Electrolytic disorders in children

Adrenocortical insufficiency, also known as adrenal insufficiency (AI), is an endocrine disorder characterized by inadequate production of adrenal hormones, including glucocorticoids and mineralocorticoids (MCs). The condition can be categorized as primary, secondary, or tertiary AI, depending on the location of the defect. Classical symptoms of AI include weakness, fatigue, abdominal pain, tachycardia, hypotension, electrolyte imbalances, and hyperpigmentation. In children, the most common cause of AI is classical congenital adrenal hyperplasia, which results from a deficiency in the 21-hydroxylase enzyme...

BACKGROUND: Neurological impairment (NI) relates to disorders of the central nervous system. The specific aetiology of NI varies but includes genetic, congenital abnormalities or brain injury. In children with severe NI, feeding impairments can lead to undernutrition, and some children require a feeding tube. Although tube feeding improves overall nutritional status, it has also been associated with excess body fat. Commercially available enteral formulas that are low in energy, hydrolysed and nutritionally adequate for protein and micronutrients are available to mitigate gastrointestinal symptoms and obesity...

Pediatric hypoparathyroidism is an uncommon endocrine disease that can be either isolated or syndromic. It occurs when the secretion of parathormone is insufficient to maintain normal levels of ionized calcium. Patients with hypoparathyroidism can exhibit cerebral calcifications and metabolic disorders, and the severity of such features is inversely correlated with hypocalcemia. We report a case of a 13-year-old patient who was initially diagnosed with epilepsy by another medical team two years before her admission to our hospital and who was subjected to oral valproate therapy...

Sanjad-Sakati syndrome is a rare autosomal recessive genetic disorder that presents solely in Arabian people. Our case was reported from the Fallujah Teaching Hospital for Women and Children in Fallujah, Iraq. This syndrome is associated with hypoparathyroidism, growth retardation, atypical facial appearance, and a variable degree of mental retardation. It is usually caused by genetic mutations of the tubulin-folding cofactor E (TBCE; 604934), which is located on the 1q42.3 chromosome. This case was confirmed by a genetic study which revealed a pathogenic variant in the homozygous state in the TBCE gene...

The World Health Organization estimates that 31 foodborne pathogen account for 600 million cases of illness annually. This study, conducted in a pediatric emergency department in Turkey, addresses the limited research on pediatric foodborne diseases (FD) in the country, exposing a significant knowledge gap. Analyzing 17,091 pediatric cases, 106 FD cases were identified, predominantly affecting boys (94.3%) with an average age of 7.65 ± 6.51 years. Remarkably, no patients required pediatric intensive care admission, and no mortalities were recorded...

BACKGROUND: Therapeutic plasma exchange (TPE) is a procedure involving the filtration of a patient's plasma to eliminate pathogenic components or address deficiencies. This technique finds varied indications in the pediatric age group, particularly in neuroinflammatory diseases. OBJECTIVES: The objective of this study is to delve into our local experience with TPE, focusing on indications, outcomes, and complications among children with neurological diseases at King Abdulaziz University Hospital (KAUH) in Jeddah, Saudi Arabia...

PURPOSE: Pectus excavatum (Pectus) repair may be offered for those with significant cardiopulmonary compromise or severe cosmetic defects. The influence of hospital center volume on postoperative outcomes in children is unknown. This study aimed to investigate the outcomes of children undergoing Pectus repair, stratified by hospital surgical volume. METHODS: The Nationwide Readmission Database was queried (2016-2020) for patients with Pectus (Q67.6). Patients were stratified into those who received repair at high-volume centers (HVCs; ≥20 repairs annually) versus low-volume centers (LVCs; <20 repairs annually)...

Background. The Dutch guideline Eating Disorders defines admission criteria for children with anorexia nervosa (AN) in need for medical stabilization and advices close monitoring to detect refeeding syndrome (RFS) in an early stage. Methods . Admission criteria, recommendations at admission, and during first week of hospitalization were evaluated in accordance to the guideline. RFS was defined as decreased electrolyte concentrations and/or clinical features. Results. 22 patients were included with a total of 50 admissions...

Children with salt-wasting adrenal insufficiency are managed with glucocorticoid and mineralocorticoid replacement. Measurement of renin activity or concentration alongside blood electrolyte levels is used to monitor the adequacy of mineralocorticoid replacement. Our unit changed from using renin activity to renin concentration and carried out a service review to assess whether this influenced decision-making for fludrocortisone dosing. In total, 50 measurements of plasma renin activity and 50 of renin concentration were analysed on separate cohorts before and after the assay change, with values standardised to multiples of the upper limit of normal (MoU) to allow comparison between assays...

Postural orthostatic tachycardia syndrome (POTS) affects children and adolescents-normally fit and well and yet troubled by a myriad of everyday symptoms. Understanding the pathophysiology of this not uncommon disorder together with a review of the clinical features may well assist the attending clinicians to arrive at a clear diagnosis without the need for extensive testing and multiple investigations. Simple lifestyle measures such as increasing fluid intake, electrolyte and/or salt supplements, adequate sleep, not missing out on meals and instituting an exercise programme to improve muscle tone and strength may avoid the need of pharmacological management...

OBJECTIVES: To study the clinical profile and role of metabolic evaluation in children aged 3 mo to 2 y with global developmental delay (GDD) of unclear etiology. METHODS: In this prospective study, demographic and clinical data along with first line metabolic test results [blood glucose, arterial blood sample analysis, renal function tests, uric acid, serum electrolytes, liver function tests (LFTs), plasma ammonia, arterial blood lactate and pyruvate, urine ketone/ reducing substances] were documented and analyzed...

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...

X-linked adrenoleukodystrophy (X-ALD; OMIM:300100) is a progressive neurodegenerative disorder caused by a congenital defect in the ATP-binding cassette transporters sub-family D member 1 gene (ABCD1) producing adrenoleukodystrophy protein (ALDP). According to population studies, X-ALD has an estimated birth prevalence of 1 in 17.000 subjects (considering both hemizygous males and heterozygous females), and there is no evidence that this prevalence varies among regions or ethnic groups. ALDP deficiency results in a defective peroxisomal β-oxidation of very long chain fatty acids (VLCFA)...

Congenital chloride diarrhea (CCD) is a rare but significant genetic disorder characterized by severe electrolyte imbalances resulting from impaired intestinal chloride absorption. Affected children experience persistent diarrhea, dehydration, and malnutrition, complicating medical and developmental care. The enhancement of prenatal detection is crucial for improved patient management, early interventions, and informed genetic counseling. However, despite advancements in medicine, the complex nature and rarity of CCD make prenatal detection challenging...

BACKGROUND: Tubular dysfunction can cause electrolyte disturbances with potentially serious consequences. We studied the epidemiology and outcomes of electrolyte disturbances and tubular dysfunction among critically ill children and evaluated their relationships with acute kidney injury (AKI). METHODS: We conducted a prospective cohort study recruiting children aged 1 month to ≤ 18 years old admitted to the pediatric intensive care unit (PICU) from 6/2020 to 6/2021...

PURPOSE: To determine whether hypercapnia is associated with risk of hospital readmission related to anorexia nervosa (AN) in children and adolescents. METHODS: We performed a prospective study of patients ≤ 18 years old admitted due to AN decompensation from November 2018 to October 2019. Both subtypes of AN, restricting subtype (AN-R) and binge-eating/purging subtype (AN-BP), were included. Study participants were evaluated upon admission, at discharge and six months after discharge...

Congenital nephrogenic diabetes insipidus (CNDI), a rare hereditary disorder, is characterized by the inability of the kidneys to concentrate urine in response to the antidiuretic hormone arginine vasopressin (AVP); as a result, large volumes of unconcentrated urine are excreted. In addition to the clinical manifestations of CNDI, such as dehydration and electrolyte disturbances (hypernatremia and hyperchloremia), developmental delay can result without prompt treatment. In approximately 90% of cases, CNDI is an X-linked disease caused by mutations in the arginine vasopressin receptor 2 ( AVPR2 ) gene...

BACKGROUND: In the United States, racial disparities in health outcomes continue to be a major problem with far-reaching effects on equity in healthcare and public health. Children and teenagers with type 1 diabetes are a disadvantaged demographic that has particular difficulties in managing their condition and getting access to healthcare. Despite improvements in the treatment of diabetes, little study has examined how much racial disparities in in-hospital mortality affect this particular demographic...

UNLABELLED: There is limited information available on the clinical data, sweat test trends, and outcomes of individuals with cystic fibrosis (CF) who present with an isolated episode of hypoelectrolytemia with metabolic alkalosis (HMA). This study describes a cohort of Italian individuals with HMA as presenting symptom. The study is a retrospective multicenter analysis of individuals who presented with HMA as an initial symptom and was followed at 8 Italian CF Centers, from March 1988 to March 2022...

Refeeding syndrome (RS) is characterized by electrolyte imbalances that can occur in malnourished and abruptly refed patients. Typical features of RS are hypophosphatemia, hypokalemia, hypomagnesemia, and thiamine deficiency. It is a potentially life-threatening condition that can affect both adults and children, although there is scarce evidence in the pediatric literature. The sudden increase in food intake causes a shift in the body's metabolism and electrolyte balance, leading to symptoms such as weakness, seizures, and even heart failure...