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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 -
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 -
Frontiers in Endocrinology 2023The diluting and concentrating function of the kidney plays a crucial role in regulating the water homeostasis of the body. This function is regulated by the... (Review)
Review
The diluting and concentrating function of the kidney plays a crucial role in regulating the water homeostasis of the body. This function is regulated by the antidiuretic hormone, arginine vasopressin through the type 2 vasopressin receptor (V2R), allowing the body to adapt to periods of water load or water restriction. Loss-of-function mutations of the V2R cause X-linked nephrogenic diabetes insipidus (XNDI), which is characterized by polyuria, polydipsia, and hyposthenuria. Gain-of-function mutations of the V2R lead to nephrogenic syndrome of inappropriate antidiuresis disease (NSIAD), which results in hyponatremia. Various mechanisms may be responsible for the impaired receptor functions, and this review provides an overview of recent findings about the potential therapeutic interventions in the light of the current experimental data.
Topics: Receptors, Vasopressin; Vasopressins; Mutation; Water; Molecular Biology
PubMed: 37293495
DOI: 10.3389/fendo.2023.1173601 -
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 -
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 -
Journal of Avian Medicine and Surgery Apr 2024Diabetes mellitus (DM) is an uncommon, poorly documented metabolic disorder of birds. Extrapolating knowledge from DM in mammals is challenging because of marked... (Review)
Review
Diabetes mellitus (DM) is an uncommon, poorly documented metabolic disorder of birds. Extrapolating knowledge from DM in mammals is challenging because of marked differences in avian physiology and metabolism. A literature review from December 1991 to January 2022 identified 14 publications covering 16 diabetic birds, 63% (10/16) of which belonged to the order Psittaciformes with as the predominant genus. No sex predilection was noted, but males generally presented at a younger age. Commonly reported clinical signs included polyuria 94% (15/16), polydipsia 88% (14/16), weight loss 75% (12/16), lethargy 63% (10/16), and polyphagia 38% (6/16). Diagnosis of DM was based on the presence of clinical signs and persistent hyperglycemia 100% (16/16), often with glucosuria 93% (13/14), response to insulin therapy 80% (8/10), and pancreatic pathology 90% (9/10). Specific treatment for DM was initiated in 14 patients, but blood glucose regulation for 6 months or longer was only achieved in 6 birds. Five of the regulated birds were managed with injectable long-acting insulin and 1 with oral glipizide combined with dietary modifications. However, glipizide yielded poor results in other cases, likely attributable to a lack of functional beta cells. Three diabetic birds progressed to remission. Treatment proved unsuccessful for 7 patients with a mean survival time of 36 days from diagnosis. One patient was lost to follow-up, and 2 were euthanized immediately following diagnosis. Histological examination of the pancreas frequently (90%, 9/10) revealed abnormalities including atrophy, fibrosis, and vacuolization of the endocrine islets with or without lymphoplasmacytic pancreatitis. Comorbidities, including hemosiderosis and infection, were common. This review suggests that birds diagnosed with DM are primarily affected by a type I diabetes as observed in dogs and humans. In contrast to mammalian species, avian DM is often associated with underlying disease and a complete clinical workup is essential to diagnose and address secondary disease conditions prior to initiating long-term insulin therapy.
Topics: Animals; Bird Diseases; Birds; Diabetes Mellitus
PubMed: 38686885
DOI: 10.1029/AVIANMS-D-22-00057 -
BMJ Case Reports Feb 2023The clinical presentation of diabetic ketoacidosis (DKA) includes nausea, vomiting, thirst, polyuria, polydipsia, abdominal pain, tachypnoea, and change in mental status...
The clinical presentation of diabetic ketoacidosis (DKA) includes nausea, vomiting, thirst, polyuria, polydipsia, abdominal pain, tachypnoea, and change in mental status in cases of severe DKA. DKA is similar in pregnant and non-pregnant women, but in pregnant women it can be seen at lower serum glucose levels and symptoms may develop more rapidly. Most, but not all, cases occur in the second or third trimester.DKA results in reduction in uteroplacental blood flow due to osmotic diuresis, and also in metabolic abnormalities (maternal acidosis, hyperglycaemia, electrolyte imbalance), resulting in fetal hypoxaemia and acidosis. In fetuses with mature cardiac activity, the fetal heart rate may show minimal or absent variability, repetitive deceleration and absence of acceleration. These abnormalities in heart rate usually resolve with resolution of the DKA, which may last for several hours before normalisation.For the patient reported on here, immediate delivery based on pathological fetal heart rate would have resulted in preterm delivery and jeopardised the maternal clinical condition. However, a holistic clinical approach by the multidisciplinary team to management of the patient led to normal term delivery 5 weeks after presentation with DKA; fetal and maternal outcome were good.
Topics: Infant, Newborn; Pregnancy; Humans; Female; Diabetic Ketoacidosis; Pregnancy in Diabetics; Fetus; Polydipsia; Pregnancy Trimester, Third; Diabetes Mellitus
PubMed: 36792143
DOI: 10.1136/bcr-2022-253198 -
American Journal of Ophthalmology Case... Jun 2022To report a case of hypertensive granulomatous anterior uveitis in the setting of IgG4-related disease (IgG4-RD).
PURPOSE
To report a case of hypertensive granulomatous anterior uveitis in the setting of IgG4-related disease (IgG4-RD).
OBSERVATIONS
A 69-year-old man presented with no light perception vision in both eyes and bilateral granulomatous anterior uveitis with iris neovascularization and hyphema in the right eye. He also demonstrated concurrent polyuria, polydipsia, and altered mental status, and was diagnosed with new-onset diabetes mellitus. MRI revealed no orbital abnormalities, but showed bilateral occipital strokes attributed to hyperglycemic hyperosmolar syndrome. Chest CT revealed pleural-based nodules and mediastinal and abdominal lymphadenopathy, and a liver biopsy confirmed fibroinflammatory nodules with increased IgG4 positive plasma cell infiltrates, diagnostic of IgG4-RD. Serum IgG4 levels were 1381 mg/dL. The patient was treated with a combination of systemic and topical steroids, and later initiated on rituximab.
CONCLUSION AND IMPORTANCE
IgG4-related ophthalmic disease may present as an isolated hypertensive granulomatous anterior uveitis without associated scleral or orbital involvement.
PubMed: 35274064
DOI: 10.1016/j.ajoc.2022.101465 -
Reviews in Endocrine & Metabolic... Jun 2024Arginine vasopressin deficiency (AVP-D) is one of the main entities of the polyuria-polydipsia syndrome. Its correct diagnosis and differentiation from the other two... (Review)
Review
Arginine vasopressin deficiency (AVP-D) is one of the main entities of the polyuria-polydipsia syndrome. Its correct diagnosis and differentiation from the other two causes - AVP resistance and primary polydipsia - is crucial as this determines the further management of these patients.Over the last years, several new diagnostic tests using copeptin, the stable surrogate marker of AVP, have been introduced. Among them, hypertonic saline stimulated copeptin was confirmed to reliably and safely improve the diagnostic accuracy to diagnose AVP-D. Due to its simplicity, arginine stimulated copeptin was put forward as alternative test procedure. Glucagon-stimulated copeptin also showed promising results, while the oral growth hormone secretagogue Macimorelin failed to provide a sufficient stimulus. Interestingly, an approach using machine learning techniques also showed promising results concerning diagnostic accuracy.Once AVP-D is diagnosed, further workup is needed to evaluate its etiology. This will partly define the further treatment and management. In general, treatment of AVP-D focuses on desmopressin substitution, with oral formulations currently showing the best tolerance and safety profile. However, in addition to desmopressin substitution, recent data also showed that psychopathological factors play an important role in managing AVP-D patients.
Topics: Humans; Arginine Vasopressin; Polyuria; Polydipsia; Deamino Arginine Vasopressin; Glycopeptides
PubMed: 38087160
DOI: 10.1007/s11154-023-09862-w -
Handbook of Clinical Neurology 2021Diabetes insipidus (DI) is a syndrome characterized by the persistent excretion of abnormally large volumes of dilute urine. It can be caused by any of four... (Review)
Review
Diabetes insipidus (DI) is a syndrome characterized by the persistent excretion of abnormally large volumes of dilute urine. It can be caused by any of four fundamentally different abnormalities: deficient production of the antidiuretic hormone, arginine vasopressin (AVP) by magnocellular neurons that form the posterior pituitary (hypothalamic DI); impaired renal effects of AVP (nephrogenic DI); reduced AVP secretion due to excessive water intake (primary polydipsia); or degradation of AVP by placental vasopressinase (gestational DI). Each type of DI can be caused or potentiated by other disorders. Hypothalamic and nephrogenic DI can also be caused by mutation of the gene that encodes the AVP prohormone, the AVP-2 receptors in the kidney, or the aquaporin-2 water channels that mediate antidiuresis. Familial hypothalamic DI is usually transmitted in an autosomal dominant mode, but autosomal recessive or X-linked recessive forms also exist. Familial nephrogenic DI is usually transmitted in an X-linked recessive mode but can also be autosomal recessive or dominant. Hence the mode of inheritance does not always indicate the type of DI. Indirect methods of differential diagnosis are also unreliable and the pituitary MRI signal is diminished in both types of familial DI. Thus the determination of plasma AVP and/or the response to desmopressin therapy plus gene sequencing provides the best basis for effective management and family counseling.
Topics: Diabetes Insipidus; Diabetes Insipidus, Nephrogenic; Diabetes Mellitus; Diagnosis, Differential; Female; Humans; Placenta; Pregnancy; Receptors, Vasopressin
PubMed: 34238460
DOI: 10.1016/B978-0-12-820683-6.00017-8