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1.
Probl Endokrinol (Mosk) ; 70(1): 30-37, 2024 Feb 28.
Article in Russian | MEDLINE | ID: mdl-38433539

ABSTRACT

Primary glucocorticoid resistance (OMIM 615962) is a rare endocrinologic condition caused by resistance of the human glucocorticoid receptor (hGR) to glucocorticoids (GR) and characterised by general or partial insensitivity of target organs to GK. Compensatory activation of hypothalamic-pituitary-andrenal axis results in development of a various pathological conditions caused by overstimulation of adrenal glands. Clinical spectrum may range from asymptomatic cases to severe cases of mineralocorticoid and/or androgen excess. At present time, primary generalized glucocorticoid resistance has been exclusively associated with defects in the NR3C1 gene. Here, we present a case report of an adolescent patient with clinical presentation of glucocorticoid resistance confirmed by detailed endocrinologic evaluation but no confirmed mutations in the NR3C1 gene.


Subject(s)
Metabolism, Inborn Errors , Receptors, Glucocorticoid , Receptors, Glucocorticoid/deficiency , Adolescent , Humans , Receptors, Glucocorticoid/genetics , Glucocorticoids/therapeutic use , Adrenal Glands , Metabolism, Inborn Errors/genetics , Rare Diseases
2.
Ter Arkh ; 93(10): 1155-1163, 2021 Oct 15.
Article in Russian | MEDLINE | ID: mdl-36286816

ABSTRACT

AIM: To compare advanced glycation end-products (AGE, RAGE) and 3-nitrotyrosine (3-HT) in patients with DM 1 after successful simultaneous pancreas-kidney transplantation (SPK) and kidney transplantation alone (KTA). To assess relationship between levels of AGE, RAGE, 3-HT and renal transplant (RT) function, carbohydrate and mineral metabolism. MATERIALS AND METHODS: The study included 58 patients who received kidney transplantation in end-stage renal disease (ESRD). 36 patients received SPK. There were performed routine laboratory, examination of AGE, RAGE, 3-NT, parathyroid hormone (PTH), 25(OH)vitamin D, calcium, phosphorus, FGF23, osteoprotegerin (OPG), and fetuin-A levels. RESULTS: All patients after SPK reached normoglycemia (HbA1c 5.7 [5.3; 6.1] %; C-peptide 3.24 [2.29; 4.40] ng/ml) with the achievement of significant difference vs patients after KTA. Arterial hypertension (AH) was more frequent in recipients of SPK before transplantation than after (p=0.008). AH also persisted in greater number of cases in patients after KTA than after SPK. Patients after SPK had higher AGE (р=0.0003) and lower RAGE (р=0.000003) levels. OPG in patients after SPK was significantly higher (р=0.04). The correlation analysis revealed significant positive correlation between 3-HT and OPG (p0.05; r=0.30), RAGE and eGFR (r=-0.52), HbA1c (r=0.48), duration of AH (r=0.34), AGE with HbA1c (r=0.51). CONCLUSION: The results of the "metabolic memory" markers analysis may indicate their contribution to the persistence of the metabolic consequences of CKD and DM 1 after achievement of normoglycemia and renal function restoration and their possible participation in development of recurrent nephropathy, vascular calcification, and bone disorders.


Subject(s)
Diabetes Mellitus, Type 1 , Kidney Transplantation , Pancreas Transplantation , Humans , Pancreas Transplantation/adverse effects , Pancreas Transplantation/methods , Diabetes Mellitus, Type 1/complications , Diabetes Mellitus, Type 1/surgery , Diabetes Mellitus, Type 1/diagnosis , Kidney Transplantation/adverse effects , Kidney Transplantation/methods , Glycation End Products, Advanced , Osteoprotegerin , Glycated Hemoglobin , C-Peptide , Calcium , alpha-2-HS-Glycoprotein , Oxidative Stress , Parathyroid Hormone , Vitamin D , Phosphorus , Minerals , Pancreas , Graft Survival
3.
Probl Endokrinol (Mosk) ; 66(6): 18-30, 2020 Dec 20.
Article in Russian | MEDLINE | ID: mdl-33481364

ABSTRACT

Kidney transplantation is unique method of renal replacement therapy, allowing to improve quality and duration of life for patients with diabetes mellitus type 1 (DM1) and end-stage renal disease (ESRD) on dialysis therapy. Recently using of innovation technologies for diabetes management and modern immunosuppression enable achieving better results of posttransplant rehabilitation for patients with DM1, especially if kidney transplantation is performed early after initiation of dialysis. Detailed examination of patient with DM1 before potential kidney transplantation is very important to reduce of early and late postoperative complications. Kidney transplantation preparation includes effective glycemic control, adequate dialysis therapy, treatment of diabetes and ESRD complications and concomitant conditions, especially cardiovascular diseases, accounting for kidney transplantation perspective. Furthermore, diagnostics and treatment of any infectious process, timely vaccination, cancer screening are basic approaches of kidney transplantation preparation program, providing the best survival rate of kidney graft and patient.


Subject(s)
Diabetes Mellitus, Type 1 , Kidney Failure, Chronic , Kidney Transplantation , Diabetes Mellitus, Type 1/complications , Humans , Kidney Failure, Chronic/surgery , Renal Dialysis , Renal Replacement Therapy
4.
Ter Arkh ; 90(10): 4-23, 2018 Nov 22.
Article in English | MEDLINE | ID: mdl-30701789

ABSTRACT

Since the middle of the twentieth century, there has been a significant change in methods of the diagnosis and treatment of thyroid diseases with thyrotoxicosis syndrome. Previously doctors did not have trouble just with diagnosing diseases that occur with a typical clinical presentation (the Merzeburg triad, a multinodal goiter with fibrillation) because of no possible to determine thyroid hormones. Then in the early 70s years the appearance of immunological methods for estimating hormones in the blood has led to significant changes in our understanding of the variants of thyroid pathology with thyrotoxicosis (TT). Today, the diagnosis of the fact of thyrotoxicosis as a whole is not difficult (except for the confusion of preanalytical errors), but differential diagnosis within the declared syndrome remains extremely relevant to this day. Unfortunately, in the minds of many doctors, these diseases are sometimes perceived as a whole, and in the conditions of the "century of speeds", a modern doctor, extremely limited in time, often unjustifiably prescribes thyreostatic therapy, treatment with radioactive iodine or even surgical intervention after detecting thyrotoxicosis. The old truth "remember that a patient with thyrotoxicosis is a person with a sick heart..." has not lost relevance today. It is very important for the practicing physician be able to navigate in the spectrum of pathologies manifested by the thyrotoxicosis pattern because of the influence of excess thyroid hormones on the cardiovascular system and the hemostasis system. Hereinafter we tried to show diagnostic aspects focusing on differences in pathologies with TT syndrome in a lot of thyroid diseases and even nonthyroid diseases.


Subject(s)
Goiter , Hyperthyroidism , Thyroid Diseases , Thyrotoxicosis , Diagnosis, Differential , Goiter/complications , Humans , Hyperthyroidism/complications , Thyroid Diseases/complications , Thyrotoxicosis/diagnosis , Thyrotoxicosis/therapy
5.
Ter Arkh ; 90(10): 99-108, 2018 Nov 22.
Article in English | MEDLINE | ID: mdl-30701804

ABSTRACT

The review addresses the questions of the literature devoted to the problem of the influence of bariatric surgery on the course of diabetic nephropathy in patients with diabetes mellitus type 2 after achieving a surgically induced remission. This approach was shown to have positive aspects, such as decrease in creatinine, decrease in albuminuria, an increase in GFR, normalization of glycemia and blood pressure, "incretin effect"'s influence on the kidneys. Descriptions of the currently expected pathogenetic mechanisms involved in achieving the observed improvement in microvascular complications of diabetes, namely diabetic kidney disease, are also described in details.


Subject(s)
Bariatric Surgery , Diabetes Mellitus, Type 2 , Diabetic Nephropathies , Blood Glucose , Humans , Incretins
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