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Frontiers in Endocrinology 2023Copeptin is cleaved from the same precursor as arginine vasopressin and is released in equimolar amounts with arginine vasopressin from the posterior pituitary in... (Review)
Review
Copeptin is cleaved from the same precursor as arginine vasopressin and is released in equimolar amounts with arginine vasopressin from the posterior pituitary in response to the same stimuli. Its level of stability in the blood, quick and simple analysis, and ease of automation make it much easier to analyze than arginine vasopressin, thereby offering a suitable alternative to measuring arginine vasopressin in endocrine disorders. Research has demonstrated the suitability of copeptin in adults for the differentiation of arginine vasopressin resistance and arginine vasopressin deficiency from primary polydipsia, in addition to the early identification of arginine vasopressin deficiency following pituitary surgery; however, further research is still required in the Syndrome of Inappropriate Antidiuretic Hormone (SIADH) and the pediatric population.
Topics: Child; Adult; Humans; Diabetes Insipidus, Neurogenic; Glycopeptides; Arginine Vasopressin; Arginine
PubMed: 37859988
DOI: 10.3389/fendo.2023.1230045 -
Biomolecules Sep 2023Wolfram Syndrome (WFS) is a rare, autosomal, recessive neurogenetic disorder that affects many organ systems. It is characterised by diabetes insipidus, diabetes... (Review)
Review
Wolfram Syndrome (WFS) is a rare, autosomal, recessive neurogenetic disorder that affects many organ systems. It is characterised by diabetes insipidus, diabetes mellites, optic atrophy, and deafness and, therefore, is also known as DIDMOAD. Nearly 15,000-30,000 people are affected by WFS worldwide, and, on average, patients suffering from WFS die at 30 years of age, usually from central respiratory failure caused by massive brain atrophy. The more prevalent of the two kinds of WFS is WFS1, which is a monogenic disease and caused by the loss of the gene, whereas WFS2, which is more uncommon, is caused by mutations in the gene. Currently, there is no treatment for WFS1 to increase the life expectancy of patients, and the treatments available do not significantly improve their quality of life. Understanding the genetics and the molecular mechanisms of WFS1 is essential to finding a cure. The inability of conventional medications to treat WFS1 points to the need for innovative strategies that must address the fundamental cause: the deletion of the gene that leads to the profound ER stress and disturbances in proteostasis. An important approach here is to understand the mechanism of the cell degeneration after the deletion of the gene and to describe the differences in these mechanisms for the different tissues. The studies so far have indicated that remarkable clinical heterogeneity is caused by the variable vulnerability caused by mutations, and these differences cannot be attributed solely to the positions of mutations in the gene. The present review gives a broader overview of the results from genomic studies on the WFS1 mouse model.
Topics: Animals; Mice; Humans; Wolfram Syndrome; Quality of Life; Optic Atrophy; Mutation; Genomics
PubMed: 37759745
DOI: 10.3390/biom13091346 -
Orphanet Journal of Rare Diseases Nov 2023Wolfram syndrome (WS) is a rare autosomal recessive multisystem neurodegenerative disease characterized by non-autoimmune insulin-dependent diabetes mellitus, optic...
BACKGROUND
Wolfram syndrome (WS) is a rare autosomal recessive multisystem neurodegenerative disease characterized by non-autoimmune insulin-dependent diabetes mellitus, optic atrophy, sensorineural deafness, and diabetes as the main features. Owing to clinical phenotypic heterogeneity, the misdiagnosis rate is high. However, early accurate diagnosis and comprehensive management are key to improving quality of life and prolonging life.
RESULTS
Eleven patients from seven WS pedigrees with 10 mutation sites (c.1314_1317delCTTT, c.C529T, c.C529A, c.G2105A, c.C1885T, c.1859_1860del, c.G2020A, c.C529A, c.G2105A, and c.G1393C) in the WFS1 gene were included. We conducted further expert department analysis to clarify the diagnosis and analyze the correlation between genes and phenotypes.
CONCLUSIONS
The genotypes of these patients were closely associated with their phenotypes. The clinical data of the patients were analyzed to provide a basis for the diagnosis and clinical management of the disease.
Topics: Humans; Wolfram Syndrome; Neurodegenerative Diseases; Quality of Life; Mutation; Optic Atrophy; Diabetes Mellitus, Type 2
PubMed: 37974252
DOI: 10.1186/s13023-023-02938-5 -
Reviews in Endocrine & Metabolic... Jun 2024Hypopituitarism is a rare endocrine disorder characterized by insufficient hormone secretion from the pituitary gland. This condition leads to deficient production of... (Review)
Review
Hypopituitarism is a rare endocrine disorder characterized by insufficient hormone secretion from the pituitary gland. This condition leads to deficient production of one or more pituitary hormones, including growth hormone (GH), thyroid-stimulating hormone (TSH), luteinizing hormone (LH), follicle-stimulating hormone (FSH), adrenocorticotropic hormone (ACTH), and antidiuretic hormone (ADH), also called arginine vasopressin (AVP). Symptoms vary widely and are often not, late recognized.Diagnosis typically involves a thorough clinical evaluation, hormone level assessments, and neuroimaging studies to identify underlying causes. Treatment aims to replace deficient hormones and address the underlying cause and related complications when possible. In this special issue we address diagnosis, comorbidities, and management of hypopituitarism. We hope that it will help healthcare professionals to manage their patients.
Topics: Humans; Hypopituitarism
PubMed: 38801648
DOI: 10.1007/s11154-024-09889-7 -
Clinical Pediatrics Oct 2023Central diabetes insipidus (CDI) is a disorder in the pediatric population resulting from antidiuretic hormone deficiency. The excessive production of dilute urine...
Central diabetes insipidus (CDI) is a disorder in the pediatric population resulting from antidiuretic hormone deficiency. The excessive production of dilute urine characterizes it and manifests with polyuria, nocturia, and polydipsia. The diagnostics of CDI is often challenging, especially concerning the underlying condition of the disease. This article highlights the diverse clinical presentation of children with CDI and diagnostic difficulties among patients with polyuria and polydipsia. The article also reviews the etiology, symptoms, diagnostic workup, and management of CDI. We present 4 pediatric patients (aged 3-13.5 years) diagnosed with CDI of different etiology: 1 due to septo-optic dysplasia/optic nerve hypoplasia and 3 due to acquired processes such as Langerhans cell histiocytosis and germ cell tumor in 2 patients. Central diabetes insipidus was the first manifestation of a tumor or granuloma in all presented patients with acquired pathology. The patients sometimes need long-term follow-up to establish the proper final diagnosis.
PubMed: 37798950
DOI: 10.1177/00099228231202607 -
The New England Journal of Medicine May 2024
Topics: Female; Humans; Male; Diabetes Insipidus, Nephrogenic; Hunger; Thirst; Child; Hypothalamus; Animals; Mice; Brain; Drinking Behavior; Feeding Behavior; Attention Deficit Disorder with Hyperactivity; Growth Disorders
PubMed: 38810192
DOI: 10.1056/NEJMcibr2400066 -
Mechanisms of hyponatremia and diabetes insipidus after acute spinal cord injury: a critical review.Chinese Neurosurgical Journal Nov 2023The incidence of hyponatremia after spinal cord injury was reported to be between 25 and 80%. Hyponatremia can lead to a variety of clinical symptoms, from mild to... (Review)
Review
The incidence of hyponatremia after spinal cord injury was reported to be between 25 and 80%. Hyponatremia can lead to a variety of clinical symptoms, from mild to severe and even life-threatening. Hyponatremia is often associated with diabetes insipidus, which refers to insufficient arginine vasopressin (AVP) secretion or defective renal response to AVP, with clinical manifestations of syndromes such as hypoosmolality, polydipsia, and polydipsia. Recent mechanistic studies on hyponatremia and diabetes insipidus after acute spinal cord injury have been performed in isolation, without integrating the above two symptoms into different pathological manifestations that occur in the same injury state and without considering the acute spinal cord injury patient's condition as a whole. The therapeutic principles of CSWS and SIADH are in opposition to one another. It is not easy to identify the mechanism of hyponatremia in clinical practice, which makes selecting the treatment difficult. According to the existing theories, treatments for hyponatremia and diabetes insipidus together are contraindicated, whether the mechanism of hyponatremia is thought to be CSWS or SIADH. In this paper, we review the mechanism of these two pathological manifestations and suggest that our current understanding of the mechanisms of hyponatremia and diabetes insipidus after high acute cervical SCI is insufficient, and it is likely that there are other undetected pathogenetic mechanisms.
PubMed: 37968769
DOI: 10.1186/s41016-023-00347-y -
The New England Journal of Medicine Nov 2023
Topics: Humans; Arginine; Arginine Vasopressin; Diabetes Insipidus, Neurogenic
PubMed: 37966292
DOI: 10.1056/NEJMe2311293 -
Endocrine Practice : Official Journal... Aug 2023Accurate diagnosis of diabetes insipidus (DI) is of significant importance for correct management. We aimed to evaluate the diagnostic accuracy of copeptin level... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
Accurate diagnosis of diabetes insipidus (DI) is of significant importance for correct management. We aimed to evaluate the diagnostic accuracy of copeptin level measurements in the differential diagnosis between DI and primary polydipsia (PP).
METHODS
A literature search of electronic databases from January 1, 2005, to July 13, 2022, was performed. Primary studies that evaluated the diagnostic accuracy of copeptin concentration in patients with DI and PP were considered eligible. Two reviewers independently screened relevant articles and extracted data. The Quality Assessment of Diagnostic Accuracy Studies 2 tool was used to assess the quality of the included studies. The hierarchical summary receiver operating characteristic model and bivariate method were used.
RESULTS
Seven studies including 422 patients with polydipsia-polyuria syndrome were included; of the 422 patients, 189 (44.79%) presented with arginine vasopressin deficiency (AVP-D, cranial DI) and 212 (50.24%) with PP. The summary estimates of the diagnostic performance of stimulated copeptin to differentiate between PP and AVP-D were 0.93 (95% CI, 0.89-0.97) for sensitivity and 0.96 (95% CI, 0.88-1.00) for specificity. Baseline copeptin level showed high performance in identifying AVP resistance (nephrogenic DI), with a pooled sensitivity of 1.00 (95% CI, 0.82-1.00) and specificity of 1.00 (95% CI, 0.98-1.00); however, it showed little value in the differentiation between PP and AVP-D.
CONCLUSION
Copeptin level measurement is a useful tool for the differential diagnosis of patients with DI and PP. Stimulation before copeptin measurement is necessary in the diagnosis of AVP-D.
Topics: Humans; Diagnosis, Differential; Diabetes Insipidus; Glycopeptides; Diabetes Insipidus, Neurogenic; Diabetes Mellitus
PubMed: 37225043
DOI: 10.1016/j.eprac.2023.05.006 -
Radiologie (Heidelberg, Germany) Aug 2023Intracranial germ cell tumors are rare central nervous system (CNS) diseases in Europa and America. Because of their low frequency and lack of typical imaging features,... (Review)
Review
CLINICAL/METHODICAL ISSUE
Intracranial germ cell tumors are rare central nervous system (CNS) diseases in Europa and America. Because of their low frequency and lack of typical imaging features, they represent a difficult diagnosis for any radiologist.
STANDARD RADIOLOGICAL METHODS
Magnetic resonance imaging (MRI) is a sensible diagnostic tool for the initial diagnosis of germ cell tumors, although it has limitations.
METHODOLOGICAL INNOVATIONS
So far, no typical morphologic pattern as a red flag for germ cell tumors has been identified. Correlation with clinical symptoms and laboratory results is mandatory.
PERFORMANCE
In certain cases, combining the location of the tumor and clinical findings may allow a diagnosis to be made even without histologic confirmation.
PRACTICAL RECOMMENDATIONS
In addition to imaging, the radiologist needs the age, background, and laboratory findings to be able to make an accurate diagnosis.
Topics: Humans; Neoplasms, Germ Cell and Embryonal; Magnetic Resonance Imaging
PubMed: 37405483
DOI: 10.1007/s00117-023-01172-1