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Pituitary Jun 2024
PubMed: 38940860
DOI: 10.1007/s11102-024-01419-7 -
Acta Paediatrica (Oslo, Norway : 1992) Jun 2024To investigate the role of autonomic nervous system in subpopulations of children with enuresis.
AIM
To investigate the role of autonomic nervous system in subpopulations of children with enuresis.
METHODS
We included 35 children with enuresis, divided in children with (17) and without nocturnal polyuria (18) and 43 healthy controls. For all participants hormones and neurotransmitters were measured. Patients and controls wore a sleep tracker device and children with enuresis underwent a 24 h blood pressure monitoring, nocturnal urine output measurement and uroflowmetry.
RESULTS
Children with enuresis had lower than controls copeptin and aldosterone, with the latter being more prominent in patients without nocturnal polyuria. Dopamine was lower in patients without nocturnal polyuria compared with patients with nocturnal polyuria. Children without polyuria experienced episodes only during NREM sleep, whereas in children with polyuria episodes occurred in both REM and NREM sleep. Children with enuresis experienced a non-dipping phenomenon during sleep which was more prominent in the group without polyuria.
CONCLUSION
In patients with nocturnal polyuria, nocturnal enuresis is associated with sympathetic hyperactivity which results in pressure polyuria and significantly lower systolic dipping during sleep. On the contrary, in children without nocturnal polyuria, it is mostly associated with bladder overactivity due to parasympathetic overstimulation as demonstrated by the NREM-related enuretic episodes and the lower aldosterone and dopamine levels.
PubMed: 38940196
DOI: 10.1111/apa.17338 -
Cureus May 2024Vasopressin infusion is commonly used in intensive care settings during states of advanced vasodilatory shock for its vasoconstrictive properties. Vasopressin also acts...
Vasopressin infusion is commonly used in intensive care settings during states of advanced vasodilatory shock for its vasoconstrictive properties. Vasopressin also acts on renal tubular cell receptors in the collecting ducts of kidneys to allow for water reabsorption. The sudden discontinuation of vasopressin infusion can lead to the development of transient diabetes insipidus (DI) with classic findings of polyuria, dilute urine, and hypernatremia. We report the case of a 59-year-old male who underwent an emergent bedside cricothyrotomy procedure secondary to papillary carcinoma of the thyroid and subsequently developed septic shock requiring initiation of vasopressin infusion for hemodynamic support. He remained on vasopressin for five days before the infusion was discontinued after clinical improvement. Within 12 hours of vasopressin discontinuation, the patient developed polyuria (> 3 L/day urine output) with volumes as high as 1 L per hour. His serum sodium levels increased more than 10 mmol/L from 137 to 149 mmol/L. This case is unique from prior reports, as our patient was without any neurological or neurosurgical comorbidities that would predispose him to an organic central cause of DI. Furthermore, the patient's large-volume diuresis and serum abnormalities spontaneously self-improved within 24 hours without significant medical intervention. In conclusion, this case adds to a growing number of reports of transient DI following vasopressin withdrawal, demonstrating the need to formally recognize this occurrence as a potential consequence of vasopressin use in intensive care settings.
PubMed: 38939271
DOI: 10.7759/cureus.61253 -
Acta Clinica Belgica Jun 2024Sarcoidosis is a multi-system granulomatous disease of unknown origin. It is mainly thought of as a lung disease but it can affect any organ system. Sinus and endocrine...
OBJECTIVES
Sarcoidosis is a multi-system granulomatous disease of unknown origin. It is mainly thought of as a lung disease but it can affect any organ system. Sinus and endocrine dysfunctions are described but are rare and seldomly linked with sarcoidosis.
METHODS
Here we describe a case of a young Caucasian man who already visited multiple care givers for sinusitis, erectile dysfunction and anorexia. He presented at the emergency department with fever and emaciation, polyuria and polydipsia. The results of the blood sampling revealed a hypercalcaemia as well as abnormal thyroid function.
RESULTS
After biochemical, radiological and histopathological workup, he was diagnosed with pulmonary sarcoidosis. Treatment with corticosteroids resulted in resolution of the sinusitis and normalisation of the calcemia, as well as the thyroid function while the impotence, polydipsia and polyuria remained. Elaboration revealed extra-pulmonary involvement of the sarcoidosis with dysfunction of the hypothalamic-pituitary axis with hypogonadotropic hypogonadism and diabetes insipidus due to a sellar mass.
CONCLUSION
This is a rare case of systemic sarcoidosis with both thoracic and extra thoracic manifestations, with pituitary and sinus involvement. It shows that sarcoidosis can affect any organ system and diagnosis can be difficult in case of extrapulmonary manifestations.
PubMed: 38934586
DOI: 10.1080/17843286.2024.2366714 -
Clinical Nephrology Jun 2024The polyuria and polydipsia state in diabetes insipidus (DI) can be challenging to manage for patients and clinicians with significant impact on the patients'...
The polyuria and polydipsia state in diabetes insipidus (DI) can be challenging to manage for patients and clinicians with significant impact on the patients' well-being. A review of literature shows that nonsteroidal anti-inflammatory drugs (NSAIDs), thiazide and potassium-sparing diuretics, along with low dietary solute and protein, and high water intake remain the standard medical therapy. Although these therapeutic approaches improve symptoms, the urine-concentrating defect is still considerable, posing a serious risk to patient's life from hypovolemia if high fluid intake is not maintained. Our case describes the challenges faced with the medical management of a patient with nephrogenic DI that was only partially responsive to standard medical therapy, resulting in debilitating effects on the patient's quality of life.
PubMed: 38916496
DOI: 10.5414/CN111366 -
Indian Journal of Endocrinology and... 2024We aimed to describe the clinical, biochemical and etiological profile of patients referred with a provisional diagnosis of rickets in tertiary care centres. In...
INTRODUCTION
We aimed to describe the clinical, biochemical and etiological profile of patients referred with a provisional diagnosis of rickets in tertiary care centres. In addition, we tried to propose a diagnostic algorithm for the evaluation of such patients.
METHODS
This was a retrospective cross-sectional study conducted in two tertiary care centres of West Bengal. Data of patients were retrieved between 2014 and 2021.
RESULTS
Out of 101 children, 22 had conditions simulating rickets. Renal tubular acidosis (RTA) was the most common (53.2%) etiology of rickets, followed by phosphopenic rickets (PR) (22.8%) and calcipenic rickets (CR) (17.7%). The prevalence of true nutritional rickets (NR) was only 8.9%. Children with RTA had a significantly higher prevalence of chronic ill health (69%) and polyuria (95.2%). Weight standard deviation score (SDS) and body mass index (BMI) SDS scores were significantly lower in the RTA group compared to others. Around 90.5% of children with RTA, and none in the other groups, had hypokalemia. Biochemically, hypophosphatemia and elevated alkaline phosphatase (ALP) were present in all patients with PR and CR. Compared to CR, median serum phosphate was significantly lower in the PR group. A significant difference in ALP values was noticed in patients with hypophosphatemia (815 ± 627 IU/L) compared to those without (279 ± 204 IU/L). Plasma parathyroid hormone (PTH) of 100 pg/ml seemed useful to differentiate CR from other forms.
CONCLUSION
NR is uncommon in tertiary care centres. Children with rickets should be approached systematically with the estimation of ALP, phosphorus, creatinine, calcium, PTH and 25-hydroxy vitamin D to reach an etiological diagnosis.
PubMed: 38911108
DOI: 10.4103/ijem.ijem_221_23 -
Cureus May 2024The COVID-19 pandemic with the outbreak of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) virus has been one of the largest topics of discussion in the...
The COVID-19 pandemic with the outbreak of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) virus has been one of the largest topics of discussion in the medical world over the last few years. Most of the research has focused on the risks and correlation of chronic diseases and immunosuppression with the severity and mortality of the viral infection. Less research has occurred in the setting of post-infectious sequelae and the long-term effects of COVID-19 with the development of chronic conditions and diseases, such as new-onset type 1 diabetes mellitus. The incidence of diabetic ketoacidosis (DKA) has increased during the COVID-19 pandemic, but the relationship between the two conditions remains to be fully understood. We report the case of a 24-year-old male who presents with malaise, polyuria, polydipsia, headache, and fatigue and was eventually found to be in diabetic ketoacidosis (DKA). He had a history of COVID-19 infection 12 weeks prior to this presentation. He also had a family history of DKA and type 1 diabetes mellitus. This case highlights the need to perform an in-depth workup for each patient with DKA and new-onset diabetes mellitus in order to find a potential cause of the autoimmune condition.
PubMed: 38903308
DOI: 10.7759/cureus.60711 -
Journal of Clinical Laboratory Analysis Jun 2024Nephronophthisis-4 (NPHP4) is an inherited renal ciliopathy described by renal fibrosis and progressive impairment of kidney function. This study aimed to investigate...
BACKGROUND
Nephronophthisis-4 (NPHP4) is an inherited renal ciliopathy described by renal fibrosis and progressive impairment of kidney function. This study aimed to investigate the genetic basis and clinical manifestations of NPHP4 in two Iranian siblings.
METHODS
The proband was a 27-year-old male with features of end-stage renal disease, including anemia, uremia, polyuria, and polydipsia. It is worth mentioning that he has a 22-year-old sister with a similar presentation. Clinical diagnosis procedures, such as renal biopsy, brain imaging, blood and urine tests, cardiac evaluation, ophthalmic inspection, and auditory function assessment, were carried out to evaluate organ involvement and potential comorbidities. Whole-exome sequencing (WES) and segregation analysis were performed to identify and confirm genetic variants associated with the condition. Computational variant analysis was conducted to evaluate the pathogenicity of the candidate variant. Furthermore, the SWISS-MODEL server was utilized for protein modeling.
RESULTS
The brain, cardiac, ocular, and auditory functions were normal. Renal biopsy of the proband showed chronic interstitial inflammation and fibrosis. We found a novel homozygous 7-base pair deletion (c.2999_3005delTGTGTGT/ p.Asn1000SerfsTer4) in exon 21 of NPHP4 by WES. Segregation analysis confirmed homozygosity for the NPHP4 variant in affected individuals and heterozygous carrier status in parents, supporting autosomal recessive inheritance. 3D protein modeling indicated significant structural changes due to the variant.
CONCLUSION
This study expands the genetic causes and phenotypic spectrum of nephronophthisis-4 and reveals the importance of genetic analysis in diagnosing and managing rare inherited kidney disorders, particularly those involving consanguinity.
PubMed: 38895833
DOI: 10.1002/jcla.25077 -
The American Journal of Case Reports Jun 2024BACKGROUND Bartter syndrome is a rare, inherited salt-wasting tubulopathy caused by mutations in 1 of 6 genes that express ion transport channels in the thick ascending...
BACKGROUND Bartter syndrome is a rare, inherited salt-wasting tubulopathy caused by mutations in 1 of 6 genes that express ion transport channels in the thick ascending limb of nephrons. Excessive prostaglandin E2 and associated hyperreninemic hyperaldosteronism occurs, causing polyhydramnios, polyuria, prematurity, failure to thrive, and characteristic physical features. Hypokalemia, hypochloremic metabolic alkalosis, and, depending on the affected gene, hypercalciuria and nephrocalcinosis are hallmarks of Bartter syndrome. CASE REPORT A 9-month-old male infant, born prematurely due to polyhydramnios, presented in the Emergency Department with dehydration due to incoercible vomiting and significant polyuria. A 6-year-old male infant with a previous history of prematurity due to polyhydramnios was referred to the Pediatric Endocrinology Department due to short stature and notable polydipsia and polyuria. Considering these marked symptoms, both cases triggered suspicion and started workup for arginine-vasopressin insufficiency/resistance. However, during the investigations, a broader clinical revision revealed that both had dysmorphic physical features (triangularly shaped face, prominent forehead, protruding ears, drooping mouth), poor growth, impaired weight gain, and typical biochemical findings (hypokalemic metabolic alkalosis, hypercalciuria, secondary hyperaldosteronism) of Bartter syndrome. Genetic testing confirmed the diagnosis of Bartter syndrome types 1 and type 2, respectively, and this diagnosis allowed proper treatment and significant clinical improvements, personalized follow-up, and genetic counseling for parents desiring further healthy pregnancies. CONCLUSIONS Here, we present clinical and follow-up findings of 2 patients with Bartter syndrome types 1 and 2 discovered upon a broader clinical revision of suspected arginine-vasopressin insufficiency/resistance. We also review pertinent data on diagnosis and management of this challenging syndrome.
Topics: Humans; Bartter Syndrome; Male; Infant; Child; Arginine Vasopressin
PubMed: 38885190
DOI: 10.12659/AJCR.942872 -
Journal of Veterinary Internal Medicine Jun 2024Options for treatment of diabetes mellitus in cats are limited to insulin injections and monitoring for hypoglycemia.
Efficacy and safety of once daily oral administration of sodium-glucose cotransporter-2 inhibitor velagliflozin compared with twice daily insulin injection in diabetic cats.
BACKGROUND
Options for treatment of diabetes mellitus in cats are limited to insulin injections and monitoring for hypoglycemia.
HYPOTHESIS
Once daily sodium-glucose cotransporter-2 inhibitor velagliflozin PO is noninferior to insulin injections.
ANIMALS
Client-owned diabetic cats (127 safety; 116 efficacy assessment).
METHODS
Prospective, randomized (1 mg/kg velagliflozin), positive controlled (titrated Caninsulin), open label, noninferiority field trial, comparing number of cats with treatment success in ≥1 clinical variable and ≥1 glycemic variable (margin Δ: 15%) on Day 45; secondary endpoints included glycemic and clinical assessments during 91 days.
RESULTS
On Day 45, 29/54 (54%) velagliflozin-treated cats and 26/62 (42%) Caninsulin-treated cats showed treatment success, demonstrating noninferiority (difference -11.8%; upper 1-sided 97.5% confidence interval, -∞ to 6.3%). By Day 91, quality of life (QoL), polyuria, and polydipsia had improved in 81%, 54% and 61% (velagliflozin); on blood glucose (BG) curves, mean BG was <252 mg/dL in 42/54 (78%; velagliflozin) and 37/62 (60%; Caninsulin); minimum BG was <162 mg/dL in 41/54 (76%; velagliflozin) and 41/62 (66%; Caninsulin); serum fructosamine was <450 μmol/L in 41/54 (76%; velagliflozin) and 38/62 (61%; Caninsulin). Velagliflozin's most frequent adverse events were loose feces/diarrhea (n = 23/61, 38%), positive urine culture (n = 19/61, 31%), and nonclinical hypoglycemia (BG <63 mg/dL; n = 8/61, 13%); Caninsulin's: clinical and nonclinical hypoglycemia (n = 35/66, 53%), positive urine culture (n = 18/66, 27%), and loose feces/diarrhea (n = 10/66, 15%). Diabetic ketoacidosis occurred in 4/61 (7%; velagliflozin) and 0/66 (Caninsulin).
CONCLUSIONS AND CLINICAL IMPORTANCE
Once daily oral administration of velagliflozin was noninferior to insulin injections, showed good QoL and glycemia without clinical hypoglycemia.
PubMed: 38884190
DOI: 10.1111/jvim.17124