Primary hyperparathyroidism (PHPT) is caused by parathyroid malignant neoplasm in 1% of cases. The risk of the latter is higher in patients with symptomatic PHPT. The prognosis in this group of patients depends on the extent of the process and primary surgical intervention. In these cases, the differential diagnosis between secondary foci in the bones associated with parathyroid cancer and hyperparathyroid osteodystrophy is a challenging problem. This article describes two cases of severe PHPT accompanied by hyperparathyroid osteodystrophy suspected for metastatic parathyroid cancer. Positron emission tomography in combination with computed tomography (PET/CT) with 18F-fluorodeoxyglucose (18F-FDG) and/or 18F-fluorocholine was included in the examination algorithm. In both cases, pronounced bone changes similar to parathyroid metastases were observed. Accumulation of 18F-fluorocholine was also observed only in altered parathyroid gland. Histological examination of postoperative material verified benign parathyroid tumors, and characteristic lesions of bone tissue were regarded as areas of osteodystrophy. Therefore, accumulation of 18F-fluorocholine at the areas of bone destruction does not enable differentiation between hyperparathyroid osteodystrophy and metastatic lesions; further research is required to assess sensitivity and specificity of the method with respect to topical diagnosis of altered parathyroid gland.
When primary hyperparathyroidism (PHPT) is diagnosed in a young patient in the absence of other clinical manifestations differential diagnosis between a sporadic form of PHPT and PHPT as the first manifestation of one of hereditary syndromes may be challenging. Diagnosis of sporadic or hereditary PHPT determines the extent of surgical intervention, a strategy for further observation and treatment, and the need for examination and treatment of first-degree relatives. Aim of the study — to determine genetic characteristics of PHPT with manifestation at a young age (<40 years old) with clinically sporadic PHPT and familial isolated hyperparathyroidism (FIHP).Material and methods. 40 patients with manifestation of PHPT at the age younger than 40 years, 4 of which with FIHP, were included in the study. In 11 patients Sanger sequencing of MEN1 gene was performed (ABI 3130 Genetic Analyser, «Applied Biosystems», USA). 37 patients underwent next-generation sequencing (NGS) (Ion Torrent PGM, Thermo Fisher Scientific — Life Technologies, USA) using a panel of candidate genes (MEN1, CASR, CDC73, CDKN1A, CDKN1B, CDKN1C, CDKN2A, CDKN2C, CDKN2D). Results. In 3 (7,5%) patients (1 of which with FIHP) we revealed germline heterozygous mutations in MEN1 gene: in exon 9 p.D418N, exon 3 p.R176Q, intron 3 с.654+1G>A. In 4 (4/40, 10%) patients we revealed germline heterozygous mutations in CDC73 gene: 3 nonsense mutations in patients with parathyroid carcinoma — in exon 3 p.R91X, exon 6 p.Q166X, exon 7 p.R229X, and 1 missense mutation in a patient with parathyroid hyperplasia in exon 8 p.R263C. Conclusions. In the majority of cases (75%) PHPT in young patients without positive family history is sporadic. Search for germline mutations in the genes, leading to development of hereditary forms of PHPT (first of all in MEN1 and CDC73), is appropriate in young patients with positive family history, or when positive family history may be suspected, and in patients with parathyroid carcinoma. In the majority (75%) of FIHP cases search for other, probably yet unknown, genes is necessary.
Aim. To evaluate the efficiency of topical negative pressure wound therapy (NPWT) compared with standard therapy for the regeneration of the soft tissues of the lower extremities in patients with diabetic foot syndrome. Materials and Methods. The effects of negative pressure therapy on the clinical (size, tissue oxygenation), histological (light microscopy) and immunohistochemical (CD68, MMP-9, TIMP-1) aspects of repair of the soft tissue of the lower extremities in patients with diabetes mellitus were compared with those of standard treatment. Thirty-one patients with diabetic foot ulcers were included in the study from the moment of debridement until the plastic closure of the wound. During the perioperative period, 13 patients received NPWT (-90 to -120 mmHg) and 18 patients received standard therapy. Results. A reduction of the wound area (26.6%?17.2%) and the depth of the defects (40.5%?25.6%) were achieved with negative pressure therapy compared with baseline data. In the control group, the corresponding values were 25.3%?19.4% and 21.8%?21.6%, respectively. The results of transcutaneous oximetry showed a greater increase in the level of local hemodynamics in the study group (p
Первичный гиперпаратиреоз занимает третье место по распространенности среди эндокринных заболеваний после сахарного диабета и патологии щитовидной железы, его частота во взрослой популяции составляет в среднем 1-2%. Наиболее часто при первичном гиперпаратиреозе выявляется солитарная аденома около-щитовидной железы (ОЩЖ) -80-85% случаев, реже гиперплазия и множественное поражение (до 15%), рак ОЩЖ встречается примерно в 1% наблюдений. Среди аденом ОЩЖ отдельно выделяют группу клинически агрессивных аденом, ассоциированных с более тяжелым течением заболевания, выраженной гиперкальциемией и неуточненным злокачественным потенциалом. В настоящее время нет четких критериев, которые помогли бы на дооперационном этапе дифференцировать атипическую аденому от карциномы и от "классической" аденомы. На сегодняшний день не существует критериев, позволивших бы на дооперационном этапе отличить атипическую аденому от типичной или рака ОЩЖ. Мы представляем случай 61-летней пациентки с клинически агрессивным течением первичного гиперпаратиреоза и выраженными метаболическими нарушениями структуры костной ткани очагового и диффузно-очагового характера вследствие атипической аденомы ОЩЖ. Ключевые слова: первичный гиперпаратиреоз, атипическая аденома околощитовидной железы, фиброзно-кистозный остеит, рак околощитовидных желез, остеосцинтиграфия, радионуклидная диаг ностика.Primary hyperparathyroidism is common clinical endocrine disorder with a prevalence between 1-2%. Solitary parathyroid adenomas account from 80 to 85% of cases of PHPT, hyperplasia and multiple adenomas is up to 15%, parathyroid carcinoma is a very rare cause of PHPT, accounting for about a 1% of cases. Clinically aggressive and atypical adenomas should be separately noted because of severe clinical course and life-threatening hypercalcemia, high morbidity and mortality, unknown malignant potential. No definite criteria are considered to be present to distinguish preoperatively atypical adenoma from parathyroid typical adenoma or carcinoma. The clinical course of the disease remains the only tool that allows to suspect an aggressive tumor on the preoperative stage. We present the clinical case of a 61-year-old female patient with a clinically "aggressive" course of PHPT and severe metabolic disturbances of bone tissue due to the atypical adenoma of the parathyroid gland.Key words: primary hyperparathyroidism, atypical parathyroid adenoma, cancer of the parathyroid glands, osteitis fibrosa cystica, osteoscintigraphy, radionuclide diagnostics.The article can used under the CC BY-NC-ND 4.0 license. Статья может быть использована на условиях международной лицензии CC BY-NC-ND 4.0.
Parathyroid glands (PG) are endocrine glands, which are the most important humoral regulators of calcium and phosphorus metabolism in the body. They were first described by an Englishman Richard Owen in 1849. Most of patients have four PG – upper and lower. In 13% of cases there are more than four PG. The glands arise as diverticula from the endoderm of the third and fourth branchial pouches between the fifth and twelfth week of gestation. The IV branchial pouch forms the upper gland, and III pouch forms the inferior gland. The parathyroid hormone production has been demonstrated as early as 83/7 weeks gestational age. The formation, migration, differentiation and functioning of the PGs are determined by a number of genes and changes in them could lead to disfunction in these processes. The ectopic of PG is possible when migration violation (up to 22% of cases). The most common location of the ectopic PG is parenchyma of the thymus and thyroid gland. Each PG is richly vascularized and it is surrounded by a thin connective tissue. In adults, there are two types of parenchymal cells: the chief cells (active and inactive forms) and the oxyphil cells. During the life, the ratio of types of parenchymal cells and their activity have been changing, as well as the characteristics of the stroma.
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