Idiopathic partial central diabetes insipidus.

Diabetes insipidus is a rare disorder characterized by the inability to concentrate urine, which results in hypotonic urine and increased urinary volume. It may occur because of antidiuretic hormone deficiency or resistance to its action in the renal tubules. When there is a deficiency in the synthesis of antidiuretic hormones, diabetes insipidus is called central; when there is resistance to its action in the renal tubules, it is said to be nephrogenic. We report a case of idiopathic partial central diabetes insipidus and highlight the management and treatment of the disease.

Changing the Name of Diabetes Insipidus: A Position Statement of the Working Group for Renaming Diabetes Insipidus.

Recent data show that patients with a diagnosis of diabetes insipidus (DI) are coming to harm. Here we give the rationale for a name change to arginine vasopressin deficiency and resistance for central and nephrogenic DI, respectively.

Changing the name of diabetes insipidus: a position statement of The Working Group for Renaming Diabetes Insipidus.

'What's in a name? That which we call a rose/By any other name would smell as sweet.' (Juliet, from Romeo and Juliet by William Shakespeare). Shakespeare's implication is that a name is nothing but a word and it therefore represents a convention with no intrinsic meaning. Whilst this may be relevant to romantic literature, disease names do have real meanings, and consequences, in medicine. Hence, there must be a very good rationale for changing the name of a disease that has a centuries-old historical context. A working group of representatives from national and international endocrinology, nephrology and pediatric societies now proposes changing the name of 'diabetes insipidus' to 'arginine vasopressin deficiency (AVP-D)' for central etiologies and 'arginine vasopressin resistance (AVP-R)' for nephrogenic etiologies. This editorial provides both the historical context and the rationale for this proposed name change.

Management of cranial diabetes insipidus: clinical outcomes and patient perception of care.

Objective: There is growing recognition of morbidity and mortality that can occur in patients with cranial diabetes insipidus (CDI) during hospitalisation, due to prescribing errors and dysnatraemia, often related to confusion between CDI and diabetes mellitus among non-specialists. We aimed to investigate this. Methods: Data for each hospitalisation in patients with CDI attending Oxford University Hospital (OUH) were collected retrospectively. The same cohort were invited to complete a questionnaire by telephone. Results: One hundred and nine patients were included, median age was 42 (range: 6-80) years. Route of desmopressin was tablet, melt and nasal spray in 74%, 7% and 17% of patients, respectively, while two patients used a combination of tablet and nasal spray. There were 85 admissions to OUH by 38 patients between 2012 and 2021. Daily measurement of serum sodium was performed in 39% of admissions; hyponatraemia and hypernatraemia occurred in 44 and 15% of admissions, respectively. Endocrine consultation was sought in 63% of admissions post-2018. Forty-five of 78 patients (58%) self-reported ≥1 admission to any hospital since diagnosis. Of these, 53% felt their medical team did not have a good understanding of the management of CDI during hospital admission. Twenty-four per cent reported delay in administration of desmopressin, while 44% reported confusion between CDI and diabetes mellitus, often leading to unnecessary blood glucose monitoring. Conclusion: Dysnatraemia is common in hospitalised patients with CDI. More than half of patients perceived their medical team's understanding of CDI to be poor when admitted with intercurrent illness. A coordinated approach, including early consultation of specialists, frequent serum sodium monitoring, and education of hospital specialists is needed to address this.

Diagnosis and Management of Central Diabetes Insipidus in Adults.

Central diabetes insipidus (CDI) is a clinical syndrome which results from loss or impaired function of vasopressinergic neurons in the hypothalamus/posterior pituitary, resulting in impaired synthesis and/or secretion of arginine vasopressin (AVP). AVP deficiency leads to the inability to concentrate urine and excessive renal water losses, resulting in a clinical syndrome of hypotonic polyuria with compensatory thirst. CDI is caused by diverse etiologies, although it typically develops due to neoplastic, traumatic, or autoimmune destruction of AVP-synthesizing/secreting neurons. This review focuses on the diagnosis and management of CDI, providing insights into the physiological disturbances underpinning the syndrome. Recent developments in diagnostic techniques, particularly the development of the copeptin assay, have improved accuracy and acceptability of the diagnostic approach to the hypotonic polyuria syndrome. We discuss the management of CDI with particular emphasis on management of fluid intake and pharmacological replacement of AVP. Specific clinical syndromes such as adipsic diabetes insipidus and diabetes insipidus in pregnancy as well as management of the perioperative patient with diabetes insipidus are also discussed.

[Central diabetes insipidus]. / Diabète insipide central.

"Central diabetes insipidus Diabetes insipidus may remain undetected for a long time, the ionogram remaining normal as long as polydipsia compensates for diuresis. In the first place, and by argument of frequency, polyuria should rule out diabetes. Diabetes insipidus is evoked in the presence of an incapacitating polyuro polydipsic syndrome, especially at night. Pituitary MRI eliminate a tumoral or infiltrative cause and confirm a central cause by the disappearance of the physiological t1 hypersignal in the post-pituitary gland. A water restriction test should only be performed in a hospital setting under close supervision. Lifetime hormone replacement therapy is appropriate in situations of pregnancy, risk of dehydration, and signs of overdose must be known by the patient, who must be educated about his or her disease."

"Diabète insipide central Le diabète insipide peut rester longtemps inaperçu, l'ionogramme restant normal tant que la polydipsie compense la diurèse. En premier lieu, et par argument de fréquence, une polyurie doit faire éliminer un diabète. Le diabète insipide est évoqué devant un syndrome polyuro-polydipsique invalidant, notamment nocturne. L'IRM hypophysaire a alors deux objectifs : éliminer une cause tumorale ou infiltrative et affirmer une cause centrale par la disparition de l'hypersignal t1 physiologique au niveau de la post-hypophyse. Un test de restriction hydrique ne doit être réalisé qu'en milieu hospitalier sous surveillance rapprochée. Le traitement hormonal substitutif à vie est adapté dans les situations de grossesse, de risque de déshydratation et les signes de surdosage doivent être connus du patient, éduqué à sa maladie."

Approach to the Pediatric Patient: Central Diabetes Insipidus.

Central diabetes insipidus (CDI) is a complex disorder in which large volumes of dilute urine are excreted due to arginine-vasopressin deficiency, and it is caused by a variety of disorders affecting the hypothalamic-posterior pituitary network. The differential diagnosis is challenging and requires a detailed medical history, physical examination, biochemical approach, imaging studies, and, in some cases, histological confirmation. Magnetic resonance imaging is the gold standard method for evaluating congenital or acquired cerebral and pituitary stalk lesions. Pituitary stalk size at presentation could be normal, but it may change over time, depending on the underlying condition, while other brain areas or organs may become involved during follow-up. Early diagnosis and treatment are crucial to avoid central nervous system damage and germ cell tumor dissemination and to minimize complications of multiple pituitary hormone defects. We provide a practical update on the diagnosis and management of patients with CDI and highlight several pitfalls that may complicate the differential diagnosis of conditions presenting with polyuria and polydipsia. The need for a careful and close follow-up of patients with apparently idiopathic CDI is particularly emphasized because the underlying condition may be recognized over time. The clinical scenario that we outline at the beginning of this article represents the basis for the discussion about how the etiological diagnosis of CDI can be overlooked and demonstrates how a water intake and urine output improvement can be a sign of progressive damage of both hypothalamus and anterior pituitary gland with associated pituitary hormonal deficiencies.

Diabetis insípida associada a holoprosencefàlia / Diabetes insípida asociada a holoprosencefalia / Diabetes insipidus associated with holoprosencephaly

Introducció. L’holoprosencefàlia és una malformació congènita greu que compromet estructures cerebrals situades ala línia mitjana. Per la seva localització, l’hipotàlem i lahipòfisi són estructures afectades sovint en aquesta entitat. La seva disfunció pot provocar trastorns de l’homeòstasii endocrinopaties com l’adípsia i la diabetis insípida.Cas clínic. Es presenta el cas d’una nena de 6 anys diagnosticada d’holoprosencefàlia als 9 mesos de vida. Consulta per somnolència i febre de 48 hores d’evolució i enl’exploració presenta signes de deshidratació. La mare refereix que no reclama ingesta hídrica tot i trobar-se deshidratada. Analíticament destaca deshidratació hipernatrèmica greu amb disfunció renal. A les 72 hores d’ingrés,després d’haver corregit les diselectrolitèmies i amb lapacient normohidratada, reapareix la hipernatrèmia ambpoliúria i osmolalitat urinària disminuïda. Es fa un test dedesmopressina que confirma la sospita diagnòstica de dèficit d’hormona antidiürètica associat a adípsia. S’instauratractament amb desmopressina i restricció hídrica amb elqual s’assoleix un bon control hidroelectrolític que esmanté en controls posteriors.Comentaris. Els pacients amb holoprosencefàlia tenen riscde presentar endocrinopaties per disfunció hipotalamohipofisiària. Per aquest motiu cal buscar-les activament encas de presentar-se la clínica clàssica de poliúria, hipernatrèmia i hipoosmolalitat urinària. (AU)

Introducción. La holoprosencefalia es una malformación congénitagrave que compromete estructuras cerebrales situadas en la líneamedia. Por su localización, el hipotálamo y la hipófisis son estructuras frecuentemente afectadas en esta entidad. Su disfunciónpuede generar trastornos de la homeostasis y endocrinopatíascomo la adipsia y la diabetes insípida.Caso clínico. Se presenta el caso de una niña de 6 años diagnosticada de holoprosencefalia a los 9 meses de vida. Consulta por somnolencia y fiebre de 48 horas de evolución y en la exploración físicadestacan signos de deshidratación. La madre refiere que no reclama ingesta hídrica pese a encontrarse deshidratada. Analíticamente destaca deshidratación hipernatrémica grave y disfunciónrenal. A las 72 horas de ingreso, corregidas las diselectrolitemias yencontrándose la paciente normohidratada, reaparece hipernatremia asociando poliuria e hipoosmolalidad urinaria. Se realiza untest de desmopresina que confirma la sospecha diagnóstica de déficit de hormona antidiurética asociado a adipsia. Se instaura tratamiento con desmopresina y restricción hídrica, alcanzando un buencontrol hidroelectrolítico que mantiene en controles posteriores.Comentarios. Los pacientes con holoprosencefalia tienen riesgo depresentar endocrinopatías por disfunción hipotálamo-hipofisaria.Por ese motivo es necesario buscarlas activamente en caso depresentarse la clínica clásica de poliuria, hipernatremia e hipoosmolalidad urinaria. (AU)

Introduction. Holoprosencephaly is a severe developmental defectthat compromise midline brain structures. Due to their location,the hypothalamus and the hypophysis are frequently involvedin this illness. Their dysfunction can lead to homeostatic andendocrine disorders such as thirst disturbances and diabetesinsipidus.Case report. Herein we report the case of a 6-year-old girl who wasdiagnosed with holoprosencephaly at 9 months old. She presentedwith a 48-hours history of somnolence and fever with signs of dehydration on examination. Her mother stated that despite beingdehydrated, she did not demand water intake. Laboratory evaluation revealed a severe hypernatremic dehydration with renal impairment. Seventy-two hours after admission, having successfullyattained fluid and electrolyte correction, she presented hypernatremia with polyuria and urine hypoosmolality. A desmopressin testwas performed confirming the suspected diagnosis of antidiuretichormone deficiency and adipsia. She responded well to desmopressin treatment and fluid restriction with restoration of serumelectrolytes, which remained within acceptable limits at follow-up.Discussion. Children with holoprosencephaly are at risk for endocrine disorders related to hypothalamic-pituitary dysfunction. It isimportant to rule out these disturbances if they present with theclassic triad of hypernatremia, polyuria and urine hypoosmolality. (AU)

Evaluating a standardized protocol for the management of diabetes insipidus in pediatric neurosurgical patients.

OBJECTIVES: Central diabetes insipidus (DI) is a known complication following surgical resection of a suprasellar mass. There are limited data analyzing the outcomes of a standardized protocol for the management of postoperative DI in the pediatric population. We sought to fill this gap and hypothesized that utilizing a standardized protocol for fluid management (3-bag system) would reduce serum sodium fluctuations in the postoperative period after suprasellar surgery. METHODS: A retrospective chart review was performed. Patients were identified with the following criteria: age ≤ 18 years, undergoing a surgical procedure for suprasellar mass that also had postoperative DI. The primary outcome was the variability in serum sodium during the first 48 h and between 48 and 120 h postoperatively. RESULTS: There were 21 encounters pre-protocol and 22 encounters post-protocol for neurosurgical procedures. Use of the standardized protocol was associated with a lower range of sodium within 48 h postoperatively (p=0.065) and 83% lower odds of hypernatremia (Na>150 mmol/L) within 48 h postoperatively (CI 0.039-0.714) after controlling for age, gender, and prior DI diagnosis. History of DI conferred a lower risk of hypernatremia as well as less sodium fluctuation within 48 h postoperatively. Younger patients, those <9.7 years of age were associated with increased risk of hyponatremia and greater sodium fluctuations during the postoperative period. CONCLUSIONS: In patients with postoperative DI after suprasellar surgery, using a standardized protocol for fluid management (3-bag system) appears to reduce serum sodium variability in the first 48 h after surgery.

Adipsic Diabetes Insipidus in Children: A Case Report and Practical Guide.

BACKGROUND Diabetes insipidus (DI) is a clinical syndrome characterized by polyuria and polydipsia that result from a deficiency of antidiuretic hormone (ADH), central DI, or resistance to ADH, nephrogenic DI. In otherwise healthy patients with DI, normal thirst mechanism, and free access to water, the thirst system can maintain plasma osmolality in the near-normal range. However, in cases where DI presents with adipsia, cognitive impairment, or restricted access to water, true hypernatremia may occur, leading to severe morbidity and mortality. CASE REPORT We report a case of a 2-year-old boy who had global developmental delay and post-brain debulking surgery involving the hypothalamic region, which resulted in central DI and thirst center dysfunction. We describe the clinical presentation, the current understanding of adipsic DI, and a new practical approach for management. The main guidelines of treatment include (1) fixed desmopressin dosing that allows minimal urinary breakthroughs in-between the doses; (2) timely diaper weight-based replacement of water; (3) bodyweight-based fluid correction 2 times a day, and (4) providing the nutritional and water requirements in a way similar to any healthy child but at fixed time intervals. CONCLUSIONS This plan of management showed good effectiveness in controlling plasma sodium level and volume status of a child with adipsic DI without interfering with his average growth. This home treatment method is practical and readily available, provided that the family remains very adherent.

Diabetes insipidus.

Diabetes insipidus (DI) is a disorder characterized by a high hypotonic urinary output of more than 50ml per kg body weight per 24 hours, with associated polydipsia of more than 3 liters a day [1,2]. Central DI results from inadequate secretion and usually deficient synthesis of Arginine vasopressin (AVP) in the hypothalamus or pituitary gland. Besides central DI further underlying etiologies of DI can be due to other primary forms (renal origin) or secondary forms of polyuria (resulting from primary polydipsia). All these forms belong to the Polyuria Polydipsia Syndrom (PPS). In most cases central and nephrogenic DI are acquired, but there are also congenital forms caused by genetic mutations of the AVP gene (central DI) [3] or by mutations in the gene for the AVP V2R or the AQP2 water channel (nephrogenic DI) [4]. Primary polydipsia (PP) as secondary form of polyuria includes an excessive intake of large amounts of fluid leading to polyuria in the presence of intact AVP secretion and appropriate antidiuretic renal response. Differentiation between the three mentioned entities is difficult [5], especially in patients with Primary polydipsia or partial, mild forms of DI [1,6], but different tests for differential diagnosis, most recently based on measurement of copeptin, and a thorough medical history mostly lead to the correct diagnosis. This is important since treatment strategies vary and application of the wrong treatment can be dangerous [7]. Treatment of central DI consists of fluid management and drug therapy with the synthetic AVP analogue Desmopressin (DDAVP), that is used as nasal or oral preparation in most cases. Main side effect can be dilutional hyponatremia [8]. In this review we will focus on central diabetes insipidus and describe the prevalence, the clinical manifestations, the etiology as well as the differential diagnosis and management of central diabetes insipidus in the out- and inpatient setting.

Adipsic diabetes insipidus.

Adipsic diabetes insipidus (ADI) is a rare but devastating disorder of water balance with significant associated morbidity and mortality. Most patients develop the disease as a result of hypothalamic destruction from a variety of underlying etiologies. Damage to osmolar-responsive neuroreceptors, primarily within the supraoptic and paraventricular nuclei, results in impaired production and release of arginine vasopressin (AVP). Important regulating circuits of thirst sense and drive are regionally colocalized with AVP centers and therefore are also injured. Patients with central diabetes insipidus with impaired thirst response, defined as ADI, suffer from wide swings of plasma osmolality resulting in repeated hospitalization, numerous associated comorbidities, and significant mortality. Treatment recommendations are based largely on expert advice from case series owing to the rarity of disease prevalence. Acute disease management focuses on fixed dosing of antidiuretic hormone analogues and calculated prescriptions of obligate daily water intake. Long-term care requires patient/family education, frequent reassessment of clinical and biochemical parameters, as well as screening and treatment of comorbidities.

ENDOCRINOLOGY IN THE TIME OF COVID-19-2021 UPDATES: The management of diabetes insipidus and hyponatraemia.

COVID-19 has changed the nature of medical consultations, emphasizing virtual patient counselling, with relevance for patients with diabetes insipidus (DI) or hyponatraemia. The main complication of desmopressin treatment in DI is dilutional hyponatraemia. Since plasma sodium monitoring is not always possible in times of COVID-19, we recommend to delay the desmopressin dose once a week until aquaresis occurs allowing excess retained water to be excreted. Patients should measure their body weight daily. Patients with DI admitted to the hospital with COVID-19 have a high risk for mortality due to volume depletion. Specialists must supervise fluid replacement and dosing of desmopressin. Patients after pituitary surgery should drink to thirst and measure their body weight daily to early recognize the development of postoperative SIAD. They should know hyponatraemia symptoms. Hyponatraemia in COVID-19 is common with a prevalence of 20-30% and is mostly due to SIAD or hypovolaemia. It mirrors disease severity and is an early predictor of mortality. Hypernatraemia may also develop in COVID-19 patients, with a prevalence of 3-5%, especially in ICU, and derives from different multifactorial reasons, for example, due to insensible water losses from pyrexia, increased respiration rate and use of diuretics. Hypernatraemic dehydration may contribute to the high risk of acute kidney injury in COVID-19. IV fluid replacement should be administered with caution in severe cases of COVID-19 because of the risk of pulmonary oedema.

Vasopressin-Dependent Disorders: What Is New in Children?

Arginine vasopressin (AVP)-mediated osmoregulatory disorders, such as diabetes insipidus (DI) and syndrome of inappropriate secretion of antidiuretic hormone (SIADH) are common in the differential diagnosis for children with hypo- and hypernatremia and require timely recognition and treatment. DI is caused by a failure to concentrate urine secondary to impaired production of or response to AVP, resulting in hypernatremia. Newer methods of diagnosing DI include measuring copeptin levels; copeptin is AVP's chaperone protein and serves as a surrogate biomarker of AVP secretion. Intraoperative copeptin levels may also help predict the risk for developing DI after neurosurgical procedures. Copeptin levels hold diagnostic promise in other pediatric conditions, too. Recently, expanded genotype and phenotype correlations in inherited DI disorders have been described and may better predict the clinical course in affected children and infants. Similarly, newer formulations of synthetic AVP may improve pediatric DI treatment. In contrast to DI, SIADH, characterized by inappropriate AVP secretion, commonly leads to severe hyponatremia. Contemporary methods aid clinicians in distinguishing SIADH from other hyponatremic conditions, particularly cerebral salt wasting. Further research on the efficacy of therapies for pediatric SIADH is needed, although some adult treatments hold promise for pediatrics. Lastly, expansion of home point-of-care sodium testing may transform management of SIADH and DI in children. In this article, we review recent developments in the understanding of pathophysiology, diagnostic workup, and treatment of better outcomes and quality of life for children with these challenging disorders.

Diagnosis and management of diabetes insipidus for the internist: an update.

Diabetes insipidus is a disorder characterized by excretion of large amounts of hypotonic urine. Four entities have to be differentiated: central diabetes insipidus resulting from a deficiency of the hormone arginine vasopressin (AVP) in the pituitary gland or the hypothalamus, nephrogenic diabetes insipidus resulting from resistance to AVP in the kidneys, gestational diabetes insipidus resulting from an increase in placental vasopressinase and finally primary polydipsia, which involves excessive intake of large amounts of water despite normal AVP secretion and action. Distinguishing between the different types of diabetes insipidus can be challenging. A detailed medical history, physical examination and imaging studies are needed to detect the aetiology of diabetes insipidus. Differentiation between the various forms of hypotonic polyuria is then done by the classical water deprivation test or the more recently developed hypertonic saline or arginine stimulation together with copeptin (or AVP) measurement. In patients with idiopathic central DI, a close follow-up is needed since central DI can be the first sign of an underlying pathology. Treatment of diabetes insipidus or primary polydipsia depends on the underlying aetiology and differs in central diabetes insipidus, nephrogenic diabetes insipidus and primary polydipsia. This review will discuss issues and newest developments in diagnosis, differential diagnosis and treatment, with a focus on central diabetes insipidus.

Surgery versus conservative care for Rathke's cleft cyst.

BACKGROUND: Rathke's cleft cysts are benign cystic lesions of the sellar region, which may cause headache, pituitary deficiencies and visual disturbances from mass effect. Their management is not standardized yet. This study is about establishing a consensus for medical care of RCC. MATERIAL AND METHODS: We performed a retrospective observational study of all patients that were diagnosed or followed for RCC between 2008 and 2018 (11 years), in the neurosurgical and the adult endocrine departments of our institution. The study's average time length of follow-up is 72.9 months (from 2 to 385 months). RESULTS: The 57 included patients were divided into 2 groups: group A, which included 39 patients that were conservatively managed and group B, which included 18 surgically treated patients. Group A showed either an improvement or a spontaneous resolution of headaches in 56.1% of the cases (P<0.01); a resolution of hyperprolactinemia in 70% of the cases (P=0.21); and of hypogonadism, ACTH deficiency, growth hormone deficiency in 100% of the cases. There was no spontaneous improvement of visual disturbances (P<0.01) or diabetes insipidus (P=0.29) during follow-up. Regarding group B, surgery allowed improvement or complete resolution of headaches in 60% of the cases; visual troubles in 100% of the cases (P<0.01); and hyperprolactinemia in 100% of the cases. Pituitary deficiencies were not improved by surgery. CONCLUSIONS: This study offers guidance in decision-making regarding the management of RCC patients. Surgery is particularly suitable for treating visual disturbances caused by RCC. Regular follow-up is more appropriate than surgery concerning headaches, hyperprolactinemia, endocrine disruptions and diabetes insipidus.

Primary polydipsia: Update.

In primary polydipsia pathologically high levels of water intake physiologically lower arginine vasopressin (AVP) secretion, and in this way mirror the secondary polydipsia in diabetes insipidus in which pathologically low levels of AVP (or renal responsiveness to AVP) physiologically increase water intake. Primary polydipsia covers several disorders whose clinical features and significance, risk factors, pathophysiology and treatment are reviewed here. While groupings may appear somewhat arbitrary, they are associated with distinct alterations in physiologic parameters of water balance. The polydipsia is typically unrelated to homeostatic regulation of water intake, but instead reflects non-homeostatic influences. Recent technological advances, summarized here, have disentangled functional neurocircuits underlying both homeostatic and non-homeostatic physiologic influences, which provides an opportunity to better define the mechanisms of the disorders. We summarize this recent literature, highlighting hypothalamic circuitry that appears most clearly positioned to contribute to primary polydipsia. The life-threatening water imbalance in psychotic disorders is caused by an anterior hippocampal induced stress-diathesis that can be reproduced in animal models, and involves phylogenetically preserved pathways that appear likely to include one or more of these circuits. Ongoing translational neuroscience studies in these animal models may potentially localize reversible pathological changes which contribute to both the water imbalance and psychotic disorder.