Severe congenital nephrogenic diabetes insipidus in a compound heterozygote with a new large deletion of the AQP2 gene. A case report

ConclusionThis is the first case of a compound heterozygote patient with a missense mutation involving NM_000486.5:exon2:c.374C>T (p.Thr125Met) and a gross deletion of at least exons 2, 3, and partially 4 on theAQP2 to present with a severe NDI phenotype.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research

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Conclusions: Despite a paucity of published reports, diabetes insipidus after discontinuation of vasopressin infusion appears not to be a rare phenomenon, and is likely to be encountered by intensivists who regularly employ vasopressin for the treatment of vasoplegic shock. Previous reports consisted predominantly of neurosurgical patients. Our findings demonstrate the occurrence of diabetes insipidus after discontinuation of vasopressin infusion among patients with septic shock as well as vasoplegic shock after cardiothoracic intervention. The mechanism of diabetes insipidus after discontinuation of vasopressin infusion...
Source: Critical Care Medicine - Category: Emergency Medicine Tags: Online Clinical Investigations Source Type: research
AbstractPurposeSeveral institutions recently published their experiences with unplanned readmissions rates after transsphenoidal surgery for pituitary lesions. Readmission rates on a national level, however, have not been explored in depth. We investigated nationwide trends in this procedure and associated independent predictors, costs, and causes of 30-day readmission.MethodsThe Nationwide Readmissions Database was queried to identify patients 18 and older who underwent transsphenoidal surgery for pituitary lesion resection (2010 –2015). National trends and statistical variances were calculated based on weighted, cl...
Source: Pituitary - Category: Endocrinology Source Type: research
CONCLUSION: Patients with both neurosarcoidosis and CDI symptoms often do not improve, despite the fact that brain MRI findings often improve following treatment. More studies involving detailed pathological analyses and longer follow-up periods are necessary. PMID: 31681969 [PubMed - in process]
Source: Endokrynologia Polska - Category: Endocrinology Authors: Tags: Endokrynol Pol Source Type: research
Conclusion: Endoscopic transsphenoidal surgery reduces diabetes insipidus, septal perforation, and postoperative complications in treating those patients, who have pituitary adenoma. Endoscopic transsphenoidal surgery is worth suggesting as a productive as well as secure process for the treatment of pituitary adenoma.
Source: Journal of Craniofacial Surgery - Category: Surgery Tags: Clinical Studies Source Type: research
ConclusionsTranssphenoidal resection of ACTH producing pituitary adenoma is a safe and highly effective procedure for CD in experienced hands. Radiosurgery is more frequently used as treatment of residual and recurrent adenoma and persistent CD. Long-term endocrine and imaging follow-up is important as delayed recurrences and hypopituitarism are not infrequent.
Source: Journal of Neuro-Oncology - Category: Cancer & Oncology Source Type: research
uuml;neş S Abstract PURPOSE: We aimed to evaluate the frequency and neuroimaging features of Rathke's cleft cysts (RCCs) in children examined for endocrine-related diseases and to determine changes in the neuroimaging features of RCCs during the follow-up of children. We hypothesize that RCCs are being more commonly diagnosed in children with endocrine-related diseases and most of the RCCs show neither fluid intensity nor intensity due to high protein content on magnetic resonance imaging (MRI). METHODS: After approval by the local ethics committee, the medical records and contrast-enhanced pituitary MRI of ...
Source: Diagnostic and Interventional Radiology : The Turkish Society of Radiology - Category: Radiology Authors: Tags: Diagn Interv Radiol Source Type: research
Pituitary metastasis is a rare condition with a poor prognosis. Very few patients with pituitary metastasis are symptomatic. It is often associated with presence of co-existing metastases to other organs. Isol...
Source: BMC Endocrine Disorders - Category: Endocrinology Authors: Tags: Case report Source Type: research
CONCLUSIONS: In the majority of prolactinoma patients disease remission can be achieved through surgery, with low risks of long-term surgical complications, and disease remission is less often achieved with dopamine agonists. PMID: 31665485 [PubMed - as supplied by publisher]
Source: The Journal of Clinical Endocrinology and Metabolism - Category: Endocrinology Authors: Tags: J Clin Endocrinol Metab Source Type: research
AbstractArginine Vasopressin (AVP) and copeptin derive from the same precursor molecule. Due to the equimolar secretion, copeptin responds as rapidly as AVP to osmotic, hemodynamic and unspecific stress-related stimuli and both peptides show a very strong correlation. The physiological functions of AVP are homeostasis of fluid balance, vascular tonus and regulation of the endocrine stress response. In contrast, the exact function of copeptin remains unknown. Since copeptin, in contrast to AVP, can easily be measured with a sandwich immunoassay, its main function so far that it indirectly indicates the amount of AVP in the ...
Source: Reviews in Endocrine and Metabolic Disorders - Category: Endocrinology Source Type: research
Abstract Arginine Vasopressin (AVP) and copeptin derive from the same precursor molecule. Due to the equimolar secretion, copeptin responds as rapidly as AVP to osmotic, hemodynamic and unspecific stress-related stimuli and both peptides show a very strong correlation. The physiological functions of AVP are homeostasis of fluid balance, vascular tonus and regulation of the endocrine stress response. In contrast, the exact function of copeptin remains unknown. Since copeptin, in contrast to AVP, can easily be measured with a sandwich immunoassay, its main function so far that it indirectly indicates the amount of A...
Source: ENDOCR REV - Category: Endocrinology Authors: Tags: Rev Endocr Metab Disord Source Type: research
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