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Medicina (Kaunas, Lithuania) Sep 2023: Bartter syndrome (BS) is a rare group of autosomal-recessive disorders that usually presents with hypokalemic metabolic alkalosis, occasionally with hyponatremia and... (Review)
Review
: Bartter syndrome (BS) is a rare group of autosomal-recessive disorders that usually presents with hypokalemic metabolic alkalosis, occasionally with hyponatremia and hypochloremia. The clinical presentation of BS is heterogeneous, with a wide variety of genetic variants. The aim of this systematic review was to examine the available literature and provide an overview of the case reports and case series on BS. : Case reports/series published from April 2012 to April 2022 were searched through Pubmed, JSTOR, Cochrane, ScienceDirect, and DOAJ. Subsequently, the information was extracted in order to characterize the clinical presentation, laboratory results, treatment options, and follow-up of the patients with BS. : Overall, 118 patients, 48 case reports, and 9 case series ( = 70) were identified. Out of these, the majority of patients were male ( = 68). A total of 21 patients were born from consanguineous marriages. Most cases were reported from Asia (73.72%) and Europe (15.25%). In total, 100 BS patients displayed the genetic variants, with most of these being reported as Type III ( = 59), followed by Type II ( = 19), Type I ( = 14), Type IV ( = 7), and only 1 as Type V. The most common symptoms included polyuria, polydipsia, vomiting, and dehydration. Some of the commonly used treatments were indomethacin, potassium chloride supplements, and spironolactone. The length of the follow-up time varied from 1 month to 14 years. : Our systematic review was able to summarize the clinical characteristics, presentation, and treatment plans of BS patients. The findings from this review can be effectively applied in the diagnosis and patient management of individuals with BS, rendering it a valuable resource for nephrologists in their routine clinical practice.
Topics: Humans; Male; Female; Bartter Syndrome; Potassium; Hyponatremia; Spironolactone; Europe
PubMed: 37763757
DOI: 10.3390/medicina59091638 -
Clinical Endocrinology Dec 2023Primary polydipsia is characterized by excessive fluid intake which may suppress vasopressin levels. It is speculated that suppressed vasopressin levels lead to a... (Observational Study)
Observational Study
OBJECTIVE
Primary polydipsia is characterized by excessive fluid intake which may suppress vasopressin levels. It is speculated that suppressed vasopressin levels lead to a dysregulated hypothalamic-pituitary-adrenal (HPA) axis as vasopressin co-modulates the HPA axis. However, data are contradictory. The aim of this study was to investigate markers of the HPA axis in patients with primary polydipsia compared to healthy controls.
DESIGN
Exploratory analysis combining data from two different prospective observational studies.
PATIENTS
We included 34 patients with primary polydipsia (68% females, median aged 29.5 years (interquartile range, IQR: 26.0, 38.8) and 20 healthy controls (55% females, median age 24.0 years [IQR: 22.0, 27.2]).
MEASUREMENTS
The main outcome was difference in HPA axis activity assessed using circadian serum and salivary cortisol, 24-h urinary free cortisol and cortisol levels before and after adrenocorticotropic hormone (ACTH) stimulation; vasopressin suppression was assessed measuring fasting copeptin levels between patients with primary polydipsia and healthy controls using Wilcoxon rank-sum test.
RESULTS
No difference was seen in circadian serum cortisol levels (p = .9), urinary free cortisol levels (p = .17) and serum cortisol in response to ACTH stimulation (p = .77) between groups. Circadian salivary cortisol levels were significantly lower in patients with primary polydipsia compared to healthy controls with an estimated difference of -3.7 nmol/L (95% CI: -5.5, -1.8 nmol/L, p < .001). Fasting copeptin levels were significantly lower in patients with primary polydipsia compared to healthy volunteers (p < 0.01).
CONCLUSION
Our results suggest no difference in HPA axis activity between patients with primary polydipsia and healthy controls. The observed difference in salivary cortisol levels may be linked to a dilution effect in saliva rather than an altered stress axis considering the other findings.
Topics: Female; Humans; Adult; Young Adult; Male; Hypothalamo-Hypophyseal System; Pituitary-Adrenal System; Hydrocortisone; Polydipsia, Psychogenic; Adrenocorticotropic Hormone; Vasopressins
PubMed: 36263471
DOI: 10.1111/cen.14835 -
Cureus Oct 2023Psychogenic polydipsia occurs during water or fluid intoxication and can lead to electrolyte disturbances, such as hyponatremia. Hyponatremia can give rise to signs and...
Psychogenic polydipsia occurs during water or fluid intoxication and can lead to electrolyte disturbances, such as hyponatremia. Hyponatremia can give rise to signs and symptoms, including lethargy, psychosis, seizures, or death. Psychogenic, or primary polydipsia, can be compared to other medical conditions that cause excessive thirst. This case report will focus on the symptoms, disease, and treatment involved in the care and hospitalization of a 30-year-old male patient who reported ingesting up to 40 liters of water a day for the last three years. This patient with psychogenic polydipsia, chronic schizophrenia, and active psychosis was diagnosed with metabolic encephalopathy secondary to severe hyponatremia (day one sodium level: 108 mEq/L). The management goal was to stabilize electrolytes and increase sodium levels without causing osmotic demyelination syndrome. During subsequent hospitalization, the psychiatry team worked towards the normalization of sodium levels and managed behavioral patterns contributing to water consumption. The patient achieved a normal sodium level on day 21 of inpatient psychiatric treatment with the following medication regimen: acetazolamide, candesartan, olanzapine, sodium chloride, and trazodone.
PubMed: 38021912
DOI: 10.7759/cureus.47719 -
Learning & Behavior Dec 2023The objective of this study was to evaluate the possible relationship between drinking (licks) in the schedule-induced polydipsia (SIP) phenomenon and running (turns in...
The objective of this study was to evaluate the possible relationship between drinking (licks) in the schedule-induced polydipsia (SIP) phenomenon and running (turns in the wheel) in the activity-based anorexia (ABA) one. Within-subjects counterbalanced experiments were designed with male Wistar rats which underwent both behavioral procedures; half of them performed the ABA procedure first and the other half the SIP procedure first. In Experiment 1, the initial development of ABA facilitated the subsequent acquisition of SIP, whereas the first acquisition of SIP retarded the subsequent development of ABA. Given that SIP exposure implied food restriction, it could be that adaptation to the food regime contributed to lowering ABA manifestation. Thus, Experiment 2 was carried out in exactly the same way as Experiment 1, with the exception that animals which first went through SIP prior to undergoing the ABA procedure had no food restriction. In this case, both ABA and SIP as first experiences facilitated the further development of SIP and ABA, respectively. This suggests that running in ABA may be functionally similar to drinking in SIP; therefore, both behaviors can be thought of as induced by the schedule/regime of intermittent food availability.
Topics: Humans; Rats; Male; Animals; Rats, Wistar; Anorexia; Polydipsia; Behavior, Animal
PubMed: 36604387
DOI: 10.3758/s13420-022-00560-2 -
Doklady. Biochemistry and Biophysics Oct 2023It was previously established that the original dipeptide mimetic of the 4th loop of NT-3, hexamethylenediamide bis-(N-monosuccinyl-L-asparaginyl-L-asparagine)...
It was previously established that the original dipeptide mimetic of the 4th loop of NT-3, hexamethylenediamide bis-(N-monosuccinyl-L-asparaginyl-L-asparagine) (GTS-301), has a pronounced neuroprotective effect in vitro at concentrations of 10-10 М. In the present study, experiments on the streptozotocin-induced diabetes model in C57Bl/6 mice showed that GTS-301, when administered intraperitoneally for 32 days at doses of 0.1 and 0.5 mg/kg, has antidiabetic activity manifested in a reduction of hyperglycemia and polydipsia and in an increase in animal survival. The results obtained confirm the concept of the similarity of neurochemical mechanisms underlying the regulation of functions of neurons and β-cells.
Topics: Mice; Animals; Dipeptides; Diabetes Mellitus, Experimental; Neurons; Neuroprotective Agents; Peptidomimetics
PubMed: 38093123
DOI: 10.1134/S1607672923700357 -
The Journal of International Medical... Nov 2023To provide an overview of reported cases of new-onset type 1 diabetes mellitus (T1D) following COVID-19 infection.
AIMS
To provide an overview of reported cases of new-onset type 1 diabetes mellitus (T1D) following COVID-19 infection.
METHODS
PubMed and Scopus library databases were screened for relevant case reports published between January 2020 and June 2022. Study design, geographic region or language were not restricted.
RESULTS
Twenty studies were identified and involved 37 patients (20 [54%] male, 17 [46%] female). Median age was 11.5 years (range 8 months-33 years) and 31 (84%) patients were aged ≤17 years. Most patients (33, 89%) presented with diabetic ketoacidosis (DKA). In total, 23 (62%) patients presented at the time of positive COVID-19 testing and 14 (38%) had symptoms consistent with COVID-19 infection or a previous positive test (1-56 days). Diabetes symptomatology was provided in 22 cases and (19, 86%) reported polyuria, polydipsia, polyphagia, fatigue, or weight loss or a combination of the aforementioned in the preceding weeks (3 days-12 weeks). Of the 28 patients that had data on acute and long-term treatment, all recovered well and most were managed with basal bolus insulin regimens. Quality assessment showed that most reports were either 'good' or 'moderate quality'.
CONCLUSIONS
Although uncommon, new-onset T1D is a condition healthcare professionals may expect to see following a COVID-19 infection.
Topics: Female; Humans; Infant; Male; COVID-19; COVID-19 Testing; Diabetes Mellitus, Type 1; Diabetic Ketoacidosis; Polyuria; Case Reports as Topic
PubMed: 37940619
DOI: 10.1177/03000605231210403 -
Journal of Psychiatric Research Aug 2023Lithium carbonate (LiCO) is a mainstay therapeutic for the prevention of mood-episode recurrences in bipolar disorder (BD). Unfortunately, its narrow therapeutic index...
Lithium carbonate (LiCO) is a mainstay therapeutic for the prevention of mood-episode recurrences in bipolar disorder (BD). Unfortunately, its narrow therapeutic index is associated with complications that may lead to treatment non-compliance. Intriguingly, lithium orotate (LiOr) is suggested to possess unique uptake characteristics that would allow for reduced dosing and mitigation of toxicity concerns. We hypothesized that due to differences in pharmacokinetics, LiOr is more potent with reduced adverse effects. Dose responses were established for LiOr and LiCO in male and female mice using an amphetamine-induced hyperlocomotion (AIH) model; AIH captures manic elements of BD and is sensitive to a dose-dependent lithium blockade. LiCO induced a partial block of AIH at doses of 15 mg/kg in males and 20 mg/kg in females. In contrast, LiOr elicited a near complete blockade at concentrations of just 1.5 mg/kg in both sexes, indicating improved efficacy and potency. Prior application of organic anion transport inhibitors, or inhibition of orotate uptake into the pentose pathway, completely blocked the effects of LiOr on AIH while sparing LiCO effects, confirming differences in transport and compartmentalization between the two compounds. Next, the relative toxicities of LiOr and LiCO were contrasted after 14 consecutive daily administrations. LiCO, but not LiOr, elicited polydipsia in both sexes, elevated serum creatinine levels in males, and increased serum TSH expression in females. LiOr demonstrates superior efficacy, potency, and tolerability to LiCO in both male and female mice because of select transport-mediated uptake and pentose pathway incorporation.
Topics: Male; Female; Mice; Animals; Lithium Carbonate; Mania; Bipolar Disorder; Lithium; Amphetamine; Disease Models, Animal; Antimanic Agents
PubMed: 37356352
DOI: 10.1016/j.jpsychires.2023.06.012 -
Journal of Ethnopharmacology Jan 2024Si Wei Jiang Huang Tang San (SWJHTS) is a traditional Tibetan medicine prescription for the treatment of urethritis, frequent urination, and urgency, composed of four...
ETHNOPHARMACOLOGICAL RELEVANCE
Si Wei Jiang Huang Tang San (SWJHTS) is a traditional Tibetan medicine prescription for the treatment of urethritis, frequent urination, and urgency, composed of four traditional Chinese medicines: Curcumae longae rhizoma, Berberidis cortex, Tribuli fructus, and Phyllanthi fructus. However, whether SWJHTS exhibits hypoglycemic efficacy and its specific mechanism remain unclear.
AIM OF THE STUDY
In this study, we aimed to investigate the anti-diabetic effects of SWJHTS and elucidate the underlying mechanism.
MATERIALS AND METHODS
HPLC-MS method was used to identify the key components of four kinds of traditional Chinese medicine (Curcumae longae rhizoma, Berberidis cortex., Tribuli fructus, and Phyllanthi fructus) which composed SWJHTS and determine their structure. Normal mice and 145 mg/kg STZ-induced type 1 diabetic mice were treated with three doses of SWJTHS by oral gavage. Body weight, 24h food and water intake, fasting blood glucose, glucose tolerance and other indicators were measured to evaluate the hypoglycemic effect of SWJHTS. OMIM, Genecards and other databases were used to collect targets of diabetes, and HPLC-MS results and TCMSP database information were used to collect drug component targets. Bioinformatics methods such as pathway enrichment analysis and molecular docking were used to predict the key targets of SWJHTS. The gene and protein expressions of HIF1α and ERK signaling pathways in HepG2 cells treated with SWJHTS were detected by RT-PCR and Western blot.
RESULTS
A total of 181 components were identified, including curcumin, palmatine, and berberine, etc. The in vivo studies showed that SWJHTS could significantly lower fasting blood glucose levels and improve the symptoms of polydipsia, polyphagia, and polyuria in diabetic mice. Furthermore, we identified HIF1α as the potential key target of SWJHTS against diabetes utilizing network pharmacology approach and in silico molecular docking. Subsequently, we experimentally confirmed that SWJHTS could suppress the high glucose-induced upregulation of HIF1α expression, which mediated the glucose consumption in HepG2 cells. The ERK signaling pathway was further found to be activated by the SWJHTS as the upstream of HIF1α.
CONCLUSIONS
SWJHTS can improve glucose metabolism by targeting the ERK/HIF1α signaling pathway; hence might be a prospective anti-diabetic drug for diabetic patients as traditional Tibetan medicine.
Topics: Humans; Animals; Mice; Blood Glucose; Diabetes Mellitus, Experimental; Molecular Docking Simulation; Network Pharmacology; Signal Transduction; Hypoglycemic Agents; Drugs, Chinese Herbal
PubMed: 37778519
DOI: 10.1016/j.jep.2023.117254 -
Animals : An Open Access Journal From... Oct 2023Hyperadrenocorticism (HAC) often leads to vacuolar hepatopathy. The impact of trilostane treatment on serum total bile acids (SBAs) concentrations in dogs with HAC...
Hyperadrenocorticism (HAC) often leads to vacuolar hepatopathy. The impact of trilostane treatment on serum total bile acids (SBAs) concentrations in dogs with HAC remains unknown. This study investigated SBAs concentrations in healthy dogs and those with HAC following trilostane therapy. Ten healthy dogs and fifteen dogs with HAC were prospectively enrolled. A biochemistry profile and pre- and post-prandial SBAs concentrations were determined in each dog. Dogs with HAC were reassessed at 1 and 3 months after the initiation of trilostane treatment. Dogs with HAC had significantly higher serum ALT, ALP, and GGT activities, and cholesterol, triglyceride, and pre-prandial SBAs concentrations compared to healthy dogs. After 3 months of trilostane treatment, polyuria/polydipsia and polyphagia were completely resolved in 42.8% and 35.7%, respectively. Significant improvements in serum ALT and ALP activities and cholesterol concentrations were observed within 1-3 months of trilostane treatment. However, pre- and post-prandial SBAs concentrations did not significantly decrease. These findings suggest that treatment with low-dose trilostane for 3 months appears to reduce serum liver enzyme activities, but not SBAs concentrations. Further investigation is warranted to explore the effects of low-dose trilostane treatment on SBAs concentrations for a longer duration or after achieving appropriate post-ACTH cortisol levels.
PubMed: 37893969
DOI: 10.3390/ani13203244 -
Hormone Research in Paediatrics 2024Diagnosis of central diabetes insipidus (CDI) remains challenging. Water deprivation testing and hypertonic saline infusion, as established diagnostic tests, are...
INTRODUCTION
Diagnosis of central diabetes insipidus (CDI) remains challenging. Water deprivation testing and hypertonic saline infusion, as established diagnostic tests, are mentally and physically demanding for patients. Arginine-stimulated copeptin has been shown as a putative parameter for the differential diagnosis of CDI in adults.
METHODS
In this single-centre retrospective study, we identified paediatric patients with suspected pituitary disorders who underwent standard arginine testing. Patients with CDI, matched controls, and primary polydipsia (PP) were identified. Diagnoses were confirmed retrospectively using comprehensive clinical and diagnostic characteristics. Serum copeptin concentrations were measured using a commercially available automated immunofluorescence assay (B.R.A.H.M.S Copeptin-proAVP KRYPTOR®) in samples stored for a median of 4.6 years (1.3-10.84) and collected before and 60 min after arginine infusion. Cut-off analyses were performed using ROC curves.
RESULTS
Serum samples from 32 patients with CDI, 32 matched controls, and 5 patients with PP (n = 69; 51 males, 18 females) were available for analysis. Median copeptin concentrations increased from 4.47 pmol/L (interquartile range [IQR]: 3.47-8.36) to 6.96 pmol/L (IQR: 4.51-12.89; p < 0.001) in controls, from 1.46 pmol/L (IQR: 1.21-2.12) to 1.44 (IQR: 1.10-1.87; p = 0.645, ns) in CDI, and from 4.40 pmol/L (3.95-6.33) to 9.58 pmol/L (8.19-11.42; p < 0.001) in PP. The published cut-off value of 3.8 pmol/L revealed a sensitivity of 100% and a specificity of 86.5% in confirming CDI.
CONCLUSION
Our results suggest that arginine-stimulated serum copeptin concentrations are a sensitive and specific diagnostic tool for CDI in paediatric patients, which may replace and simplify the conventional diagnostic pathway of water deprivation testing and hypertonic saline infusion.
Topics: Humans; Glycopeptides; Male; Female; Child; Arginine; Adolescent; Retrospective Studies; Diabetes Insipidus, Neurogenic; Child, Preschool
PubMed: 37607514
DOI: 10.1159/000532015