Materiały źródłowe

• #1 Diabetes Insipidus: Pathogenesis, Diagnosis, and Clinical Management

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7996474/

  Diabetes insipidus (DI) is a rare disorder, affecting roughly 1 in 25,000 people or about 0.004% of the global population. Due to the rare occurrence in the population, the various forms of DI can be relatively neglected in medical education as well as in a research setting for improving clinical management. Epidemiologically, DI does not show a predilection for males or females and it can develop at any age with hereditary forms developing earlier in life. DI can be classified into four major categories which include central, nephrogenic, dipsogenic, or gestational. […] The subtypes of DI can be compared and summarized in Table 1, including the method of diagnosis and treatment. […] There is no specific pattern, gender, or race that is immediately more susceptible to acquired DI. As can be seen with CDI and DDI, the acquired forms develop from traumatic brain injury, infections, surgery, cancer, and hypothalamus/posterior pituitary hemorrhage. DDI can also be caused by mental illness such as schizophrenia. The main form of NDI is acquired through lithium therapy in bipolar patients. Other medications leading to NDI include amphotericin B and demeclocycline, but are extremely rare. In congenital CDI, the frequency of autosomal forms is currently unknown. Regarding congenital NDI, inheritance follows an x-linked pattern. In particular, x-linked NDI accounts for approximately 90% of congenital NDI and occurs with a frequency of 4-8 per one million live male births. No gender difference has been reported for the autosomal dominant and recessive forms. Interestingly, women who are pregnant with males are at a higher risk of developing gestational DI. However, the main contributing factors leading to gestational DI are genetics combined with sedentary lifestyle factors.

• #2 Arginine Vasopressin Disorder (Diabetes Insipidus) – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK470458/

  Arginine vasopressin disorder (AVP-D) is an uncommon endocrine disorder affecting nearly 1 in 25,000 people, or about 0.004% of the global population. On epidemiological review, DI does not show a preference for males or females. It may develop at any age, with hereditary forms presenting earlier in life. Given the rare occurrence of this condition, the different forms can be missed in medical practice with poor consequences.

• #3 Arginine vasopressin deficiency (central diabetes insipidus): Etiology, clinical manifestations, and postdiagnostic evaluation – UpToDate

  https://www.uptodate.com/contents/clinical-manifestations-and-causes-of-central-diabetes-insipidus

  AVP-D is a rare disorder, with a reported prevalence of 1 in 25,000 individuals. Most cases are acquired; AVP-D is attributable to genetic causes in fewer than 5 percent of patients. The prevalence of AVP-D is similar in females and males. […] AVP-D is a rare disorder. Most cases are acquired; genetic causes account for fewer than 5 percent of cases.

• #4 Diabetes Insipidus: Practice Essentials, Background, Etiology

  https://emedicine.medscape.com/article/117648-overview

  DI is uncommon in the United States, with a prevalence of 3 cases per 100,000 population. […] No significant sex-related differences in central or nephrogenic DI exist, with male and female prevalence being equal. […] Similarly, no significant differences in prevalence among ethnic groups have been found. […] With both central and nephrogenic DI, inherited causes account for approximately 1-2% of all cases. […] An incidence of about 1 in 20 million births for nephrogenic DI caused by AQP2 mutations has been cited.

• #5 Diabetes insipidus | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/diabetes-insipidus?lang=us

  Diabetes insipidus occurs in 3 per 100,000 people 2.

• #6 AVP-deficiency (central diabetes insipidus) registry in Russia: epidemiology and clinical characteristics | ECE2024 | 26th European Congress of Endocrinology | Endocrine Abstracts

  https://www.endocrine-abstracts.org/ea/0099/ea0099ep324

  AVP-deficiency (central diabetes insipidus) registry in Russia: epidemiology and clinical characteristics […] Epidemiological data on AVP-deficiency is scarce, with non-univocal reported prevalence of 4 per 100.000 for all cases of central and nephrogenic DI without clear gender predominance. […] Overall prevalence of AVP-d in Russia according to the National registry is 2.1 cases per 100 000 population. […] Russian Registry for AVP-deficiency provides valuable data on demography, etiology, treatment modalities. Continued improvement of the registry will provide more balanced epidemiological data, which is currently lacking worldwide.

• #7 Arginine vasopressin deficiency (central diabetes insipidus): Etiology, clinical manifestations, and postdiagnostic evaluation – UpToDate

  https://www.uptodate.com/contents/arginine-vasopressin-deficiency-central-diabetes-insipidus-etiology-clinical-manifestations-and-postdiagnostic-evaluation

  AVP-D is a rare disorder, with a reported prevalence of 1 in 25,000 individuals. Most cases are acquired; AVP-D is attributable to genetic causes in fewer than 5 percent of patients. The prevalence of AVP-D is similar in females and males. This contrasts with arginine vasopressin V2 resistance (AVP-R, formerly called nephrogenic diabetes insipidus), which is often X-linked and occurs predominantly in males. […] AVP-D is a rare disorder. Most cases are acquired; genetic causes account for fewer than 5 percent of cases.

• #8

  https://exonpublications.com/index.php/exon/article/view/diabetes-insipidus-public-education

  Diabetes Insipidus is a rare disorder, with an estimated prevalence of 1 in 25,000 people. […] Central DI is more common than nephrogenic DI, and the condition can occur in both males and females equally. […] Nephrogenic DI can be either congenital, due to genetic mutations, or acquired later in life. […] The congenital form of nephrogenic DI is more common in males because it is often linked to mutations in the AVPR2 gene, which is located on the X chromosome. […] The incidence of DI may vary based on underlying conditions, such as head trauma or the use of certain medications.

• #9 Diabetes Insipidus | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/diabetes-insipidus

  Approximately 1 in 30,000 children has diabetes insipidus. […] Prompt diagnosis and treatment of diabetes insipidus in children is very important. […] About 30 to 50 percent of cases of diabetes insipidus are idiopathic, meaning they have no known cause. […] Diabetes insipidus is not typically apparent at birth. […] Central diabetes insipidus can be a temporary or a permanent condition, depending on what’s causing it. […] Almost all children with central diabetes insipidus lead full, healthy lives. […] Children with nephrogenic diabetes insipidus can also lead relatively normal lives with proper medical care and management. […] The Division of Endocrinology at Boston Children’s Hospital provides comprehensive diagnosis, treatment, and management of children with diabetes insipidus and other disorders associated with the endocrine system.

• #10

  https://www.nhs.uk/conditions/diabetes-insipidus/

  Diabetes insipidus affects about 1 in 25,000 people in the general population. […] Adults are more likely to develop the condition, but it can occur at any age. […] In rarer cases, diabetes insipidus can develop during pregnancy, known as gestational diabetes insipidus.

• #11 Diabetes insipidus epidemiology and demographics – wikidoc

  https://www.wikidoc.org/index.php/Diabetes_insipidus_epidemiology_and_demographics

  The prevalence of diabetes insipidus is estimated to be 3 cases per 100,000 individuals worldwide. […] The incidence of diabetes insipidus is 1 in 20 million births for nephrogenic diabetes insipidus caused by AQP2 mutations. […] The prevalence and incidence of both central and nephrogenic diabetes insipidus does not vary by gender. […] There is no racial predilection for diabetes insipidus. […] Incidence, prevalence, and geographical distribution of both central diabetes insipidus and nephrogenic diabetes insipidus does not vary.

• #12 Diabetes Insipidus | Concise Medical Knowledge

  https://www.lecturio.com/concepts/diabetes-insipidus/

  Total prevalence is 1 in 25,000 people. […] Central diabetes insipidus (CDI) is more common than nephrogenic diabetes insipidus (NDI). […] Only 1 in 10 cases of DI is congenital. […] Men and women are equally affected. […] 20% of patients undergoing neurosurgery will develop some degree of DI.

• #13 Diabetes Insipidus: Symptoms, Causes, Diagnosis, Treatment, and Prevention

  https://www.everydayhealth.com/diabetes/diabetes-insipidus/

  Diabetes insipidus is rare, affecting roughly one in 25,000 people or about 0.004 percent of the global population. […] Central diabetes insipidus is the most common form, and is estimated to be equally prevalent in both sexes and at any age. […] Researchers suggest its the most prevalent type due to traumatic brain injuries, infections, loss of blood to the pituitary gland or hypothalamus, neurosurgery, and tumors.

• #14

  https://iej.zaslavsky.com.ua/index.php/journal/article/view/147

  Central diabetes insipidus is characterized by the inability of the kidneys to reabsorb water and concentrate urine, which is due to the defect in the synthesis or secretion of vasopressin and is manifested by severe thirst and excretion of large amounts of diluted urine. […] It was found that by the end of 2018, 1,237 children and adolescents with diabetes insipidus were registered in the Republic of Uzbekistan and the Republic of Karakalpakstan. […] The idiopathic form of diabetes insipidus was observed predominantly in 214 individuals (55.8 %), the second most common form was central diabetes insipidus 129 patients (40.9 %), while the renal and hereditary forms of the disease were less common 26 (3.3 %) and 3 (0.2 %), respectively. […] In the regions of the Republic of Uzbekistan and the Republic of Karakalpakstan, two forms of diabetes insipidus were most common: idiopathic 214 (55.8 %) and central 129 cases (40.9 %).

• #15 Clinical guidelines for management of diabetes insipidus and syndrome of inappropriate antidiuretic hormone secretion after pituitary surgery | Endocrinología y Nutrición (English Edition)

  https://www.elsevier.es/es-revista-endocrinologia-nutricion-412-articulo-clinical-guidelines-for-management-diabetes-S2173509314000853

  Diabetes insipidus (DI) occurs as a consequence of decreased or absent AVP. DI is characterized by polydipsia and polyuria with voiding of diluted or hypotonic urine. If water excretion exceeds water supply, natremia and Osmp are increased, which may cause hypovolemia and hypotension in extreme situations. […] Transient DI is a very common perioperative complication of pituitary surgery, but its incidence depends on the degree of clinical suspicion and the diagnostic criteria used. Hensen et al. noted polyuria in the early postoperative period in 31% of 1571 patients undergoing surgery for pituitary adenoma, and Nemergut et al. in 18.3% of 881 patients operated on for various sellar lesions. In a prospective, controlled study conducted on 52 patients who underwent surgery for pituitary adenoma, 38% experienced isolated DI and 15.7% combined DI (DI followed by hyponatremia). Persistent DI is however uncommon (0.25% and 2%).

• #16 Clinical guidelines for management of diabetes insipidus and syndrome of inappropriate antidiuretic hormone secretion after pituitary surgery | Endocrinología y Nutrición (English Edition)

  https://www.elsevier.es/es-revista-endocrinologia-nutricion-412-articulo-clinical-guidelines-for-management-diabetes-S2173509314000853

  Factors apparently increasing the risk of DI include: Young age, Male sex, Tumor size: more common in large intrasellar masses and macroadenomas, Intraoperative cerebrospinal fluid fistula, Histological type: Rathke cleft cysts and craniopharyngiomas. […] Inappropriate antidiuretic hormone secretion (SIADH) is a relatively common complication of transsphenoidal surgery. Hyponatremia of any cause occurs in 13-35% of patients undergoing transsphenoidal surgery, and is symptomatic in 27%. The reason for the above variability is that it is often overlooked because its symptoms are usually mild and non-specific and may also be seen in patients with normal or low sodium levels. […] Some studies reported female sex or Cushing’s disease to be predisposing factors, but most studies published did not find age, sex, or tumor type or size to be associated with a statistically significant excess risk. By contrast, the presence of postoperative DI did increase the risk of subsequent SIADH in some series.

• #17 Diabetes Insipidus after Traumatic Brain Injury

  https://www.mdpi.com/2077-0383/4/7/1448

  Diabetes insipidus (DI) is caused by decreased secretion (central/neurogenic DI) or action (nephrogenic DI) of antidiuretic hormone (ADH, vasopressin). […] The epidemiological data on PTDI are affected by a number of inconsistencies amongst the published studies: heterogeneity of the diagnostic criteria used, of the characteristics of the studied population (different degrees of TBI severity) and of the timing of evaluation. As a consequence, the true prevalence of PTDI is difficult to be estimated, ranging between 2.9%–51%. […] Risk factors for PTDI include low Glasgow coma scale (GCS) score, cerebral edema and severe injury. […] The occurrence of DI has been associated with brain death as it is present in 80% of the brain-dead patients. […] The overall mortality of TBI patients with PTDI ranges between 57%–69% and increases to 86%–90% in those with early-onset of DI, in the first three days from injury.

• #18 Arginine Vasopressin Disorder (Diabetes Insipidus) | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/20428

  Arginine vasopressin disorder (AVP-D) is an uncommon endocrine disorder affecting nearly 1 in 25,000 people, or about 0.004% of the global population. On epidemiological review, DI does not show a preference for males or females. It may develop at any age, with hereditary forms presenting earlier in life. Given the rare occurrence of this condition, the different forms can be missed in medical practice with poor consequences. […] […] false

• #19 Challenges and improvement needs in the care of patients with central diabetes insipidus | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-022-02191-2

  Central diabetes insipidus (CDI) is a rare condition, with significant impact on patient health and well-being. […] Central diabetes insipidus (CDI) is a rare disease affecting approximately 1 in 25,000 individuals. […] The evidence base on how to care for patients with this condition is fragmented. […] There is a need to advance knowledge on the diversity of challenges to patient care and to identify scope for improvement. […] We identify clinical challenges related to the diagnosis of CDI, including differentiating between other similar conditions and determining the underlying aetiology. […] There is also a significant need for raising awareness and for the education of both healthcare professionals and patients about different aspects of CDI, with the aim of supporting improved care and effective patient engagement with healthcare professionals.

• #20 Challenges and improvement needs in the care of patients with central diabetes insipidus | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-022-02191-2

  Timely diagnosis is impeded if symptoms are not noticed promptly, or if other aetiologies for polyuria and polydipsia are investigated first. […] A lack of awareness among primary care physicians regarding the symptoms of CDI can also impede timely diagnosis and referral. […] The time to diagnosis can vary across countries. […] The COVID-19 pandemic has also created specific challenges for patients with CDI. […] There is a need to consider how patients can best be cared for in the context of any future pandemics, both in terms of remote care and any essential face to face contact with clinicians.

• #21 Diabetes insipidus | The BMJ

  https://www.bmj.com/content/364/bmj.l321

  Diabetes insipidus is rare, with a prevalence of 1 in 25000. Central diabetes insipidus usually results from pituitary pathology, either as a result of infiltrative or inflammatory pathology, or following surgery for a pituitary tumour, but may also be due to a congenital defect in the production of arginine vasopressin. Nephrogenic diabetes insipidus is usually caused by electrolyte disturbance, renal disease, or drug toxicity (commonly lithium). […] Between 2009 and 2016 there were four reported deaths in England resulting from omission of desmopressin, and a further 56 reported incidents where dosing errors resulted in harm.

• #22 Top Published Expert Doctors for Diabetes Insipidus

  https://findexpertmd.com/d/Diabetes_Insipidus

  321 top medical experts on Diabetes Insipidus across 48 countries and 27 U.S. states, including 186 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants. […] Clinical Trials: ClinicalTrials.gov: at least 80 including 1 Active, 58 Completed, 9 Recruiting.

• #23 Diabetes Insipidus (Arginine Vasopressin Deficiency) information | Society for Endocrinology

  https://www.endocrinology.org/clinical-practice/clinical-guidance/arginine-vasopressin-deficiency-diabetes-insipidus/diabetes-insipidus-arginine-vasopressin-deficiency-information/

  Diabetes insipidus is a rare but treatable chronic condition caused by the lack of the posterior pituitary hormone vasopressin (AVP, also known as anti-diuretic hormone) resulting in uncontrolled diuresis. It is treated with desmopressin (DDAVP, a synthetic AVP analogue) which reduces diuresis. […] Society for Endocrinology guidelines for the inpatient management of diabetes insipidus. […] The Pituitary Foundation has produced a card for people with diabetes insipidus or vasopressin insufficiency to inform doctors of their condition and treatment requirements.

• #24 Arginine Vasopressin Deficiency (Diabetes Insipidus) | Society for Endocrinology

  https://www.endocrinology.org/clinical-practice/clinical-guidance/arginine-vasopressin-deficiency-diabetes-insipidus/

  Arginine Vasopressin Deficiency (Diabetes Insipidus) is a rare but treatable chronic condition caused by the lack of the posterior pituitary hormone vasopressin (AVP, also known as anti-diuretic hormone) resulting in uncontrolled diuresis. […] Society for Endocrinology guidelines for the inpatient management of diabetes insipidus. […] Download clinical guidelines for treating inpatients with diabetes insipidus.

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