Open AccessSurgical treatment of a patient with multiple endocrine neoplasia type 2A
Author(s) -
Timur A. Britvin,
Е. В. Бондаренко,
Alexey Krivosheev,
Olga Nechaeva,
Т. С. Тамазян,
Д. В. Подрез,
Л. Е. Гуревич,
П. А. Коростелева
Publication year - 2020
Publication title -
vestnik hirurgii im. i.i. grekova/vestnik hirurgii imeni i.i. grekova
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.136
H-Index - 7
eISSN - 2686-7370
pISSN - 0042-4625
DOI - 10.24884/0042-4625-2020-179-4-79-86
Subject(s) - medicine , metanephrines , multiple endocrine neoplasia , multiple endocrine neoplasia type 2 , physical examination , endocrine system , calcitonin , pheochromocytoma , medical history , enucleation , pathology , radiology , hormone , surgery , mutation , germline mutation , biochemistry , chemistry , gene
The diagnosis and treatment of multiple endocrine neoplasia type 2A syndrome or Sipple’s syndrome, as well as other endocrine hereditary syndromes, presents certain difficulties for several reasons. One of them is the rarity of this pathology and, as a result, the lack of awareness of physicians. In addition, the diagnosis requires a comprehensive examination and a high level of clinical, laboratory, radiation and morphological diagnostics. And finally, surgical treatment, which is essentially the only method, involves an individual approach to each patient. We present the clinical case of Sipple's syndrome in a 39-year-old man. The diagnosis was carried out of medical history, clinical examination, laboratory tests (24-hour urine excretion of metanephrines and normetanephrines; serum calcium, calcitonin and parathyroid hormone levels), neck ultrasound and abdominal CT scan and was confirmed by histopathological examination and genetic testing for RET mutation. The achievement of the endpoint in the form of normalization of blood pressure and the absence of adrenal insufficiency was due to radical surgical treatment.