Синдром фон Гиппеля–Линдау: клинический случай

The study of the genetic aspects of endocrine diseases is based on the aspiration to develop the methods of early diagnosis, treatment and observation of patients. Von Hippel-Lindau syndrome is genetically determined disease characterized by damage of various organs and systems. The article presents a clinical case of treatment of a patient with retinal detachment who was first admitted to the surgical department of the Federal State Budgetary Institution «NMIC of Endocrinology» of the Ministry of Health of Russia with complaints of dry mouth, general weakness. Further examination, revealed pathological changes in the adrenal glands, kidneys, brain, pancreas, spleen, spinal cord. The presented clinical case demonstrates the need for a multidisciplinary approach to the management of patients with von Hippel-Lindau syndrome.В основе изучения генетических аспектов заболеваний органов эндокринной системы лежит стремление разработать методы ранней диагностики, лечения и наблюдения пациентов. Синдром фон Гиппеля–Линдау является генетически детерминированным заболеванием, характеризующимся поражением различных органов и систем. В статье приведен клинический случай лечения пациента с отслойкой сетчатки, который впервые поступил в хирургическое отделение ФГБУ «НМИЦ эндокринологии» Минздрава России с жалобами на сухость во рту, общую слабость. При дальнейшем обследовании обнаружены патологические изменения надпочечников, почек, головного мозга, поджелудочной железы, селезенки, спинного мозга. Представленный клинический случай демонстрирует необходимость мультидисциплинарного подхода к ведению пациентов с синдромом фон Гиппеля–Линдау

Hypoparathyroidism

Гипопаратиреоз связан с недостаточным синтезом околощитовидными железами биологически активного паратиреоидного гормона (проявляется гипокальциемией, гиперфосфатемией и резким снижением паратиреоидного гормона (ПТГ) в сыворотке крови) или с резистентностью тканей-мишеней к ПТГ (гипокальциемия, гиперфосфатемия, при этом уровень ПТГ в сыворотке повышен)

Еctopic ACTH syndrome: clinical picture, diagnosis, treatment

Diagnosis and treatment of ectopic ACTH-syndrome currently is one of the most challenging problems among other forms of endogenous hypercorticism. This syndrome is associated with presence of extrapituitary tumors characterized with different histogenesis and localization, which produce adrenocorticotropic hormone (ACTH), or – rarely – corticotrophin-releasing hormone. In most cases the ectopic synthesis of ACTH is performed in bronchial carcinoid tumors (36–46%), oat cell cancer (18–20%), medullary thyroid cancer (3–7%), pheochromocytoma (9–23%), other sites are infrequent (pancreas, thymus, parotid gland, ovaries, uterus, prostate, colon, stomach, esophagus, etc.). Much of these tumors are aggressive and are characterized with propensity to metastasize and relapse. Currently there are few contradictory data on the comparative evaluation of the effectiveness of methods of topical diagnosis of the source of ectopic ACTH-secretion, and therefore there is an urgent need to develop an optimal and most efficient algorithm for diagnostic procedures to determine the extent of the tumor in patients with ectopic ACTH-syndrome. Indications for surgery, timing and extent of surgical intervention, the effectiveness of the operation, the causes and frequency of relapses are still discussed.The present difficulties of diagnosis, as well as the lack of a unified approach to the treatment of this disease in the complex, often lead to the progression and development of a large number of serious complications functions of up to disability, which in turn does not lead to significant improvement of quality of life. Thus further research is necessary to study of this diseas

The Prognostic Value of Parathyroid Hormone for the Diagnosis of Early Postoperative Hypocalcemia after Thyroidectomy

Postoperative hypocalcemia is the most frequent complication after thyroidectomy. One goal of our study was to investigate the parathyroid hormone (PTH) as the main predictor and early postoperative hypocalcemia. The study prospectively included 135 patients who from October 2011 to May 2013 was performed thyroidectomy. According to the results according to logistic regression analysis, postoperative PTH level below 10 pg/ml was the main predictor of postoperative hypocalcemia ( p 0,001). Sensitivity, specificity, positive and negative predictive value of PTH 10 pg / ml for predicting postoperative hypocalcemia were 71%, 99%, 97% and 86%, respectively. It can be concluded that measurement of PTH after 1 hour, and / or on the following day after thyroidectomy hypocalcemia predicts with high sensitivity, specificity. And early detection of PTH allows timely appoint agents calcium and vitamin D to prevent clinical manifestations of postoperative hypoparathyroidism

Methods of topical diagnosis of ectopic ACTH-producing tumors of different localization (review of the literature)

Topical diagnostic methods in ACTH-producing neuroendocrine tumors with various localization. Topical diagnostic of ACTH-producing neuroendocrine tumors is a major stage in management of patients with ACTH-producing syndrome, because one of the main methods of treatment of such patients is surgical. There are several methods of topical diagnostic of ACTH-producing tumors with ectopic ocalization which have some advantages and disadvantages. At the same time until now any of existing methods of research doesn't guarantee 100% result that leads to obtaining the false positive conclusions and, as a result, carrying out unreasonable surgical operation. This report is about the main methods of topical diagnosis and their comparative characteristics. Besides possible ways to increase sensitivity and efficiency of methods and improve results are discussed in article

Methods of topical diagnosis of ectopic ACTH-producing tumors of different localization (review of the literature)

Topical diagnostic methods in ACTH-producing neuroendocrine tumors with various localization. Topical diagnostic of ACTH-producing neuroendocrine tumors is a major stage in management of patients with ACTH-producing syndrome, because one of the main methods of treatment of such patients is surgical. There are several methods of topical diagnostic of ACTH-producing tumors with ectopic ocalization which have some advantages and disadvantages. At the same time until now any of existing methods of research doesn't guarantee 100% result that leads to obtaining the false positive conclusions and, as a result, carrying out unreasonable surgical operation. This report is about the main methods of topical diagnosis and their comparative characteristics. Besides possible ways to increase sensitivity and efficiency of methods and improve results are discussed in article

ACTH-producing neuroendocrine tumor of thymus with recurrences. Clinical case

One of the most difficult in diagnostic and treatment options for endogenous Cushing is the ectopic ACTH syndrome, which causes the development of tumors of different histogenesis localization producing adrenocorticotropic hormone (ACTH), and much less - corticotropin hormone (CRH). ACTH-secreting tumors varied in location, morphological structure and the degree of malignancy. Most of these tumors are characterized by an aggressive course with a propensity to metastasize and relapse. The article presents data of the prevalence, pathogenesis of ectopic ACTH tumors localized in the thymus, analyzis of clinical, morphological features, the methods of diagnosis and treatment. Based on the current literature, the world and our own experience on the diagnosis and treatment of patients with ectopic ACTH syndrome with localization of hormone production in the thymus, we want to highlight the current state of the problem in order to create the most efficient algorithm for diagnostic search and treatment of this difficult group of patients

Difficulties in the Diagnosis of ACTH-ectopic Tumors. Case Report

At the present time topical diagnosis of ACTH-producing neuroendocrine tumors of different localization is the most challenging problem for endocrinologists around the world. Despite the significant improvement of existing diagnostic techniques, in 9-19% localization of the source of ectopic secretion ACTH re-mains undetected throughout life. Thus even regular using of routine laboratory tests and visual methods of diag- nosis do not allow to reveal the primary tumor. This article describes a case report, that is particular by a long period of ectopic ACTH syndrome detection. However, this demonstrates the importance of inten-sive and prolonged diagnosis of primary tumor, that can significantly reduce the morbidity and mortality of these patients and improve their prognosis

A Late Onset of Adrenocortical Cancer Assosiated with Beckwith-Wiedemann Syndrome

Beckwith-Wiedemann syndrome (BWS) is a genetic overgrowth disorder involving a predisposition to tumor development. The common features of Beckwith-Wiedemann syndrome include omphalocele, macroglos- sia and macrosomia. The increased risk for neoplasia is concentrated in the first eight years of life. However, this case presents a late onset of adrenocortical cancer assosiated with Beckwith-Wiedemann syndrome

Sindrom mnozhestvennykh endokrinnykh neoplaziy I tipa

Синдром множественных эндокринных неоплазий 1 типа (МЭН-1) это сочетание новообразований в органах эндокринной системы, характеризующееся высокой пенентрантностью и наследующееся по аутосомно-доминантному типу. Впервые его описал П.Вермер в 1954 г. как сочетание опухолей в паращитовидных железах, островковой ткани поджелудочной железы и аденогипофизе, выявленное у близких родственников в 2 семьях. Распространенность синдрома 1 случай на 1 миллион человек. Частота наследственной передачи 50%. Основным компонентом синдрома МЭН I является первичный гиперпаратиреоз ПГ, встречается более чем в 95% случаев, далее следуют островковоклеточные опухоли (80% пациентов), из них чаще всего встречаются инсулиномы и гастриномы (встречаются в трети случаев), опухоли аденогипофиза (54% пациентов). Обычно одним из наиболее распространенных и ранних проявлений синдрома МЭН 1 является первичный гиперпаратиреоз. Развивается заболевание гораздо раньше, чем при спорадических формах, обычно в возрасте 20-25 лет, характерно поражение трех или всех четырех желез. В менее чем 10% наследственных случаев первым клиническим проявлением синдрома МЭН 1 являются опухоли гипофиза, в большинстве случаев это пролактинсекретирующие макроаденомы. Частота встречаемости панкреатических нейроэндокринных опухолях при синдроме МЭН 1 составляет 30-75% клинически явных случаев и достигает 80-90% при аутопсийных исследованиях. Манифестируют опухоли поджелудочной железы обычно после 40 лет, хотя биохимические исследования и визуализационные методики могут выявить бессимптомные опухоли уже в течение третьей декады жизни. Нейроэндокринные опухоли при МЭН 1 имеют мультицентрический рост и могут быть представлены как микроаденомами, макроаденомами, так и инвазивными/метастазирующими карциномами. Основные места локализации поджелудочная железа и субмукозная оболочка двенадцатиперстной кишки. Сочетание поражения трех эндокринных желез на момент постановки диагноза (особенно если заболевание выявляется в молодом возрасте) наблюдается только в 30% случаев, что существенно затрудняет своевременную диагностику и снижает достоверность прогноза. С другой стороны, дебют заболевания в раннем (до 20 лет) возрасте и полиорганность поражения указывает на наследственный характер заболевания. Приводим собственный клинический пример