Challenges in the differential diagnosis of multiple endocrine neoplasia syndrome type 1 with isolated family hyperparathyroidism
J. A. Krupinova, 
N. G. Mokrysheva,
N. Y. Kalinchenko,
A. K. Eremkina,
A. N. Polyakov,
V. L. Volodicheva,
D. N. Brovin,
A. A. Kirshin,
E. A. Troshina,
A. N. Tiulpakov
N. G. Mokrysheva,
N. Y. Kalinchenko,
A. K. Eremkina,
A. N. Polyakov,
V. L. Volodicheva,
D. N. Brovin,
A. A. Kirshin,
E. A. Troshina,
A. N. Tiulpakov https://doi.org/10.30629/0023-2149-2020-98-3-218-225
Abstract
Multiple endocrine neoplasia type 1 (MEN-1) is the most common cause of the hereditary type of primary hyperparathyroidism (PHPT). If a family type of PHPT is suspected, a dynamic monitoring of patients and their close relatives should be carried out throughout their lives. We present a clinical case of a family in which four members of a pedigree were diagnosed with familial isolated hyperparathyroidism (FIHP). The diagnosis was changed to MEN-1, because it appeared that one of the patients had pancreatic neuroendocrine tumor. Molecular genetic study of MEN1 by direct by means of Sanger sequencing revealed that six family members had a new heterozygous mutation in exon 9: s. 1252 G> T p. D418Y.
About the Authors
J. A. Krupinova
National Medical Research Research Centre of Endocrinology
Russian Federation
Russian Federation
Julia A. Krupinova — MD; researcher of Endocrinology Research Centre
117036, Moscow
N. G. Mokrysheva
National Medical Research Research Centre of Endocrinology
Russian Federation
117036, Moscow
Russian Federation
117036, Moscow
N. Y. Kalinchenko
National Medical Research Research Centre of Endocrinology
Russian Federation
117036, Moscow
Russian Federation
117036, Moscow
A. K. Eremkina
National Medical Research Research Centre of Endocrinology
Russian Federation
117036, Moscow
Russian Federation
117036, Moscow
A. N. Polyakov
N.N. Blokhin National Medical Research Centre of Oncology of the Health Ministry of Russia
Russian Federation
115478, Moscow
Russian Federation
115478, Moscow
V. L. Volodicheva
National Medical Research Research Centre of Endocrinology
Russian Federation
117036, Moscow
Russian Federation
117036, Moscow
D. N. Brovin
National Medical Research Research Centre of Endocrinology
Russian Federation
117036, Moscow
Russian Federation
117036, Moscow
A. A. Kirshin
Udmurtia Сancer Сenter
Russian Federation
426009, Izhevsk
Russian Federation
426009, Izhevsk
E. A. Troshina
National Medical Research Research Centre of Endocrinology
Russian Federation
117036, Moscow
Russian Federation
117036, Moscow
A. N. Tiulpakov
National Medical Research Research Centre of Endocrinology
Russian Federation
117036, Moscow
Russian Federation
117036, Moscow
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For citations:
Krupinova J.A., Mokrysheva N.G., Kalinchenko N.Y., Eremkina A.K., Polyakov A.N., Volodicheva V.L., Brovin D.N., Kirshin A.A., Troshina E.A., Tiulpakov A.N. Challenges in the differential diagnosis of multiple endocrine neoplasia syndrome type 1 with isolated family hyperparathyroidism. Clinical Medicine (Russian Journal). 2020;98(3):218-225. (In Russ.) https://doi.org/10.30629/0023-2149-2020-98-3-218-225
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