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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 -
The Journal of the Association of... May 2024Secondary spontaneous pneumothoraces occur in patients with known underlying lung disease. Patients with emphysema, bullae, and cystic lesions in the lungs are at high...
Secondary spontaneous pneumothoraces occur in patients with known underlying lung disease. Patients with emphysema, bullae, and cystic lesions in the lungs are at high risk of developing pneumothorax. Cystic lung diseases like Langerhans cell histiocytosis (LCH) can present with complications like pneumothorax. Other common presenting features include maculopapular rashes and bone lesions. It can also be associated with endocrinopathies, most commonly central diabetes insipidus (CDI). We here present a case of a 22-year-old male who presented with pneumothorax, polyuria, and polydipsia. He was diagnosed with LCH on transbronchial lung biopsy, associated with CDI, and was treated with thoracoscopy-guided autologous blood patch for persistent air leak and subcutaneous cytarabine.
Topics: Humans; Histiocytosis, Langerhans-Cell; Male; Pneumothorax; Young Adult; Diabetes Insipidus; Diabetes Insipidus, Neurogenic
PubMed: 38881118
DOI: 10.59556/japi.72.0541 -
Clinical Chemistry and Laboratory... Jun 2024
PubMed: 38860967
DOI: 10.1515/cclm-2024-0626 -
Pituitary Jun 2024Copeptin efficiently predicts post-neurosurgical central diabetes insipidus (CDI) in patients with hypothalamic-pituitary lesions, but its role in characterizing changes...
PURPOSE
Copeptin efficiently predicts post-neurosurgical central diabetes insipidus (CDI) in patients with hypothalamic-pituitary lesions, but its role in characterizing changes in diuresis in individuals with acromegaly undergoing neurosurgery remains unexplored. Our study aimed to assess changes in postoperative fluid balance in acromegaly patients and correlate them with both copeptin and growth hormone (GH) levels.
METHODS
This was a secondary analysis of a prospective study involving 15 acromegaly patients undergoing endoscopic endonasal resection at our University Hospital. Fluid balance was assessed daily, and copeptin and GH levels were evaluated preoperatively (T0), and serially on the morning of the first (T2) and second (T3) postoperative day, with an additional measurement of copeptin one hour post-extubation (T1). Patients with pre-existing or post-neurosurgical CDI were excluded from the analysis.
RESULTS
Most patients (11/15) exhibited a negative fluid balance on the second postoperative day, with 4 developing polyuria. Postoperative GH levels did not differ significantly between polyuric and non-polyuric patients, but GH measured at T2 correlated significantly with negative total balance (r = -0.519, p = 0.048). Copeptin levels at T1 were significantly higher in those who developed polyuria (p = 0.013), and a copeptin value > 39.9 pmol/L at T1 showed excellent ability (Sensitivity 100%, Specificity 90.9%, p < 0.001) in predicting postoperative polyuria. Additionally, polyuric patients exhibited a higher T1 / T3 copeptin ratio (p = 0.013) and a negative fluid balance was associated with the remission of acromegaly at 12 months (p = 0.046).
CONCLUSION
The early assessment of copeptin, in addition to facilitating the rapid identification of individuals at increased risk of developing CDI, could also allow the recognition of subjects with a tendency towards non-pathological polyuria in the postoperative setting, at least in individuals affected by acromegaly.
PubMed: 38847919
DOI: 10.1007/s11102-024-01407-x -
Annals of Medicine and Surgery (2012) Jun 2024Bartter syndrome is an autosomal recessive salt reabsorption disorder that results in decreased extracellular fluid volume with low/normal blood pressure.
BACKGROUND
Bartter syndrome is an autosomal recessive salt reabsorption disorder that results in decreased extracellular fluid volume with low/normal blood pressure.
CASE PRESENTATION
A 17-year-old boy with polydipsia, polyuria, weakness in the lower limbs, and ataxic gait. His Laboratory test shows hypokalemia; hypochloremia, hypomagnesemia and metabolic alkalosis. The authors' patient was managed by fluid and electrolyte replacement, which is essential in emergency management.
CONCLUSION
Bartter syndrome is difficult to treat, and currently, there is no complete cure. The overall prognosis depends on the extent of receptor dysfunction, and despite these facts, most patients can live a normal life if they strictly follow their treatment plan.
PubMed: 38846905
DOI: 10.1097/MS9.0000000000001994