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diabetes insipidus [keywords]
- Acute myeloid leukemia with diabetes insipidus and hypophyseal infiltration. [JOURNAL ARTICLE]
- Asia Pac J Clin Oncol 2014 Sep 12.
It has been reported that acute myeloid leukemia (AML) patients with t(3;3)(q21;q26) translocation and monosomy 7 abnormalities may present with diabetes insipidus (DI) without neurohypophysis changes on imaging. We report a second Australian AML case with central diabetes insipidus (CDI) that presented with radiological abnormalities but without the genetic changes as previously reported.
- Diabetes Insipidus: Celebrating a Century of Vasopressin Therapy. [JOURNAL ARTICLE]
- Endocrinology 2014 Sep 11.:en20141385.
Diabetes mellitus, widely known to the ancients for polyuria and glycosuria, budded off diabetes insipidus (DI) about 200 years ago, based on the glucose-free polyuria that characterized a subset of patients. In the late 19th century, clinicians identified the posterior pituitary as the site of pathology, and pharmacologists found multiple bioactivities there. Early in the 20th century, the amelioration of the polyuria with extracts of the posterior pituitary inaugurated a new era in therapy and advanced the hypothesis that DI was due to a hormone deficiency. Decades later, a subset of patients with polyuria unresponsive to therapy were recognized, leading to the distinction between central DI and nephrogenic DI, an early example of a hormone-resistant condition. Recognition that the posterior pituitary had 2 hormones was followed by du Vigneaud's Nobel Prize winning isolation, sequencing, and chemical synthesis of oxytocin and vasopressin. The pure hormones accelerated the development of bioassays and immunoassays that confirmed the hormone deficiency in vasopressin-sensitive DI and abundant levels of hormone in patients with the nephrogenic disorder. With both forms of the disease, acquired and inborn defects were recognized. Emerging concepts of receptors and of genetic analysis led to the recognition of patients with mutations in the genes for 1) arginine vasopressin (AVP), 2) the AVP receptor 2 (AVPR2), and 3) the aquaporin 2 water channel (AQP2). We recount here the multiple skeins of clinical and laboratory research that intersected frequently over the centuries since the first recognition of DI.
- Wolfram Syndrome in the Japanese Population; Molecular Analysis of WFS1 Gene and Characterization of Clinical Features. [Journal Article]
- PLoS One 2014; 9(9):e106906.
Wolfram syndrome (WFS) is a recessive neurologic and endocrinologic degenerative disorder, and is also known as DIDMOAD (Diabetes Insipidus, early-onset Diabetes Mellitus, progressive Optic Atrophy and Deafness) syndrome. Most affected individuals carry recessive mutations in the Wolfram syndrome 1 gene (WFS1). However, the phenotypic pleiomorphism, rarity and molecular complexity of this disease complicate our efforts to understand WFS. To address this limitation, we aimed to describe complications and to elucidate the contributions of WFS1 mutations to clinical manifestations in Japanese patients with WFS.The minimal ascertainment criterion for diagnosing WFS was having both early onset diabetes mellitus and bilateral optic atrophy. Genetic analysis for WFS1 was performed by direct sequencing.Sixty-seven patients were identified nationally for a prevalence of one per 710,000, with 33 patients (49%) having all 4 components of DIDMOAD. In 40 subjects who agreed to participate in this investigation from 30 unrelated families, the earliest manifestation was DM at a median age of 8.7 years, followed by OA at a median age of 15.8 years. However, either OA or DI was the first diagnosed feature in 6 subjects. In 10, features other than DM predated OA. Twenty-seven patients (67.5%) had a broad spectrum of recessive mutations in WFS1. Two patients had mutations in only one allele. Eleven patients (27.5%) had intact WFS1 alleles. Ages at onset of both DM and OA in patients with recessive WFS1 mutations were indistinguishable from those in patients without WFS1 mutations. In the patients with predicted complete loss-of-function mutations, ages at the onsets of both DM and OA were significantly earlier than those in patients with predicted partial-loss-of function mutations.This study emphasizes the clinical and genetic heterogeneity in patients with WFS. Genotype-phenotype correlations may exist in patients with WFS1 mutations, as demonstrated by the disease onset.
- From cerebral salt wasting to diabetes insipidus with adipsia: case report of a child with craniopharyngioma. [JOURNAL ARTICLE]
- J Pediatr Endocrinol Metab 2014 Sep 11.
Abstract Craniopharyngioma is associated with a wide and interesting variety of sodium states both by itself and following surgical resection. These are often challenging to diagnose, especially given their dynamic nature during the perioperative course. We present the case of a boy with craniopharyngioma who had hyponatremia due to cerebral salt wasting preoperatively, developed diabetes insipidus (DI) intraoperatively and proceeded to develop hypernatremia with adipsic DI. Conclusion: Cerebral salt wasting is a rare presenting feature of craniopharyngioma. Postoperative DI can be associated with thirst abnormalities including adipsia due to hypothalamic damage; careful monitoring and a high index of suspicion are required for its detection. Adipsic DI is a difficult condition to manage; hence a conservative surgical approach is suggested.
- The pituitary gland in patients with Langerhans cell histiocytosis: a clinical and radiological evaluation. [JOURNAL ARTICLE]
- Endocrine 2014 Sep 11.
Langerhans cell histiocytosis (LCH) is a rare disease in which the most common endocrine manifestation is diabetes insipidus (DI). Data on anterior pituitary function in patients with LCH are limited. Thus, the present study investigated anterior pituitary function in LCH patients with DI via the evaluation of clinical and radiological findings at disease onset and during follow-up. The present study retrospectively evaluated nine patients with LCH (five males and four females). All diagnoses of LCH were made following histological and/or immunophenotypic analyses of tissue biopsies, bronchoalveolar lavage, or cerebrospinal fluid (CSF). Basal and, if necessary, dynamic pituitary function tests were used to assess anterior pituitary function, and magnetic resonance imaging (MRI) scans were used to image the pituitary. The LCH treatment modality was based on organ involvement. The mean age at onset of DI was 27.6 years (range 15-60 years). One patient (11 %) exhibited single organ involvement, while eight patients (89 %) displayed multisystem organ involvement. On admittance, one patient had hypogonadotropic hypogonadism, one patient exhibited panhypopituitarism [hypogonadotropic hypogonadism, central hypothyroidism, hypocortisolism, and growth hormone (GH) deficiency], and four patients (44 %) displayed hyperprolactinemia. The MRI data revealed infundibular enlargement in seven patients (78 %), a thalamic mass in one patient (11 %), and the absence of the bright spot in all patients. A single patient (11 %) showed a mass in the pons that had a partially empty sella. The patients were treated with radiation therapy (RT), chemotherapy (CT), or a combination of both (RT + CT) and were followed up for a median of 91.8 months (range 2-318 months). Seven patients were assessed during the follow-up period, of whom four patients (57.1 %) developed anterior pituitary hormone deficiency, three (43 %) were diagnosed with GH deficiency, and one (14 %) exhibited gonadotropin deficiency. The gonadotropin deficiency in the patient, which was diagnosed on admittance, was resolved during the follow-up period. DI persisted in all patients, and the conditions of the seven patients who have remained on follow-up are stable. In the present study, patients with LCH exhibited altered function in the anterior pituitary as well as the posterior pituitary, which may be due to the natural course of the disease or the effects of treatment. The present findings indicate that anterior pituitary function should be assessed in LCH patients on admittance and during follow-up, especially in LCH patients with multisystem organ involvement.
- Activating Transcription Factor 6α Is Required for the Vasopressin Neuron System to Maintain Water Balance under Dehydration in Male Mice. [JOURNAL ARTICLE]
- Endocrinology 2014 Sep 9.:en20141522.
Activating transcription factor 6α (ATF6α) is a sensor of endoplasmic reticulum (ER) stress, and increases the expression of ER chaperones and molecules related to the ER-associated degradation of unfolded/misfolded proteins. In this study, we employed ATF6α knockout (ATF6α(-/-)) mice to clarify the role of ATF6α in the arginine vasopressin (AVP) neuron system. While urine volumes were not different between ATF6α(-/-) and wild-type (ATF6α(+/+)) mice with access to water ad libitum, they were increased in ATF6α(-/-) mice compared to ATF6α(+/+) mice under intermittent water deprivation (WD), and accompanied by less urine AVP in ATF6α(-/-) mice. The mRNA expression of immunoglobulin heavy chain binding protein, an ER chaperone, was significantly increased in the supraoptic nucleus in ATF6α(+/+) but not ATF6α(-/-) mice after WD. Electron microscopic analyses demonstrated that the ER lumen of AVP neurons was more dilated in ATF6α(-/-) mice than ATF6α(+/+) mice after WD. ATF6α(-/-) mice that were mated with mice possessing a mutation causing familial neurohypophysial diabetes insipidus (FNDI), which is characterized by progressive polyuria and AVP neuronal loss due to the accumulation of mutant AVP precursor in the ER, manifested increased urine volume under intermittent WD. The aggregate formation in the ER of AVP neurons was further impaired in FNDI/ATF6α(-/-) mice compared to FNDI mice, and AVP neuronal loss was accelerated in FNDI/ATF6α(-/-) mice under WD. These data suggest that ATF6α is required for the AVP neuron system to maintain water balance under dehydration.
- Gender-specific co-activation of arginine-vasopressin and the hypothalamic-pituitary-adrenal axis during stress. [JOURNAL ARTICLE]
- Clin Endocrinol (Oxf) 2014 Sep 8.
To study the interaction between copeptin and hypothalamic-pituitary-adrenal (HPA) activation in men and women during hypoglycaemic stress.A prospective study in 118 patients (mean age 47.7±13.6 yrs., n=52 women) undergoing insulin tolerance testing for suspected pituitary dysfunction.Serum copeptin was measured in serially collected blood samples and assessed in relation to ACTH, cortisol and other endocrine parameters.Symptomatic hypoglycaemia (mean glucose nadir, 1.6±0.5 mmol/l) resulted in a rapid significant increase of serum copeptin. Individuals with impaired pituitary function had lower stress-induced copeptin levels (median, 6.26 pmol/l) than patients with intact pituitary (8.46 pmol/l, P < 0.001). A weak overall correlation between stress-induced copeptin and cortisol levels was observed (rs = 0.31, P < 0.001). In female individuals, there was a positive correlation between stress-induced copeptin and ACTH (rs = 0.47, P < 0.001) or cortisol levels (rs = 0.42, P = 0.002), while in males no correlation to ACTH (rs = 0.03, P = 0.75) and poor correlation to cortisol levels (rs = 0.24, P = 0.045). was observed. Patients with central diabetes insipidus showed lowest baseline (2.20 pmol/l) and stimulated copeptin levels (3.68 pmol/l).The data from this study indicate that stress-induced release of AVP in women, but not in men, is linked to the co-activation of the hypothalamic-pituitary-adrenal system. This article is protected by copyright. All rights reserved.
- Immediate postoperative complications in transsphenoidal pituitary surgery: A prospective study. [Journal Article]
- Saudi J Anaesth 2014 Jul; 8(3):335-41.
Considering the important role of pituitary gland in regulating various endocrine axes and its unique anatomical location, various postoperative complications can be anticipated resulting from surgery on pituitary tumors. We examined and categorized the immediate postoperative complications according to various tumor pathologies.We carried out a prospective study in 152 consecutive patients and noted various postoperative complications during neurosurgical intensive care unit stay (within 48 hrs of hospital stay) in patients undergoing transsphenoidal removal of pituitary tumors.In our series, various groups showed different postoperative complications out of which, cerebrospinal fluid leak was the commonest followed by diabetes insipidus, postoperative nausea and vomiting, and hematoma at operation site.Various immediate postoperative complications can be anticipated in transsphenoidal pituitary surgery even though, it is considered to be relatively safe.
- [Erdheim-Chester disease]. [Editorial, English Abstract]
- Harefuah 2014 Jul; 153(7):389-91, 434, 433.
Erdheim-Chester disease is an orphan condition which involves the ongoing proliferation, migration and infiltration of the typical CD68(+), CD1a(-) histiocytes to various target foci. Consequently, both the infiltrating and fibrosing elements of the disease promote end organ damage and ultimately, failure. Presentation of the Erdheim-Chester disease typically involves longstanding diabetes insipidus in conjunction with intensifying bone pain that classically affects the femurs and tibiae. Alternatively, the disease may present with neurological deterioration of cerebellar nature. Thus, a high index of clinical suspicion is required when facing a patient with the combination of longstanding diabetes insipidus in conjunction with bone pain or cerebellar dysfunction. Typical symmetric, bilateral increased tracer uptake on a 99mTc bone scintigraphy invoLving the femurs and tibiae, is strongly suggestive of the Erdheim-Chester disease. interferon alpha is considered as the first line of treatment. Nevertheless, recent accumulated data suggests that this disease heavily relies on the Ras/Raf/MEK/ERK signal transduction pathway as inhibition of the V600E mutant BRAF by the small molecule vemurafenib among patients who are carriers of this mutation, yielded dramatic clinical responses.
- Full mouth rehabilitation in a medically compromised patient with fluorosis. [Journal Article]
- J Clin Diagn Res 2014 Jul; 8(7):ZD22-4.
Severely worn out dentition needs to be given definite attention as it not only affects aesthetics but can also cause psychological distress to the affected individual. It can cause chewing difficulty, temporomandibular joint problems, headaches, pain and facial collapse. Before any attempt to restore severely worn dentition, aetiology of excessive tooth wear should be established. Severe wear can result from chemical cause, mechanical cause or a combination of various causes. Dental fluorosis can also result in severe wear of teeth. Teeth sometimes become extremely porous and friable with a mottled appearance ranging from yellow to brown-black. There occurs loss of tooth substance and anatomic dental deformities resulting in un-aesthetic dentition requiring full mouth rehabilitation. Here a similar case of full mouth rehabilitation of severely worn dentition due to dental fluorosis in a 27-year-old patient is presented. This case report conjointly presents the uncommon association of diabetes insipidus with dental fluorosis. Diabetes insipidus through its characteristic symptom of polydipsia can result in intake of more than permitted dose of fluoride thus causing dental fluorosis. In literature only few cases have been reported of dental fluorosis in association of diabetes insipidus. Full mouth rehabilitation of the patient was successfully accomplished through well-planned systematic approach to simultaneously fulfill aesthetic, occlusal and functional parameters.