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Annales D'endocrinologie Feb 2024Diabetes insipidus is a disorder characterized by hypo-osmotic polyuria secondary to abnormal synthesis, regulation, or renal action of antidiuretic hormone. Recently,... (Review)
Review
Diabetes insipidus is a disorder characterized by hypo-osmotic polyuria secondary to abnormal synthesis, regulation, or renal action of antidiuretic hormone. Recently, an expert group, with the support of patient associations, proposed that diabetes insipidus be renamed to avoid confusion with diabetes mellitus. The most common form of diabetes insipidus is secondary to a dysfunction of the neurohypophysis (central diabetes insipidus) and would be therefore named â€̃vasopressin deficiency’. The rarer form, which is linked to renal vasopressin resistance (nephrogenic diabetes insipidus), would then be named â€̃vasopressin resistance’. The etiology of diabetes insipidus is sometimes clear, in the case of a neurohypophyseal cause (tumoral or infiltrative damage) or a renal origin, but in some cases diabetes insipidus can be difficult to distinguish from primary polydipsia, which is characterized by consumption of excessive quantities of water without any abnormality in regulation or action of antidiuretic hormone. Apart from patients’ medical history, physical examination, and imaging of the hypothalamic-pituitary region, functional tests such as water deprivation or stimulation of copeptin by hyperosmolarity (induced by infusion of hypertonic saline) can be proposed in order to distinguish between these different etiologies. The treatment of diabetes insipidus depends on the underlying etiology, and in the case of a central etiology, is based on the administration of desmopressin which improves patient symptoms but does not always result in an optimal quality of life. The cause of this altered quality of life may be oxytocin deficiency, oxytocin being also secreted from the neurohypophysis, though this has not been fully established. The possibility of a new test using stimulation of oxytocin to identify alterations in oxytocin synthesis is of interest and would allow confirmation of a deficiency in those patients presenting with diabetes insipidus linked to neurohypophyseal dysfunction.
PubMed: 38316255
DOI: 10.1016/j.ando.2023.11.006 -
Experimental and Therapeutic Medicine Jul 2021Nephrogenic diabetes insipidus (NDI) is characterized by impaired urinary concentrating ability, despite normal or elevated plasma concentrations of the antidiuretic... (Review)
Review
Nephrogenic diabetes insipidus (NDI) is characterized by impaired urinary concentrating ability, despite normal or elevated plasma concentrations of the antidiuretic hormone, arginine vasopressin (AVP). NDI can be inherited or acquired. NDI can result from genetic abnormalities, such as mutations in the vasopressin V2 receptor () or the aquaporin-2 (AQP2) water channel, or acquired causes, such as chronic lithium therapy. Congenital NDI is a rare condition. Mutations in are responsible for approximately 90% of patients with congenital NDI, and they have an X-linked pattern of inheritance. In approximately 10% of patients, congenital NDI has an autosomal recessive or dominant pattern of inheritance with mutations in the gene. In 2% of cases, the genetic cause is unknown. The main symptoms at presentation include growth retardation, vomiting or feeding concerns, polyuria plus polydipsia, and dehydration. Without treatment, most patients fail to grow normally, and present with associated constipation, urological complication, megacystis, trabeculated bladder, hydroureter, hydronephrosis, and mental retardation. Treatment of NDI consist of sufficient water intake, low-sodium diet, diuretic thiazide, sometimes in combination with a cyclooxygenase (COX) inhibitor (indomethacin) or nonsteroidal anti-inflammatory drugs (NSAIDs), or hydrochlorothiazide in combination with amiloride. Some authors note a generally favorable long-term outcome and an apparent loss of efficacy of medical treatment during school age.
PubMed: 34055061
DOI: 10.3892/etm.2021.10178 -
Clinical Pediatrics Oct 2023Central diabetes insipidus (CDI) is a disorder in the pediatric population resulting from antidiuretic hormone deficiency. The excessive production of dilute urine...
Central diabetes insipidus (CDI) is a disorder in the pediatric population resulting from antidiuretic hormone deficiency. The excessive production of dilute urine characterizes it and manifests with polyuria, nocturia, and polydipsia. The diagnostics of CDI is often challenging, especially concerning the underlying condition of the disease. This article highlights the diverse clinical presentation of children with CDI and diagnostic difficulties among patients with polyuria and polydipsia. The article also reviews the etiology, symptoms, diagnostic workup, and management of CDI. We present 4 pediatric patients (aged 3-13.5 years) diagnosed with CDI of different etiology: 1 due to septo-optic dysplasia/optic nerve hypoplasia and 3 due to acquired processes such as Langerhans cell histiocytosis and germ cell tumor in 2 patients. Central diabetes insipidus was the first manifestation of a tumor or granuloma in all presented patients with acquired pathology. The patients sometimes need long-term follow-up to establish the proper final diagnosis.
PubMed: 37798950
DOI: 10.1177/00099228231202607 -
Advances in Experimental Medicine and... 2023There are at least eight aquaporins (AQPs) expressed in the kidney. Including AQP1 expressed in proximal tubules, thin descending limb of Henle and vasa recta; AQP2,...
There are at least eight aquaporins (AQPs) expressed in the kidney. Including AQP1 expressed in proximal tubules, thin descending limb of Henle and vasa recta; AQP2, AQP3, AQP4, AQP5, and AQP6 expressed in collecting ducts; AQP7 expressed in proximal tubules; AQP8 expressed in proximal tubules and collecting ducts; and AQP11 expressed in the endoplasmic reticulum of proximal tubular epithelial cells. Over years, researchers have constructed different AQP knockout mice and explored the effect of AQP knockout on kidney function. Thus, the roles of AQPs in renal physiology are revealed, providing very useful information for addressing fundamental questions about transepithelial water transport and the mechanism of near isoosmolar fluid reabsorption. This chapter introduces the localization and function of AQPs in the kidney and their roles in different kidney diseases to reveal the prospects of AQPs in further basic and clinical studies.
Topics: Mice; Animals; Aquaporin 2; Aquaporins; Kidney; Kidney Diseases; Kidney Tubules, Proximal; Mice, Knockout
PubMed: 36717493
DOI: 10.1007/978-981-19-7415-1_11 -
AACE Clinical Case Reports 2024
PubMed: 38799043
DOI: 10.1016/j.aace.2024.02.002 -
International Urology and Nephrology Jan 2023Nocturia is the complaint that an individual has to wake up at night one or more times to urinate. It is a frequent condition among older adults and entails detrimental... (Review)
Review
Nocturia is the complaint that an individual has to wake up at night one or more times to urinate. It is a frequent condition among older adults and entails detrimental effects with regard to sleeping, sexual activity, comfort, depression, mental function and vitality. It is clinically important to distinguish it from global polyuria, defined as a urinary rate ≥ 125 ml/h (3000 ml/day), as well as from nocturnal polyuria, which is an abnormally large volume of urine during sleep associated with a decreased daytime urine production. A Frequency Volume Chart (FVC), overnight water deprivation test with renal concentrating capacity test, and the nocturnal bladder capacity index are some of the methods that help establish the underlying pathology of this condition and hence define an adequate treatment plan.
Topics: Humans; Aged; Nocturia; Polyuria; Urinary Bladder; Sleep; Algorithms
PubMed: 35945304
DOI: 10.1007/s11255-022-03317-y -
Handbook of Clinical Neurology 2021Nocturnal enuresis is the involuntary pass of urine during sleep beyond the age of 5 years. It is a common condition in childhood and has an impact on the child's... (Review)
Review
Nocturnal enuresis is the involuntary pass of urine during sleep beyond the age of 5 years. It is a common condition in childhood and has an impact on the child's well-being. Research into the pathophysiology of the condition in the last decades has led to a paradigm shift, and enuresis is no longer considered a psychiatric disorder but rather a maturation defect with a somatic background. An excess urine production during sleep is a common finding in children with enuresis and disturbances in the circadian rhythm of arginine-vasopressin (AVP) is found in the majority of children with nocturnal polyuria. Children with enuresis and nocturnal polyuria lack the physiologic increase in AVP levels during sleep and treatment with the AVP analogue desmopressin can restore this rhythm and lead to dry nights. The reasons for this aberrant circadian AVP rhythm are not established. Furthermore, not all children with enuresis and nocturnal polyuria can be successfully treated with desmopressin suggesting that factors beyond renal water handling can be implicated such as natriuresis, hypercalciuria, and sleep-disordered breathing. The advances in the research of the genetic background of the condition may shed further light on the enuresis pathophysiology.
Topics: Arginine; Arginine Vasopressin; Child; Child, Preschool; Circadian Rhythm; Deamino Arginine Vasopressin; Humans; Nocturnal Enuresis; Polyuria; Vasopressins
PubMed: 34238464
DOI: 10.1016/B978-0-12-820683-6.00021-X -
Clinical Endocrinology Apr 2023Copeptin is secreted in isomolar amounts along with arginine vasopressin peptide (AVP) from the neurohypophysis. Its stability makes it a perfect candidate for the...
OBJECTIVE
Copeptin is secreted in isomolar amounts along with arginine vasopressin peptide (AVP) from the neurohypophysis. Its stability makes it a perfect candidate for the endocrine approach in the diagnosis of AVP deficiency (AVPD; cranial diabetes insipidus; CDI). However, pediatric reference values are lacking.
DESIGN AND PATIENTS
This is a monocentric retrospective analysis of donated residual serum samples from 72 children and adolescents who underwent arginine or growth hormone-releasing hormone-arginine stimulation to test GH secretory capacity from 2018 to 2022.
MEASUREMENTS
Copeptin was measured in baseline, 30-, and 60-min samples by BRAHMS Copeptin proAVP Kryptor immunofluorescence assay.
RESULTS
Of the 72 patients, 4 suffered from complete AVPD (CDI). The baseline level of copeptin in the 68 non-AVPD (non-CDI) patients was highly variable (range: 1.3-44.4 pmol/L). The increase after arginine was moderate (30 min range: 1.6-40.4 pmol/L). The median baseline and peak copeptin levels were 5.6 and 8.0 pmol/L, respectively. The 2.5th percentile of the baseline and peak values of copeptin were 2.1 and 3.3 pmol/L, respectively. The increase and peak value of copeptin were inversely related to age (R = -.405; p = .011, and R = -.335; p = .0072, respectively) but not to gender, body mass index (standard deviation score) or GH secretion. In the four patients with AVPD (CDI), baseline or stimulated copeptin was below the 2.5th percentile of non-AVPD (non-CDI) patients.
CONCLUSIONS
Stimulated copeptin is a promising parameter for the differential diagnosis of polyuria-polydipsia syndrome. However, the low copeptin increase after arginine and the high limit of quantification of the assay are problematic for use in paediatrics.
Topics: Humans; Child; Adolescent; Arginine; Retrospective Studies; Glycopeptides; Diabetes Insipidus, Neurogenic
PubMed: 36710502
DOI: 10.1111/cen.14880 -
Deutsche Medizinische Wochenschrift... Aug 2019A finely balanced control system keeps the extracellular calcium concentration within narrow limits. Disorders of calcium metabolism are often based on altered... (Review)
Review
A finely balanced control system keeps the extracellular calcium concentration within narrow limits. Disorders of calcium metabolism are often based on altered parathormone levels. Symptoms are not always clear, sometimes they are even missing: the more it is important to know possible associated diseases. The author presents basics, current diagnostics and concrete therapy options. Central hormone for the regulation of the calcium balance is the parathyroid hormone. With decreasing calcium, PTH leads to an increase in extracellular free calcium concentration in three ways. The classic symptoms of pHPT (polyuria, polydipsia, "stone, leg, and stomach pain") are rare now, as the condition is diagnosed much earlier. Treatment of choice in all symptomatic patients with pHPT is surgery. FHH and pHPT are both characterized by hypercalcaemia and increased parathyroid hormone. The differential diagnosis of urinary calcium excretion, which is usually lower in FHH but normal or elevated in pHPT, is crucial. In primary hypoparathyroidism, parathyroid failure interferes with calcium homeostasis at a central location. Consequences are hypocalcaemia, hyperphosphatemia and lack of active vitamin D. Due to increased urinary calcium excretion, patients with ADH are at high risk for kidney stones, nephrocalcinosis and the development of renal insufficiency. Recently, rhPTH 1-84 has been available for the treatment of hypoparathyroidism. However, long-term data is still lacking to provide a safe indication, considering potential effects and side effects.
Topics: Calcium; Calcium Metabolism Disorders; Calcium, Dietary; Humans; Hypoparathyroidism; Vitamin D
PubMed: 31416104
DOI: 10.1055/a-0833-9674