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diabetes insipidus [keywords]
- Extended endoscopic endonasal approach for suprasellar Rathke's cleft cysts. [JOURNAL ARTICLE]
- J Clin Neurosci 2013 Dec 2.
Purely suprasellar Rathke's cleft cysts (RCC) treated with a microscopic endonasal approach have increased operative morbidity and poorer outcomes compared to purely sellar RCC. We sought to determine if the extended endoscopic endonasal approach improved outcomes for suprasellar RCC. We retrospectively reviewed RCC patients at our institution over a 10year period comparing outcomes of purely sellar RCC treated microsurgically (n=68), purely suprasellar RCC treated microsurgically (n=22), and purely suprasellar RCC treated endoscopically (n=9). Suprasellar RCC treated endoscopically were similar in size to those treated microscopically (0.9 versus 1.1cm; p=0.4). Complete cyst drainage occurred in 78% of suprasellar RCC approached endoscopically versus 25% approached microsurgically (p=0.02), approaching the 84% complete drainage rate seen with sellar microsurgically approached RCC. Visual normalization occurred in 67% of suprasellar RCC patients treated endoscopically versus 29% treated microsurgically (p=0.5). Headache improved in 71% of suprasellar RCC treated endoscopically, more than the 33% of suprasellar RCC treated microsurgically and the 53% of sellar RCC treated microsurgically (p=0.4). Diabetes insipidus (all temporary) occurred in 22% of patients with suprasellar RCC treated endoscopically, slightly greater than the 14% in suprasellar microsurgical patients and 9% in sellar RCC treated microsurgically (p>0.05). Cerebrospinal fluid (CSF) leak did not occur in any of the suprasellar RCC treated endoscopically, while 14% treated microsurgically experienced a CSF leak (p>0.05). Suprasellar RCC are neurosurgically challenging due to their proximity to the optic chiasm and infundibulum. Compared to microsurgery, endoscopy improves rate of complete removal and visual outcomes.
- Tolvaptan as a Tool in Renal Physiology. [JOURNAL ARTICLE]
- Am J Physiol Renal Physiol 2013 Dec 4.
For decades, the Brattleboro rat has been a useful model in kidney physiology. These animals manifest central diabetes insipidus (lack of circulating vasopressin) due to a mutation in the vasopressin-neurophysin gene. V2-receptor-mediated vasopressin actions in kidney can be assessed in these animals by infusing the V2-selective vasopressin analog 1-desamino-8-D-arginine vasopressin (dDAVP). However, the major commercial supplier in the U.S. has ceased production, creating a need for another reliable experimental model of V2-receptor-mediated vasopressin action in rodents. We designed an in vivo protocol to investigate vasopressin responses in rat kidney using osmotic minipumps loaded with tolvaptan, a nonpeptide competitive inhibitor of the vasopressin V2 receptor. Tolvaptan-infused rats had a mean urinary osmolality <300 mosm/kg H20 versus >2000 mosm/kg H20 in vehicle-infused rats. The tolvaptan infusion produced large decreases in the renal abundance of aquaporin-2 (AQP2), aquaporin-3 (AQP3), the beta subunit of the epithelial sodium channel (β-ENaC) and γ-ENaC that were comparable to the differences seen in vehicle-infused versus dDAVP-infused Brattleboro rats. Thus, we conclude that tolvaptan-infusion in rats provides an additional model (besides dDAVP-infusion in the Brattleboro rat) for the assessment of V2-receptor-mediated vasopressin actions in the kidney. We also provide ancillary in vitro data in rat inner-medullary-collecting-duct suspensions showing that tolvaptan can block vasopressin's effects on phosphorylation of the water channel aquaporin-2 in vitro. Specifically, tolvaptan almost completely inhibited the ability of vasopressin to increase aquaporin-2 phosphorylation at Ser256, Ser264, and Ser269, while strongly inhibiting a vasopressin-induced decrease in aquaporin-2 phosphorylation at Ser261.
- Erdheim-Chester disease and pituitary involvement: a unique case and the literature. [JOURNAL ARTICLE]
- Endocr J 2013 Dec 3.
An early thirties man diagnosed with Erdheim-Chester disease (ECD) was simultaneously disclosed to have hypogonadotropic hypogonadism, central adrenal insufficiency, and GH deficiency in addition to central diabetes insipidus (CDI). Pituitary magnetic resonance imaging (MRI) showed swelling in the stalk, enlargement of the anterior lobe with delayed enhancement, and loss of high intensity of the posterior lobe on T1-weighted images, suggesting of pituitary involvement of ECD. Three months after starting treatment with interferon α and zoledronic acid, polyuria and polydipsia were ameliorated without DDAVP, accompanied with improvement of MRI. Simultaneously technetium-99m bone scintigraphy showed improvement, accompanied with a relief of bone pain and high fever. In contrast, he developed secondary hypothyroidism with slight enlargement of anterior pituitary gland without relapse of CDI, suggesting of different responses to treatment with interferon α between anterior pituitary lobe and posterior one. So far he continues to be replaced with deficient hormone replacement therapy. As for bone pain, it remains to be controlled with the decreased levels of bone resorption marker with decreased abnormal uptake in bone scintigraphy although zoledronic acid was discontinued for osteonecrosis of the jaw. For four years, he has not showed new involvement at other organs besides bones and the pituitary. While CDI is known to be very common in ECD, improvement of CDI has been reported in a few cases. Other endocrine manifestations, especially with detailed endocrine status, have been also reported in limited cases. Thus we report this case and review the literature.
- Desmopressin in the treatment of nocturia: clinical evidence and experience. [REVIEW]
- Ther Adv Urol 2013 Dec; 5(6):310-317.
Nocturia is a common and bothersome condition experienced by both men and women. Studies have suggested that nocturia contributes a level of morbidity to those who suffer from the condition, both young and old. Desmopressin has historically been utilized to treat conditions such as central diabetes insipidus, certain bleeding disorders and primary nocturnal enuresis. Recently, interest has increased as to the use of desmopressin (a vasopressin analog) in the treatment of adult nocturia, for whom nocturnal polyuria is prevalent. While desmopressin has been traditionally administered in tablet and bioequivalent high dose melt formulations, newer low-dose orally disintegrating sublingual desmopressin has been recently studied to determine safe and efficacious dosing strategies. In this review, nocturia and its associated morbidities are discussed, followed by a contemporary literature review regarding the safety and efficacy of desmopressin for its treatment.
- Diabetes insipidus. [Journal Article]
- Ann Endocrinol (Paris) 2013 Dec; 74(5-6):496-507.
Diabetes insipidus (DI) is characterized by hypotonic polyuria greater than 3 liters/24hours in adults and persisting even during water deprivation. It is mostly due to a defect in arginin-vasopressin (AVP) synthesis (central DI); other causes are: AVP resistance (nephrogenic DI), abnormal thirst regulation (primary polydipsia) or early destruction of AVP by placental enzymes (gestational DI). A thorough medical history is warranted to investigate nocturnal persistence of polyuria (night waking being a good sign of its organic nature) to specify the onset and duration of the trouble, the medication use and the potential hereditary nature of the disorder. The next step is based on weight and blood pressure measurements and especially the quantification of beverages and diuresis over a 24-hour cycle. Assessment of signs of dehydration, bladder distention, pituitary hormone hyper- or hyposecretion, tumor chiasmatic syndrome, granulomatosis and cancer is required. The diagnosis is based on biological assessment, pituitary magnetic resonance imaging (MRI) and results of a desmopressin test. In severe forms of DI, urine osmolality remains below 250 mOsmol/kg and serum sodium greater than 145mmol/L. In partial forms of DI (urine osmolality between 250 and 750), the water deprivation test demonstrating the incapacity to obtain a maximal urine concentration is valuable, together with vasopressin or copeptin measurement. The pituitary MRI is done to investigate the lack of spontaneous hyperintensity signal in the posterior pituitary, which marks the absence of AVP and supports the diagnosis of central DI rather than primary polydipsia (although not absolute); it can also recognize lesions of the pituitary gland or pituitary stalk. Acquired central DI of sudden onset should suggest a craniopharyngioma or germinoma if it occurs before the age of 30 years, and metastasis after the age of 50 years. Fifteen to 20% of head trauma lead to hypopituitarism, including DI in 2% of cases. Transient or permanent DI is present in 8-9% of endoscopic transphenoidal surgeries. Current advances in DI concern the etiological work-up, with in particular the identification of IgG4-related hypophysitis or many genetic abnormalities, opening the field of targeted therapies in the years to come.
- Acute myeloid leukemia presenting with panhypopituitarism or diabetes insipidus: a case series with molecular genetic analysis and review of the literature. [JOURNAL ARTICLE]
- Leuk Lymphoma 2013 Nov 29.
ABSTRACT Central diabetes insipidus (DI) is a rare finding in patients with acute myeloid leukemia (AML), usually occurring in patients with chromosome 3 or 7 abnormalities. We describe 4 patients with AML and concurrent DI and a fifth patient with AML and panhypopituitarism. Four of 5 patients had monosomy 7. Three patients had chromosome 3q21q26/EVI-1 gene rearrangements. The molecular genotype of patients with AML and DI is not known. Therefore, we performed gene sequencing of 30 genes commonly mutated in AML in 3 patients with available leukemia cell DNA. One patient had no identifiable mutations, and two had RUNX1 F158S mutations.
- [Nocturia - an often misjudged problem]. [English Abstract, Journal Article]
- Aktuelle Urol 2013 Nov; 44(6):465-76.
Nocturia - waking up during the night due to the urge to urinate and empty the bladder - is a serious problem for affected patients. In the past decades, nocturia has been primarily regarded as an irritative symptom of benign prostate hyperplasia (BPH). This symptom is however frequently not influenced by different BPH treatments. In the last couple of years one has come to the conclusion that the prostate is less involved and in part responsible for the symptoms since women are also frequently affected. For these reasons nocturia is looked at differently. It is a highly prevalent symptom which neither qualitatively nor quantitative differs between men and women. Many factors lead to nocturia. The following diseases are involved: coronary heart disease, diabetes mellitus or insipidus, lower urinary tract symptoms (LUTS), states of anxiety or insomnia as well as behavioural and environmental factors. Nocturia can be categorised in nocturnal polyuria (overproduction of nightly urine) or a diminished bladder capacity or a combination of both. These entities can be easily differentiated by arithmetic analysis, e.g., a 48-hour voiding diary. Only recently nocturia has been classified according to the aetiology and pathogenesis, making a differentiated treatment possible. However, even in the cases in which the underlying cause cannot be found behavioural changes can help. Nevertheless, pharmacological treatments are inevitable. Medical treatments include: desmopressin, anticholinergics and antimuscarinics, general-medical measures like support stockings, different time for the intake of diuretics or in specific cases the nasal CPAP artificial respiration (continuous positive airway pressure). In spite of the partly high effectiveness of these measures, treatment should be customised taking possible side effects in account.
- Exome Sequencing Finds a Novel PCSK1 Mutation in a Child With Generalized Malabsorptive Diarrhea and Diabetes Insipidus. [Journal Article]
- J Pediatr Gastroenterol Nutr 2013 Dec; 57(6):759-67.
Congenital diarrhea disorders are a group of genetically diverse and typically autosomal recessive disorders that have yet to be well characterized phenotypically or molecularly. Diagnostic assessments are generally limited to nutritional challenges and histologic evaluation, and many subjects eventually require a prolonged course of intravenous nutrition. Here we describe next-generation sequencing techniques to investigate a child with perplexing congenital malabsorptive diarrhea and other presumably unrelated clinical problems; this method provides an alternative approach to molecular diagnosis.We screened the diploid genome of an affected individual, using exome sequencing, for uncommon variants that have observed protein-coding consequences. We assessed the functional activity of the mutant protein, as well as its lack of expression using immunohistochemistry.Among several rare variants detected was a homozygous nonsense mutation in the catalytic domain of the proprotein convertase subtilisin/kexin type 1 gene. The mutation abolishes prohormone convertase 1/3 endoprotease activity as well as expression in the intestine. These primary genetic findings prompted a careful endocrine reevaluation of the child at 4.5 years of age, and multiple significant problems were subsequently identified consistent with the known phenotypic consequences of proprotein convertase subtilisin/kexin type 1 (PCSK1) gene mutations. Based on the molecular diagnosis, alternate medical and dietary management was implemented for diabetes insipidus, polyphagia, and micropenis.Whole-exome sequencing provides a powerful diagnostic tool to clinicians managing rare genetic disorders with multiple perplexing clinical manifestations.
- Central Diabetes Insipidus in Children and Young Adults: Etiological Diagnosis and Long - Term Outcome of Idiopathic Cases. [JOURNAL ARTICLE]
- J Clin Endocrinol Metab 2013 Nov 25.
Context:Central diabetes insipidus (CDI) is considered idiopathic in 20 to 50% of affected subjects.Objective:To determine whether systematic diagnostic work-up could allow achieving better etiologic diagnosis in children and adolescents presenting with polyuria and polydipsia.Design and Setting:This is a prospective study conducted at a tertiary referral center. Patients underwent clinical and endocrine evaluations every 6 months and neuroimaging every 6 months for 2 years, yearly for 3 years. Endocrine function and neuroimaging were also reassessed after adult height achievement.Participants:Eighty-five consecutive patients with CDI were enrolled at a median age of 7.5 years; those with idiopathic CDI were stratified based on pituitary stalk thickness.Main Outcome Measures:To establish the etiology of CDI; the time-lag between its onset and the specific diagnosis; the long-term impact on pituitary function and the overall long-term outcomes.Results:Twenty-four (28.2%) subjects received an etiologic diagnosis at presentation, 11 (13%) within 2.5 years (n=7 germinomas, n=4 Langherans-cell histiocytosis), 7 (8.2%) were lost to follow-up and 43 (50.6%) were considered idiopathic and followed till the median age of 17.3 years. Neuroimaging identified 40 out of 43 patients with self-limited inflammatory/autoimmune pituitary stalk thickness within the first 6 months, the severity of which was significantly correlated to pituitary dysfunction. The probability of more than 10-year-survival without anterior pituitary defect was related to the severity of pituitary stalk thickness and 53% showed permanent anterior pituitary defects. Three developed Langherans-cell histiocytosis and one Hodgkin's lymphoma after a median of 9 and 13 years, respectively.Conclusions:A diagnostic etiology was achieved in 96% of patients with CDI. Risk stratification based on the degree of pituitary stalk thickness is of prognostic value for long-term outcomes including permanent pituitary dysfunction. New guidance is provided for the management of these patients.
- Two forensic autopsy cases of death from unexpected lesions of the pituitary gland. [JOURNAL ARTICLE]
- Leg Med (Tokyo) 2013 Oct 19.
Herein, we report the findings of 2 forensic autopsy cases, in which unexpected pituitary lesions were the underlying cause of death. Case 1: A 56-year-old woman was found dead at her home during a cold winter spell. Macroscopic autopsy findings included a difference in the color of blood that filled her left and right cardiac chambers (deep red and dark red, respectively), collapse of both lungs, atrophy of the thyroid gland, and a large tumor arising from the sella turcica. Microscopic examination revealed a pituitary adenoma along with extensive bleeding. The cause of death was considered to be hypothermia, resulting from dysregulation of thermogenesis due to the pituitary adenoma. Case 2: An 86-year-old man with a history of pollakiuria was found dead in a bathtub, with his face and chest submerged in bathwater and his legs positioned outside the bathtub. The macroscopic findings of the autopsy included hyper-inflated lungs, fluid collection in the thoracic cavity, and aspiration of gastric contents in the bronchi. The atherosclerotic changes of the man's coronary and cerebral arteries were considered mild for his age. Microscopic examination showed a marked infiltration of lymphocytes and plasma cells in the posterior pituitary gland, as well as in the liver, pancreas, and submandibular gland. Considering the results of the autopsy and the findings from the investigation conducted at the death scene, we concluded that the man probably lost consciousness following a neurally mediated syncope, which was induced by diabetes insipidus (lymphocytic hypophysitis). After losing consciousness, the man likely fell in the filled bathtub and then drowned. These 2 cases highlight the need for a thorough post-mortem investigation, including a microscopic examination of the pituitary gland. In addition, forensic pathologists should carefully study the pituitary gland in cases where the cause of death is thought to be related to dysfunction of thermoregulation or osmoregulation.