Electrolyte Imbalance Research Articles

Growth hormone deficiency in the neurocritical patient

Growth hormone (GH) is synthesized in the anterior pituitary, but its production and release are controlled by two neurohormones found in the hypothalamus: somatostatin and growth hormone-releasing hormone (GHRH). GH supports bone growth, regeneration of neurons, astrocytes, endothelial cells, oligodendrocytes, and even neuronal myelination. It is also responsible for stimulating the growth and differentiation of cells from different tissues and cell types, thereby contributing to protein synthesis. Original research papers, case reports, and case series on GH deficiency among neurocritical patients were thoroughly examined in this review. After extensive study, 13 articles were selected for the analysis. Traumatic lesions are defined by distortion of the brain tissue and subsequent biochemical modifications, which can affect GH secretion. The majority of researchers identified fractures, trauma, and bleeding as the mechanical causes of GH deficiency, and subarachnoid haemorrhage (SAH) or traumatic brain injury (TBI) as the etiology. The dysregulation of certain other hormones, including ACTH, Cortisol, Gonadotropin, Prolactin, FSH, TSH, Testosterone, and Hydrocortisone is also related to GH insufficiency. Growth hormone deficiency can cause complications such as hypothyroidism, hypotension, hypoxia, adrenal insufficiency, electrolyte imbalance, hyperprolactinemia, depression, anxiety, concussions, seizures, vomiting, and loss of consciousness. According to previous studies, GH insufficiency is significantly affected by age, body mass index (BMI), pituitary dysfunction, and hypogonadism. GH treatment is widely used in patients with GH deficiency, as it has more benefits than harm. The GH dose should be individualized to minimize side effects and maximize clinical efficacy.

Management of diabetic ketoacidosis in internal medicine: insulin protocols, electrolyte balance, and clinical outcomes

Diabetic ketoacidosis (DKA) is a critical complication of diabetes mellitus (DM), characterized by hyper-glycemia, acidosis, and ketosis. It poses a substantial risk of morbidity and mortality, especially in type 1 DM patients. DKA can be triggered by various factors, including insulin deficiency, infections, alcohol abuse, and other medical conditions. Hospital admissions for DKA are increasing, with mortality rates of up to 5-9%, often linked to severe underlying illnesses and complications such as myocardial infarction and stroke. Effective DKA management involves rehydration, correction of electrolyte imbalances, insulin administration, and addressing precipitating factors. Fluid resuscitation with isotonic saline is vital to restore hydration, and continuous intravenous insulin infusion is the preferred method to control blood glucose and suppress ketone production. Electrolyte imbalances, particularly potassium, sodium, phosphate, and magnesium, require careful monitoring and correction. Clinical outcomes in DKA management include resolving acidosis, normalizing blood glucose, and restoring electrolyte balance, all while achieving and maintaining clinical stability. Complications like cerebral edema and acute respiratory distress syndrome can significantly impact the prognosis. Long-term considerations encompass diabetes management, patient education, and follow-up care.

Isotonic balanced fluid versus 0.9% saline in patients with moderate to severe traumatic brain injury: A double-blinded randomised controlled trial

Background and importanceTraumatic brain injury (TBI) is a global health concern with significant economic impact. Optimal fluid therapy aims to restore intravascular volume, maintain cerebral perfusion pressure and blood flow, thus preventing secondary brain injury. While 0.9% saline (NS) is commonly used, concerns about acid-base and electrolyte imbalance and development of acute kidney injury (AKI) lead to consideration of balanced fluids as an alternative. ObjectivesThis study aimed to compare the outcomes of patients with moderate to severe TBI treated with Sterofundin (SF) versus NS. Design, settings and participantsA double-blinded randomised controlled trial of patients aged 18 to 65 years with TBI was conducted at the University Malaya Medical Centre from February 2017 to November 2019. Intervention or exposurePatients were randomly assigned to receive either NS or SF. The study fluids were administered for 72 h as continuous infusions or boluses. Participants, investigators, and staff were blinded to the fluid type. Outcomes measure and analysisThe primary outcome was in-hospital mortality. Relative risk (RR) with 95% confidence interval (CI) was calculated. Main resultsA total of 70 patients were included in the analysis, with 38 in the NS group and 32 in the SF group. The in-hospital mortality rate were 3 (7.9%) in the NS group vs. 4 (12.5%) in the SF group, RR = 1.29 (95% CI, 0.64 to 2.59; p = 0.695). No patients developed AKI and required renal replacement therapy. ICP on day 3 was significantly higher in the SF group (18.60 ± 9.26) compared to 12.77 ± 3.63 in the NS group, (95% CI, −11.46 to 0.20; p = 0.037). There were no significant differences in 3-day biochemical parameters and cerebral perfusion pressure, ventilator-free days, length of ICU stay, or Glasgow Outcome Scale-Extended (GOS-E) score at 6 months. ConclusionsIn patients with moderate to severe TBI, the use of SF was not associated with reduced in-hospital mortality, development of AKI, or improved 6-month GOS-E when compared to NS.

Central diabetes insipidus after transnasal adenomectomy:trends in development and recovery, clinical and laboratory characteristics

Background: Currently, there is an increase in the incidence of chiasmosellar neoplasms and respective neurosurgical interventions. The postoperative period may be complicated by vasopressin synthesis and secretion disorders. Both the development and abortion of the fluid and electrolyte disorders can be delayed. Due to a tendency for an earlier discharge of the patients, a proportion of the disorders remain unaddressed. There is no data on the evolution and time to regress of transient abnormalities in the published studies with a long-term postoperative follow-up.
 Aim: To assess the incidence, evolution and regression trends, clinical and laboratory characteristic of postoperative central diabetes insipidus (CDI).
 Materials and methods: The single center retrospective comparative study included 150 patients who had undergone transnasal adenomectomy for Cushings disease, acromegaly, prolactinomas, and hormonally inactive pituitary adenomas. Clinical and laboratory assessments were performed pre- and postoperatively. In the event of CDI, treatment with desmopressin was administered. Ninety six (96) patients aged 20 to 65 years (median age 43 [35; 54] years) were followed for at least 60 months after the procedure.
 Results: Median time to the onset of permanent CDI (pCDI) was Day 5 [1; 9.5] after surgery, that of transient CDI (tCDI) Day 1 [1; 4.5] with its remission by Day 30 [1.5; 199]. The maximally delayed onset was on Day 86 for the pCDI and Day 61 for tCDI; that to the remission of tCDI, 738 days. At discharge from the hospital, postoperative CDI was present in 34/150 patients (23%; 95% CI 1730), and in 25/150 of the patients (16%; 95% CI 1224) the disorder resolved. At 5 to 7 years after surgery, the prevalence of pCDI was 16% (95% CI 1024), that of tCDI 35% (95% CI 2745), 49% (95% CI 3959) of the patients had no abnormalities (respective absolute patient numbers being 15, 34, and 47 of 96 followed for at least 60 months). At Days 1 to 7 after surgery, the patients with pCDI and tCDI had more frequent complaints of dry mouth and thirst than those without the disorder. These complaints were verified by higher 24-hour fluid intake and diuresis at the day of surgery and Days 5 to 7 thereafter, compared to those in the patients without the disorders. At Days 57 after surgery, urine sodium and urine specific gravity were significantly lower, as was urine osmolality at all postoperative stages, compared to those in the patients without the disorders.
 Conclusion: Within 2 years after transnasal adenomectomy, the incidence of postoperative CDI is gradually decreasing (from 23% to 16%). Due to potentially delayed manifestation of water and electrolyte imbalance, it is recommended that these parameters should be monitored at least for 2,5 months after the discharge from hospital. Due to potentially delayed remission (12 months and more), follow-up and monitoring for 1.5 years is reasonable, with periodic assessment of sodium levels, fluid intake and excretion, and attempts to withdraw desmopressin.

Evaluating Nutritional Risk Factors for Delirium in Intensive-Care-Unit Patients: Present Insights and Prospects for Future Research.

Malnutrition, hypercatabolism, and metabolic changes are well-established risk factors for delirium in critically ill patients. Although the exact mechanisms are not fully understood, there is mounting evidence suggesting that malnutrition can cause a variety of changes that contribute to delirium, such as electrolyte imbalances, immune dysfunction, and alterations in drug metabolism. Therefore, a comprehensive metabolic and malnutrition assessment, along with appropriate nutritional support, may help to prevent or ameliorate malnutrition, reduce hypercatabolism, and improve overall physiological function, ultimately lowering the risk of delirium. For this aim, bioelectrical impedance analysis can represent a valuable strategy. Further research into the underlying mechanisms and nutritional risk factors for delirium is crucial to developing more effective prevention strategies. Understanding these processes will allow clinicians to personalize treatment plans for individual patients, leading to improved outcomes and quality of life in the intensive-care-unit survivors.

Accuracy of Diagnosing Diabetic Ketoacidosis (DKA), Hyperosmolar Hyperglycemic State (HHS), and DKA-HHS: The Significance for Cardiac Function

BackgroundDiabetic Ketoacidosis (DKA) and Hyperosmolar Hyperglycemic State (HHS) are severe complications of diabetes. DKA is characterized by high blood glucose, low blood bicarbonate, and high BOHB, while HHS is associated with high serum osmolality. DKA-HHS is a combination of both, which can lead to a higher mortality rate due to acidosis, electrolyte imbalances, and suboptimal IVF replacement causing cardiac injury. This study aims to determine the accuracy of the initial ED diagnosis of DKA and identify patients with HHS or DKA-HHS among those initially diagnosed with DKA. MethodsIn this retrospective, single-site study, 20 adult patients who were consecutively admitted in January 2023 with a diagnosis of DKA were re-evaluated using BMP, serum osmolality, and BOHB to determine their actual diagnosis. The diagnostic error rate was calculated, and chi-square analysis was used to compare categorical variables. ResultsUpon re-evaluation of laboratory values, 15 patients (75%) were confirmed to have DKA, 4 patients (20%) had HHS, and 1 patient (5%) had DKA-HHS. The diagnostic error rate was 25% (p<0.05), with 5 of the 20 patients misdiagnosed with DKA. ConclusionThis retrospective, single-site study suggests that the ED admitting diagnosis of DKA was incorrect in 25% of 20 subjects. This finding supports the hypothesis that the ED may fail to properly diagnose HHS or DKA-HHS. Therefore, further research is necessary to evaluate the efficacy of educating diabetic patients and ED staff on DKA, HHS, and DKA-HHS diagnostic criteria in preventing misdiagnosis and cardiac injury with the ultimate goal of improving diabetic patient care.

Hidden in Plain Sight: The Association of Cystic Fibrosis and Diabetic Ketoacidosis- A Nationwide Study

BackgroundIn recent times, the relationship between cystic fibrosis (CF) and diabetic ketoacidosis (DKA) has garnered growing interest within the medical community. This study aims to investigate the cardiovascular(CV) outcomes and economic ramifications associated with CF patients with DKA,using the United States National Readmission Database(NRD). Methods and ResultsWe examined data from 2016-2020 and excluded patients under the age of 4, identifying 73,125 hospitalizations for cystic fibrosis (CF). Of these,9.18% (n=6,719) were diagnosed with diabetic ketoacidosis (DKA). The DKA cohort had a higher mean age (43 years,SD-18.5 vs 29 years,SD-16.3;p=0.000). Baseline-comorbidities were shown in Figure1. DKA in CF has been identified as a predictor for all-cause-mortality[OR2.3,95%CI 1.8-3,p= 0.000], Acute kidney Injury(AKI)[OR 2.99,95%CI 2.65-3.37,p=0.000], Congestive-Heart-Failure(CHF)[OR 5.36,95%CI 4.58-6.27,p=0.000], Stroke [OR 4.93,95%CI 2.97-8.18,p=0.000], Myocardial infarction(MI)[OR 5.06,95%CI 3.20-8.00,p=0.000], SCA [OR 2.82,95%CI 1.77-4.49,p=0.000], Mechanical-Circulatory-Support(MCS)[OR 2.00,95%CI 1.07-3.75,p=0.030], Major-adverse-cardiovascular-and-cerebrovascular-events(MACCE)[OR 2.95,95%CI 2.35-3.69, p=0.000], Figure-2. In terms of economic impact, CF patients with DKA experienced a higher average inflation-adjusted hospitalization cost ($113,635-vs-$102,622,p=0.0144). However, the difference in the mean length of hospitalization was not clinically meaningful (7.9-vs-8.4 days,p=0.0137). ConclusionsAdverse CV outcomes and increased mortality in DKA patients with CF are influenced by metabolic stress, electrolyte imbalances, inflammation, co-existing comorbidities, and reduced lung function. These factors heighten the cardiovascular risk, requiring attentive monitoring and management by healthcare providers. Enhanced research efforts are essential to comprehensively understand the CF-DKA relationship, paving the way for more effective strategies to manage cardiovascular risks and improve patient outcomes.

Prevention of OHSS

Ovarian hyperstimulation syndrome (OHSS), perhaps the most serious complication arising from in vitro fertilization (IVF), is rare but life-threatening in some cases. In this lecture, we will first delve into the pathophysiology of OHSS and hallmark features such as hemoconcentration, hypercoagulability, electrolyte imbalances, fluid loss into third space, and renal insufficiency. In addition, clinical vignettes will illustrate some of the most severe cases of OHSS. Next, various methods for identifying patients at high risk of OHSS will be discussed. Available literature indicates that younger age and polycystic ovarian syndrome (PCOS) may be associated with the incidence of OHSS. Ovarian reserve markers such as anti-müllerian hormone (AMH) and antral follicle counts (AFC) have been suggested as useful screening tools. Also, stimulation cycle profiles, such as developing multiple follicles, peak serum estradiol levels, and the number of retrieved oocytes, may aid in identifying those at high risk. To lower the incidence of OHSS, modifying controlled ovarian stimulation (COS) protocols is essential. Evidence suggests that gonadotropin-releasing hormone (GnRH) antagonist protocol is beneficial in reducing the risk of OHSS. Medications such as dopamine agonists, aspirin, and metformin may be associated with lower risk while using clomiphene citrate remains controversial. “Coasting,” which is holding gonadotropins for several days to decrease the OHSS risk, has been suggested as another strategy. Triggering could be done differently using a GnRH agonist. Cycle segmentation by cryopreserving oocytes and embryos is also a feasible option. Close monitoring and early detection of symptoms are essential for prompt intervention and management of OHSS. By implementing preventative measures and closely monitoring patients, physicians may reduce the incidence and severity of OHSS and ensure safer fertility treatments.

Re-evaluation of erythritol (E 968) as a food additive.

This opinion addresses the re-evaluation of erythritol (E 968) as food additive and an application for its exemption from the laxative warning label requirement as established under Regulation (EU) No 1169/2011. Erythritol is a polyol obtained by fermentation with Moniliella pollinis BC or Moniliella megachiliensis KW3-6, followed by purifications and drying. Erythritol is readily and dose-dependently absorbed in humans and can be metabolised to erythronate to a small extent. Erythritol is then excreted unchanged in the urine. It does not raise concerns regarding genotoxicity. The dataset evaluated consisted of human interventional studies. The Panel considered that erythritol has the potential to cause diarrhoea in humans, which was considered adverse because its potential association with electrolyte and water imbalance. The lower bound of the range of no observed adverse effect levels (NOAELs) for diarrhoea of 0.5 g/kg body weight (bw) was identified as reference point. The Panel considered appropriate to set a numerical acceptable daily intake (ADI) at the level of the reference point. An ADI of 0.5 g/kg bw per day was considered by the Panel to be protective for the immediate laxative effect as well as potential chronic effects, secondary to diarrhoea. The highest mean and 95th percentile chronic exposure was in children (742 mg/kg bw per day) and adolescents (1532 mg/kg bw per day). Acute exposure was maximally 3531 mg/kg bw per meal for children at the 99th percentile. Overall, the Panel considered both dietary exposure assessments an overestimation. The Panel concluded that the exposure estimates for both acute and chronic dietary exposure to erythritol (E 968) were above the ADI, indicating that individuals with high intake may be at risk of experiencing adverse effects after single and repeated exposure. Concerning the new application, the Panel concluded that the available data do not support the proposal for exemption.

Influence of electrolyte imbalance on regional wall motion abnormalities in STEMI patients of North Indian origin

Assessing regional wall motion abnormalities (RWMA) in the myocardium may provide early diagnosis and treat chronic remodeling in STEMI patients. We assessed RWMA in 217 subjects with anterior STEMI admitted to Era University Hospital in Lucknow, UP, India. Besides abnormalities in the LAD territory, sub-sets of patients exhibited diffuse regional myocardial dysfunction. Interestingly, variations in serum electrolytes, specifically sodium and potassium, significantly affected the distribution and frequency of RWMA. Notably, RWMA occurred in the basal septum, apical septum, apex, and lateral wall in the anterior STEMI group. Additionally, the rate of regional dysfunction varied with serum urea and creatinine levels. This suggests that anterior STEMI can manifest myocardial abnormalities beyond the LAD territory. These findings indicate that ST-segment elevation might not be specific, possibly influenced by electrolyte changes affecting cardiac rhythm. Therefore, diagnosing and correcting region-specific wall motion abnormalities and electrolyte imbalances may improve outcomes in STEMI patients.

Hypokalemia

Low concentration of potassium in the blood serum, apparently, is the most common electrolyte imbalance in clinical practice. If hypokalemia is understood as a condition in which the potassium content in the blood is below 3.6 mmol/l, then the violation is detected in more than 20% of hospitalized patients. In most of these patients, the concentration of potassium in the blood serum is in the range of 3.0–3.5 mmol/l, but approximately 25% of them have this value below 3.0 mmol/l. There are no comparable data for outpatient patients, although a low concentration of potassium in the blood serum is determined in 10-40% of patients taking thiazide diuretics. People who are otherwise healthy usually tolerate hypokalemia well, but with a pronounced degree it can be life-threatening. Even mild or moderate hypokalemia increases the risk of morbidity and mortality in patients with cardiovascular diseases. In this regard, when hyperkalemia is detected, its cause should be determined and treatment should be carried out to eliminate it.

Electrolyte imbalance in short bowel syndrome

Electrolyte imbalance in short bowel syndrome

Extracorporeal membrane oxygenation treatment for severe asthma had unexpected adverse effects: a case report

Asthma, a chronic respiratory ailment, affects millions worldwide. Extracorporeal membrane oxygenation (ECMO) has gained traction as a life-saving intervention for patients with severe asthma who are unresponsive to conventional treatments. However, complications associated with ECMO, including electrolyte imbalances and hemorrhage, can have significant clinical implications. This case report highlights a 49 years-old male patient with severe asthma who developed pronounced hypokalemia and hemorrhage following venovenous ECMO (VVECMO) therapy. Despite potassium supplementation, serum potassium levels continued declining before normalizing after 24 h. The patient subsequently experienced gastrointestinal bleeding, cerebral hemorrhage, and extensive cerebral infarction, ultimately resulting in a deep coma. Hypokalemia during ECMO therapy can result from a rapid reduction of carbon dioxide, β-receptor agonist use, corticosteroid use, and diuretic administration. Hemorrhage is another common ECMO complication, often linked to heparin anticoagulation therapy. Clinicians should be aware of potential complications and adopt appropriate prevention and management strategies when using ECMO in patients with severe asthma.

The incidence and risk factors for abnormal postoperative blood tests following primary total joint replacement.

We aim to evaluate the usefulness of postoperative blood tests by investigating the incidence of abnormal results following total joint replacement (TJR), as well as identifying preoperative risk factors for abnormal blood test results postoperatively, especially pertaining to anaemia and acute kidney injury (AKI). This is a retrospective cohort study of patients who had elective TJR between January and December 2019 at a tertiary centre. Data gathered included age at time of surgery, sex, BMI, American Society of Anesthesiologists (ASA) grade, preoperative and postoperative laboratory test results, haemoglobin (Hgb), white blood count (WBC), haematocrit (Hct), platelets (Plts), sodium (Na+), potassium (K+), creatinine (Cr), estimated glomerular filtration rate (eGFR), and Ferritin (ug/l). Abnormal blood tests, AKI, electrolyte imbalance, anaemia, transfusion, reoperation, and readmission within one year were reported. The study included 2,721 patients with a mean age of 69 years, of whom 1,266 (46.6%) were male. Abnormal postoperative bloods were identified in 444 (16.3%) patients. We identified age (≥ 65 years), female sex, and ASA grade ≥ III as risk factors for developing abnormal postoperative blood tests. Preoperative haemoglobin (≤ 127 g/dl) and packed cell volume (≤ 0.395 l/l) were noted to be significant risk factors for postoperative anaemia, and potassium (≤ 3.7 mmol/l) was noted to be a significant risk factor for AKI. The costs outweigh the benefits of ordering routine postoperative blood tests in TJR patients. Clinicians should risk-stratify their patients and have a lower threshold for ordering blood tests in patients with abnormal preoperative haemoglobin (≤ 127 g/l), blood loss > 300 ml, chronic kidney disease, ASA grade ≥ III, and clinical concern.

High Output External Biliary Drainage Leading to Acute Kidney Injury in a Patient with Malignant Obstructive Jaundice: A Rare Case Report

Most patients with malignant obstructive jaundice present to the hospital in an advanced unresectable stage. Percutaneous transhepatic biliary drainage (PTBD) and stenting are the established , safe and effective way of palliative treatment aiming prolongation and improving the quality of the life. We report a rare case of high output external biliary drainage leading to AKI and electrolyte imbalance following insertion of PTB drain. Patient was managed with hemodialysis and subsequent self- expandable metallic stent (SEMS) placement. We highlight the importance of awareness of this complication and need of further studies regarding role of biliary interventions, associated complications and management.

Transsphenoid surgery outcomes in pituitary adenoma patients at Sumatera Utara University Hospital in 2022–2023: A prospective study

BackgroundAdenomas are common pituitary tumors, accounting for 10–15 % of all intracranial tumors. They are non-metastatic and benign, originating in the pituitary gland. The exact genetic mutations causing adenomas are not fully understood, but they involve tumor suppressor inactivator genes and protooncogene activator mutations. Transsphenoidal surgery is the preferred treatment for patients with neuro-ophthalmological symptoms to relieve pressure on the optic tract, resulting in visual improvement for around 80 % of patients. Surgery is recommended for patients with such symptoms or when the tumor invades the optic nerve. Risks of transsphenoidal surgery include diabetes insipidus, electrolyte imbalances, neurological deficits, and CSF rhinorrhea. Materials and methodsThis is a clinical trial study with a prospective cohort design to evaluate outcomes of pituitary adenoma patients who were undergone transsphenoid surgery at USU Hospital in 2022–2023. Total of 13 patients were included in the study. Preoperative and postoperative Na+, K+, and Cl− were measured to assess outcomes of transsphenoid surgery in pituitary adenoma patients. ResultVarious postoperative complications can be seen and be anticipated in transsphenoidal pituitary surgery. ConclusionWater and electrolyte imbalance is one of the most common complication found in patient who undergone transsphenoid surgery for pituitary adenoma. It can lead to secondary hospital admission and may be life-threatening if not treated adequately and immediately. Preoperative and postoperative laboratory Na+, K+, Cl− and urinary output are important parameters to be monitored in pituitary adenoma patient who undergone transsphenoid surgery.

Clinical characteristics and outcomes of an exogenous thyrotoxicosis epidemic in prison

IntroductionAn outbreak of exogenous thyrotoxicosis is an uncommon cause of thyrotoxicosis. This study aimed to investigate the characteristics and outcomes of exogenous thyrotoxicosis and electrolyte imbalance in a prison during...

Hypoglycaemia in adrenal insufficiency.

Adrenal insufficiency encompasses a group of congenital and acquired disorders that lead to inadequate steroid production by the adrenal glands, mainly glucocorticoids, mineralocorticoids and androgens. These may be associated with other hormone deficiencies. Adrenal insufficiency may be primary, affecting the adrenal gland's ability to produce cortisol directly; secondary, affecting the pituitary gland's ability to produce adrenocorticotrophic hormone (ACTH); or tertiary, affecting corticotrophin-releasing hormone (CRH) production at the level of the hypothalamus. Congenital causes of adrenal insufficiency include the subtypes of Congenital Adrenal Hyperplasia, Adrenal Hypoplasia, genetic causes of Isolated ACTH deficiency or Combined Pituitary Hormone Deficiencies, usually caused by mutations in essential transcription factors. The most commonly inherited primary cause of adrenal insufficiency is Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency; with the classical form affecting 1 in 10,000 to 15,000 cases per year. Acquired causes of adrenal insufficiency can be subtyped into autoimmune (Addison's Disease), traumatic (including haemorrhage or infarction), infective (e.g. Tuberculosis), infiltrative (e.g. neuroblastoma) and iatrogenic. Iatrogenic acquired causes include the use of prolonged exogenous steroids and post-surgical causes, such as the excision of a hypothalamic-pituitary tumour or adrenalectomy. Clinical features of adrenal insufficiency vary with age and with aetiology. They are often non-specific and may sometimes become apparent only in times of illness. Features range from those related to hypoglycaemia such as drowsiness, collapse, jitteriness, hypothermia and seizures. Features may also include signs of hypotension such as significant electrolyte imbalances and shock. Recognition of hypoglycaemia as a symptom of adrenal insufficiency is important to prevent treatable causes of sudden deaths. Cortisol has a key role in glucose homeostasis, particularly in the counter-regulatory mechanisms to prevent hypoglycaemia in times of biological stress. Affected neonates particularly appear susceptible to the compromise of these counter-regulatory mechanisms but it is recognised that affected older children and adults remain at risk of hypoglycaemia. In this review, we summarise the pathogenesis of hypoglycaemia in the context of adrenal insufficiency. We further explore the clinical features of hypoglycaemia based on different age groups and the burden of the disease, focusing on hypoglycaemic-related events in the various aetiologies of adrenal insufficiency. Finally, we sum up strategies from published literature for improved recognition and early prevention of hypoglycaemia in adrenal insufficiency, such as the use of continuous glucose monitoring or modifying glucocorticoid replacement.

Clinical and molecular features of four families with CLDN10-related HELIX syndrome

Biallelic pathogenic variants in CLDN10 cause the very rare and distinct multiplex epithelium dysfunction manifested by hypohidrosis and electrolyte imbalance (HELIX) syndrome. HELIX patients often present with heat intolerance and reduced tear secretion. Here, we report on eight new patients (four families) who presented soon after birth with fine scales in the palms and soles and hypohidrosis that was associated with high body temperature. Exome sequencing identified a novel homozygous pathogenic variant in CLDN10 in one family (NM_006984:exon1:c.138G>A:p.W46*) and a previously reported pathogenic founder variant in the other three (NM_006984:exon5:c.653del:P218Lfs*21). The detailed clinical reports of these patients and a review of previously reported patients further delineate the phenotype of this extremely rare disorder.

Evaluation of Electrolyte Imbalance on ICU Admission and Its Effect on Prognosis

Evaluation of Electrolyte Imbalance on ICU Admission and Its Effect on Prognosis