autosomal dominant familial syndrome characterized by involvement of several endocrine glands, including parathyroid, pancreatic islet cells, anterior pituitary and diffuse neuroendocrine tissues (carcinoids). The gene causing this syndrome has been localized to chromosome 11 but was not cloned up-to-date. Pre-clinical diagnosis in predisposed MEN 1 families was based on the use of genetic linkage analysis with polymorphic DNA probes flanking the disease locus. The set-up collaborative multi-disciplinar medical and surgical network facilitates further clinical and genetic studies on MEN 1 families. Semiological course of the disease is complex and the main objective in clinical follow-up of patients and related is to limit the probability of misdiagnosis. The present report describe the clinical and genetic analysis in a MEN 1 family and the difficulties related to diagnose the disease. An interesting observation on two cases of hyperprolactinemia by two individuals further excluded by genetic analysis assess the potential risk of bias in genetic linkage studies in non-well documented families. Concerted analysis of genetic and bio-clinical data permitted the evaluation of each patient and to exclude the risk of MEN 1 in all children tested. This example demonstrates the need of a complete clinical information previously to genetic analysis and a multi-disciplinar and collaborative approach in follow-up of patients in each family.
Guichard
S
S
Service d'Endocrinologie, Hôpital Edouard Herriot, Lyon.
Giraud
S
S
Rousset
H
H
Lenoir
G M
GM
Salandre
J
J
Hamon
P
P
Chayvialle
J A
JA
Riou
J P
JP
Calender
A
A
D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D005260:Female; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D018761:Multiple Endocrine Neoplasia Type 1 / Q000097:blood* / Q000235:genetics*; D010348:Patient Care Team; D010375:Pedigree; D012306:Risk
Etude clinique et génétique d'une famille prédisposée à la néoplasie endocrinienne multiple de type 1 (NEM 1). De l'intérêt d'une collaboration multidisciplinaire.