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Diabetes Insipidus

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3. Diabetes insipidus

Diabetes insipidus Diabetes insipidus - Symptoms, diagnosis and treatment | BMJ Best Practice You'll need a subscription to access all of BMJ Best Practice Search  Diabetes insipidus Last reviewed: February 2019 Last updated: November 2017 Summary Disorder characterised by polydipsia, polyuria, increased thirst, and formation of hypotonic urine. Two types exist: central diabetes insipidus (DI), due to defective synthesis or release of arginine vasopressin (AVP) from the hypothalamo-pituitary (...) of both types. Both types of DI may be associated with hypernatraemia, and this may present as a medical emergency. Treatment goals are correction of any pre-existing water deficits and reduction in ongoing excessive urinary water losses. In central DI, desmopressin (DDAVP) is the treatment of choice. Nephrogenic DI is treated with an adequate fluid intake; salt restriction and diuretics may help reduce polyuria. Definition Diabetes insipidus (DI) is a metabolic disorder characterised by defective

2017 BMJ Best Practice

4. Double Trouble – Severe Hypernatremia Secondary to Central Diabetes Insipidus Complicated by Hypercalcemic Nephrogenic Diabetes Insipidus: A Case Report (PubMed)

Double Trouble – Severe Hypernatremia Secondary to Central Diabetes Insipidus Complicated by Hypercalcemic Nephrogenic Diabetes Insipidus: A Case Report BACKGROUND Patients with malignancies often have electrolyte abnormalities. We present a case of a patient with central diabetes insipidus secondary to metastatic pituitary invasion complicated by hypercalcemic nephrogenic diabetes insipidus. CASE REPORT We present a case of 40-year-old female with a history of stage IV breast cancer

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2018 The American journal of case reports

5. Arginine-stimulated copeptin measurements in the differential diagnosis of diabetes insipidus: a prospective diagnostic study. (PubMed)

Arginine-stimulated copeptin measurements in the differential diagnosis of diabetes insipidus: a prospective diagnostic study. Differential diagnosis of diabetes insipidus is challenging. The most reliable approach is hypertonic saline-stimulated copeptin measurements. However, this test is based on the induction of hypernatraemia and requires close monitoring of plasma sodium concentrations. Arginine-stimulated copeptin measurements might provide an alternative, simple, and safe test.In (...) this prospective diagnostic study, we recruited a development cohort from University Hospital Basel, Basel, Switzerland, and a validation cohort from five centres in Basel, Aarau, Luzern, Bern, and St Gallen, Switzerland, and the University Hospital Würzburg, Würzburg, Germany. For both cohorts, patients were eligible for inclusion if they were aged 18 years or older, were newly referred with polyuria (>50 mL/kg bodyweight per day) or had a known diagnosis of central diabetes insipidus or primary polydipsia

2019 Lancet

6. Predictors of Postoperative Diabetes Insipidus Following Endoscopic Resection of Pituitary Adenomas (PubMed)

Predictors of Postoperative Diabetes Insipidus Following Endoscopic Resection of Pituitary Adenomas The development of diabetes insipidus (DI) following transsphenoidal resection of pituitary adenomas has been associated with higher postsurgical morbidity and longer hospitalizations. Identifying these patients promptly and efficiently can lead to improved health care outcomes.We evaluated our institution's incidence of DI following pituitary adenoma resection and assessed for preoperative risk

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2018 Journal of the Endocrine Society

7. A Copeptin-Based Approach in the Diagnosis of Diabetes Insipidus. (PubMed)

A Copeptin-Based Approach in the Diagnosis of Diabetes Insipidus. The indirect water-deprivation test is the current reference standard for the diagnosis of diabetes insipidus. However, it is technically cumbersome to administer, and the results are often inaccurate. The current study compared the indirect water-deprivation test with direct detection of plasma copeptin, a precursor-derived surrogate of arginine vasopressin.From 2013 to 2017, we recruited 156 patients with hypotonic polyuria (...) of 144 patients underwent both tests. The final diagnosis was primary polydipsia in 82 patients (57%), central diabetes insipidus in 59 (41%), and nephrogenic diabetes insipidus in 3 (2%). Overall, among the 141 patients included in the analysis, the indirect water-deprivation test determined the correct diagnosis in 108 patients (diagnostic accuracy, 76.6%; 95% confidence interval [CI], 68.9 to 83.2), and the hypertonic saline infusion test (with a copeptin cutoff level of >4.9 pmol per liter

2018 NEJM

8. One too many diabetes: the combination of hyperglycaemic hyperosmolar state and central diabetes insipidus (PubMed)

One too many diabetes: the combination of hyperglycaemic hyperosmolar state and central diabetes insipidus The combination of hyperosmolar hyperglycaemic state and central diabetes insipidus is unusual and poses unique diagnostic and therapeutic challenges for clinicians. In a patient with diabetes mellitus presenting with polyuria and polydipsia, poor glycaemic control is usually the first aetiology that is considered, and achieving glycaemic control remains the first course of action. However (...) , severe hypernatraemia, hyperglycaemia and discordance between urine-specific gravity and urine osmolality suggest concurrent symptomatic diabetes insipidus. We report a rare case of concurrent manifestation of hyperosmolar hyperglycaemic state and central diabetes insipidus in a patient with a history of craniopharyngioma.In patients with diabetes mellitus presenting with polyuria and polydipsia, poor glycaemic control is usually the first aetiology to be considered.However, a history

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2018 Endocrinology, diabetes & metabolism case reports

9. Fatal Fournier's gangrene caused by Clostridium ramosum in a patient with central diabetes insipidus and insulin-dependent diabetes mellitus: a case report. (PubMed)

Fatal Fournier's gangrene caused by Clostridium ramosum in a patient with central diabetes insipidus and insulin-dependent diabetes mellitus: a case report. Clostridium ramosum is a generally non-pathogenic enteric anaerobe, and Fournier's gangrene is a rare necrotizing soft tissue infection with male predisposition affecting the perineum and the genital area. We report, to our knowledge, the first case of Fournier's gangrene caused by C. ramosum in a female patient with multiple underlying (...) conditions.A 44-year-old woman with a 6-year history of insulin-dependent diabetes mellitus after total pancreatectomy and an 11-year history of central diabetes insipidus developed a pain in the genital area after a month of urinary catheter use. The lower abdominal pain worsened gradually over 2 weeks, and the pain, general fatigue, and loss of appetite prompted the patient's hospital admission. As she had severe edema in her pelvic and bilateral femoral areas, ceftriaxone was started empirically after

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2018 BMC Infectious Diseases

10. Truncating RAX mutations: anophthalmia, hypopituitarism, diabetes insipidus and cleft palate in mice and men. (PubMed)

Truncating RAX mutations: anophthalmia, hypopituitarism, diabetes insipidus and cleft palate in mice and men. The transcription factor RAX is a paired-type homeoprotein that plays a critical role in eye and forebrain development of vertebrate species. RAX knockout mice have anophthalmia, cleft palate, abnormal hypothalamus, and display perinatal lethality. In humans, homozygous or compound heterozygous RAX mutations are reported to cause bilateral micro/anophthalmia without consistent (...) associated features.Congenital Hypopituitarism can be associated with various eye or craniofacial anomalies but the co-occurrence of Congenital Hypopituitarism, anophthalmia, cleft palate and diabetes insipidus is very rare.We report on a child with anophthalmia, congenital hypopituitarism, diabetes insipidus and bilateral cleft lip and palate who harbours a homozygous frameshift truncating mutation c.266delC (p.Pro89Argfs*114) in exon 1 of the RAX gene. The Rax knockout mice show loss of ventral

2019 Journal of Clinical Endocrinology and Metabolism

11. A novel AVPR2 missense mutation in an Asian family with inherited nephrogenic diabetes insipidus: A case report. (PubMed)

A novel AVPR2 missense mutation in an Asian family with inherited nephrogenic diabetes insipidus: A case report. X-linked nephrogenic diabetes insipidus (NDI) is a rare inherited disease, and is characterized by renal resistance to arginine vasopressin (AVP). Its diagnosis can be clinically challenging. The application of molecular genetic analysis can provide a rapid and definitive diagnosis.A 75-year-old woman presented with recurrent nausea and vomiting was admitted to the Department

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2019 Medicine

12. Central diabetes insipidus in a patient with NFKB2 mutation: Expanding the endocrine phenotype in DAVID syndrome. (PubMed)

Central diabetes insipidus in a patient with NFKB2 mutation: Expanding the endocrine phenotype in DAVID syndrome. DAVID syndrome is a recently described, rare disorder characterized by anterior pituitary hormone deficiencies and common variable immunodeficiency associated with NFKB2 mutations. Posterior pituitary hormone deficiencies have not been reported in patients with DAVID syndrome.We report a pediatric patient who initially presented with hypogammaglobulinemia and alopecia totalis, who (...) was identified to have a de novo NFKB2 mutation at one year of age. He developed central diabetes insipidus and central adrenal insufficiency at three and four years of age respectively. At seven years of age, he had not developed growth hormone or thyrotropin deficiencies. Whole exome sequencing ruled out known genetic causes of central diabetes insipidus, adrenal insufficiency and hypopituitarism.To our knowledge, this is the first report of central diabetes insipidus in a patient with DAVID syndrome due

2019 Journal of Clinical Endocrinology and Metabolism

13. RNA-Seq and protein mass spectrometry in microdissected kidney tubules reveal signaling processes initiating lithium-induced nephrogenic diabetes insipidus. (PubMed)

RNA-Seq and protein mass spectrometry in microdissected kidney tubules reveal signaling processes initiating lithium-induced nephrogenic diabetes insipidus. Lithium salts, used for treating bipolar disorder, frequently induce nephrogenic diabetes insipidus (NDI) thereby limiting therapeutic success. NDI is associated with loss of expression of the gene coding for the molecular water channel, aquaporin-2, in the renal collecting duct (CD). Here, we use systems biology methods in a well

2019 Kidney International

14. Partial nephrogenic diabetes insipidus associated with Castleman's disease. (PubMed)

Partial nephrogenic diabetes insipidus associated with Castleman's disease. Nephrogenic diabetes insipidus (DI) secondary to a urinary tract obstruction is a rare condition. Herein, we report a case of partial nephrogenic DI due to obstructive uropathy in a patient with Castleman's disease.A 78-year-old man underwent computed tomography (CT) at his local hospital because of persistent edema of the leg and polyuria (both lasting approximately 2 months); retroperitoneal fibrosis was detected

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2019 BMC Nephrology

15. Familial neurohypophyseal diabetes insipidus in 13 kindreds and 2 novel mutations in the vasopressin gene. (PubMed)

Familial neurohypophyseal diabetes insipidus in 13 kindreds and 2 novel mutations in the vasopressin gene. Autosomal dominant neurohypophyseal diabetes insipidus (adNDI) is caused by arginine vasopressin (AVP) deficiency resulting from mutations in the AVP-NPII gene encoding the AVP preprohormone.To describe the clinical and molecular features of Italian unrelated families with central diabetes insipidus.We analyzed AVP-NPII gene in 13 families in whom diabetes insipidus appeared

2019 European Journal of Endocrinology

16. Identification of a novel X-linked arginine-vasopressin receptor 2 mutation in nephrogenic diabetes insipidus: Case report and pedigree analysis. (PubMed)

Identification of a novel X-linked arginine-vasopressin receptor 2 mutation in nephrogenic diabetes insipidus: Case report and pedigree analysis. The clinical and genetic characteristics of nephrogenic diabetes insipidus (NDI) were described via assessing 2 cases of NDI patients from a Chinese family.Two patients who manifest polyuria and polydipsia were admitted to hospital for definite diagnosis.Water deprivation-vasopressin tests showed that the patients may possess renal-origin diabetes (...) insipidus. All the levels of thyroid-stimulating hormone, luteinizing hormone, follicle stimulation hormone, adrenocorticotropic hormone, prolactin, and growth hormone in both patients were normal. These results were certified that both patients possess a nephropathy-type diabetes insipidus. B-mode ultrasonography and urinalysis test demonstrated that the patient's diabetes insipidus is unlikely to originate from renal organic disease. Remarkably, by nucleotide sequencing, we found a novel mutation c

2019 Medicine

17. Diabetes Insipidus After Discontinuation of Vasopressin Infusion for Treatment of Shock. (PubMed)

Diabetes Insipidus After Discontinuation of Vasopressin Infusion for Treatment of Shock. Vasopressin has achieved common usage for the treatment of catecholamine-requiring and catecholamine-resistant shock. Diabetes insipidus is a syndrome characterized by excretion of abnormally large volumes of dilute urine. To date, very few reports of diabetes insipidus after discontinuation of vasopressin infusion have been published; the majority of previous reports describe neurosurgical patients (...) . The purpose of the present study was to investigate the occurrence rate of diabetes insipidus after discontinuation of vasopressin infusion among patients treated with vasopressin infusion for shock.Retrospective analysis of electronic health records of patients receiving continuous vasopressin infusion for the treatment of shock within a 5-year period (2012-2016).Medical, surgical, and cardiothoracic ICUs within one academic medical center.One-thousand eight-hundred ninety-six patients received

2019 Critical Care Medicine

18. Identification of <i>Acer2</i> as a First Susceptibility Gene for Lithium-Induced Nephrogenic Diabetes Insipidus in Mice. (PubMed)

Identification of Acer2 as a First Susceptibility Gene for Lithium-Induced Nephrogenic Diabetes Insipidus in Mice. Lithium, mainstay treatment for bipolar disorder, causes nephrogenic diabetes insipidus and hypercalcemia in about 20% and 10% of patients, respectively, and may lead to acidosis. These adverse effects develop in only a subset of patients treated with lithium, suggesting genetic factors play a role.To identify susceptibility genes for lithium-induced adverse effects, we (...) -induced diabetes insipidus development.We demonstrate that genome-wide association studies in mice can be used successfully to identify susceptibility genes for development of lithium-induced adverse effects. We identified Acer2 as a first susceptibility gene for lithium-induced diabetes insipidus in mice.Copyright © 2019 by the American Society of Nephrology.

2019 Journal of the American Society of Nephrology

19. Four Japanese Patients with Congenital Nephrogenic Diabetes Insipidus due to the AVPR2 Mutations (PubMed)

Four Japanese Patients with Congenital Nephrogenic Diabetes Insipidus due to the AVPR2 Mutations Almost 90% of nephrogenic diabetes insipidus (NDI) is caused by mutations in the arginine vasopressin receptor 2 gene (AVPR2) on the X chromosome. Herein, we reported clinical and biochemical parameters in four cases of three unrelated Japanese families and analyzed the status of the AVPR2. Two of the four patients had poor weight gain. However, in the male and female sibling cases, neither had poor

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2018 Case reports in pediatrics

20. A challenging coexistence of central diabetes insipidus and cerebral salt wasting syndrome: a case report (PubMed)

A challenging coexistence of central diabetes insipidus and cerebral salt wasting syndrome: a case report Combined central diabetes insipidus and cerebral salt wasting syndrome is a rare clinical finding. However, when this happens, mortality is high due to delayed diagnosis and/or inadequate treatment.A 42-year-old white man was referred to neurosurgery due to a non-functional pituitary macroadenoma. He underwent a partial resection of the tumor on July 2, 2015. On the day following surgery he (...) to treatment despite hypertonic saline replacement, hence desmopressin was suspended. The following day, urine spot analysis showed that natriuresis was 63 mEq/L with serum sodium 132 mEq/L. This was interpreted as a cerebral salt wasting syndrome and control was achieved with aggressive hypertonic saline replacements and fludrocortisone 0.1 mg/three times a day.We present a rare case of a patient with diabetes insipidus and cerebral salt wasting syndrome, who was successfully treated. Hyponatremia

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2018 Journal of medical case reports

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