This article provides a comprehensive overview of electrolyte and water homeostasis in pediatric patients, focusing on some of the common serum electrolyte abnormalities encountered in clinical practice. Understanding pathophysiology, taking a detailed history, performing comprehensive physical examinations, and ordering basic laboratory investigations are essential for the timely proper management of these conditions. We will discuss the pathophysiology, clinical manifestations, diagnostic approaches, and treatment strategies for each electrolyte disorder. This article aims to enhance the clinical approach to pediatric patients with electrolyte imbalance-related emergencies, ultimately improving patient outcomes.Trial registration This manuscript does not include a clinical trial; instead, it provides an updated review of literature.
- Klíčová slova
- Electrolyte imbalances, Hypercalcemia, Hyperkalemia, Hypernatremia, Hypocalcemia, Hypokalemia, Hyponatremia, Pediatrics,
- MeSH
- acidóza diagnóza krev terapie MeSH
- dítě MeSH
- elektrolyty krev MeSH
- hyperkalcemie terapie krev diagnóza etiologie MeSH
- hyperkalemie terapie diagnóza krev etiologie MeSH
- hypernatremie terapie diagnóza etiologie patofyziologie MeSH
- hypokalcemie diagnóza etiologie terapie MeSH
- hypokalemie terapie diagnóza krev etiologie MeSH
- hyponatremie terapie etiologie diagnóza MeSH
- lidé MeSH
- náhlé příhody * MeSH
- poruchy acidobazické rovnováhy diagnóza terapie patofyziologie MeSH
- vodní a elektrolytová nerovnováha * terapie MeSH
- vodní a elektrolytová rovnováha fyziologie MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
- Názvy látek
- elektrolyty MeSH
Liddle syndrome is an inherited form of arterial hypertension with autosomal dominant pattern of inheritance. It is caused by activating mutation of genes coding of the epithelial sodium channel in distal nephron. Mutation leads to excessive reabsorbtion of sodium ions and volume expansion resulting in arterial hypertension. Antoher typical laboratory findings are hypokalaemia, low levels of serum aldosteron and metabolic alkalosis. Phenotypic variability makes it difficult to identify patients with Liddle syndrome, often resulting in misdiagnosis and severe complications at early age. Genetic studies should be done to confirm the diagnosis. Therapy of Liddle syndrome is based on administration of epithelial sodium channel blocker amilorid.
- Klíčová slova
- Aldosterone, Liddle syndrome, NEDD4, amilorid, arterial hypertension, epithelial sodium channel, hypokalaemia,
- MeSH
- epiteliální sodíkový kanál genetika metabolismus MeSH
- hypertenze * MeSH
- hypokalemie * diagnóza etiologie terapie MeSH
- Liddleův syndrom * diagnóza genetika terapie MeSH
- lidé MeSH
- mutace MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- Názvy látek
- epiteliální sodíkový kanál MeSH
Primary hyperaldosteronism (PA) is the most common cause of secondary arterial hypertension and is frequently undiagnosed. It affects all ages but is more frequent between 20 and 60 years old. The clinical presentation is variable, and the diagnosis is based on screening and, in equivocal cases, confirmatory tests. A 19-year-old student presented with complaints of extreme fatigue, arterial hypertension, hypokalemia and metabolic alkalosis, raising a high index of suspicion for PA. Screening tests were performed and its expressiveness excluded the need of confirmatory tests. CT-scan showed a unilateral adrenal adenoma and the patient was submitted to laparoscopic adenectomy without complications. Prompt diagnosis and treatment are essential to avoid long term complications of PA.
- Klíčová slova
- Conn syndrome, aldosterone-producing adenomas, hypertension, hypokalemia, primary hyperaldosteronism,
- MeSH
- adenom kůry nadledvin * diagnostické zobrazování patologie MeSH
- adrenalektomie metody MeSH
- adrenokortikální nádory * diagnostické zobrazování patologie MeSH
- alkalóza diagnóza etiologie MeSH
- hyperaldosteronismus * krev diagnóza patofyziologie chirurgie MeSH
- hypertenze * diagnóza etiologie MeSH
- hypokalemie * diagnóza etiologie MeSH
- lidé MeSH
- mladý dospělý MeSH
- počítačová rentgenová tomografie metody MeSH
- únava diagnóza etiologie MeSH
- výsledek terapie MeSH
- Check Tag
- lidé MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
BACKGROUND: The interaction between chronic medications on admission and the association between serum potassium level and outcome in patients with acute heart failure (AHF) are unknown. METHODS: Observational intercontinental study of patients admitted with AHF. 15954 patients were included from 12 cohorts in 4 continents. Main outcome was 90-day mortality. Clinical presentation (medication use, hemodynamics, comorbidities), demographic, echocardiographic, and biochemical data on admission were recorded prospectively in each cohort, with prospective adjudication of outcomes. RESULTS: Positive and negative linear relationships between 90-day mortality and sK+ above 4.5 mmol/L (hyperkalemia) and below 3.5 mmol/L (hypo-kalemia) were observed. Hazard ratio for death was 1.46 [1.34-1.58] for hyperkalemia and 1.22 [1.06-1.40] for hypokalemia. In a fully adjusted model, only hyperkalemia remained associated with mortality (HR 1.03 [1.02-1.04] for each 0.1 mmol/l change of sK+ above 4.5 mmol/L). Interaction tests revealed that the association between hyperkalemia and outcome was significantly affected by chronic medications. The association between hyperkalemia and mortality was absent for patients treated with beta blockers and in those with preserved renal function. CONCLUSIONS: In patients with AHF, sK+ > 4.5 mmol/L appears to be associated with 90-day mortality. B-blockers have potentially a protective effect in the setting of hyperkalemia.
- Klíčová slova
- B-blockers, Heart failure, Mortality, Potassium, Renal failure,
- MeSH
- akutní nemoc MeSH
- beta blokátory terapeutické užití MeSH
- biologické markery krev MeSH
- časové faktory MeSH
- draslík krev MeSH
- hyperkalemie etiologie mortalita prevence a kontrola MeSH
- hypokalemie etiologie mortalita prevence a kontrola MeSH
- lidé středního věku MeSH
- lidé MeSH
- míra přežití trendy MeSH
- následné studie MeSH
- prospektivní studie MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- srdeční selhání krev komplikace farmakoterapie MeSH
- výsledek terapie MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- multicentrická studie MeSH
- pozorovací studie MeSH
- Geografické názvy
- Evropa epidemiologie MeSH
- Spojené státy americké epidemiologie MeSH
- Názvy látek
- beta blokátory MeSH
- biologické markery MeSH
- draslík MeSH
The Gitelman syndrome (GS) is an autosomal recessive disorder characterized by hypokalemic metabolic alkalosis and presence of hypocalciuria and hypomagnesemia. It is one of the most common congenital "salt-wasting" tubulo-pathies, where the impairment of function of the Na+-Cl- cotransporter (NCCT) in the distal convoluted tubule is primary and hypokalemia secondary. Hypomagnesemia is caused by the impairment of magnesium reabsorption through TRPM6 channel which is located just by NCCT. Clinically, patients suffer from fatigue and hypotension due to loss of salt and water and also have cramps and tetany. In some patients chondrocalcinosis can be identified which leads to protracted pain and repeated aseptic inflammations in the joints. The course of the disease, though, is typically benign, and it rarely leads to structural changes in the kidneys or renal impairment. In the period of 2004-2006 we commenced examination of patients with suspected GS based on clinical and laboratory findings within a grant project in the Czech Republic, and in the following years this methodology was introduced to the common laboratory practice. By the year 2011 we had identified 7 different causal mutations in the gene SLC12A3 (4 of them new) among the Czech population, which is responsible for the origin of this disease. The majority of patients, whose clinical findings indicated the presence of GS, had the mutation actually detected, specifically in heterozygous form; 4 individuals were then homozygous. Most of the identified mutations were missense mutations and the most common type found among the Czech population was the change 1315 G>A within the geneSLC12A3, which causes impairment of glycosylation of the NCCT transporter. Further a great number of single-nucleotide polymorphisms were found that may be involved in clinical manifestation of the disease.Key words: gene mutation - gene sequence - Gitelman´s syndrome - NCC channel - PCR.
- MeSH
- Gitelmanův syndrom komplikace genetika MeSH
- hypokalemie etiologie MeSH
- ledviny MeSH
- lidé MeSH
- mutace MeSH
- mutační analýza DNA MeSH
- receptory léků MeSH
- rodina nosičů rozpuštěných látek 12, člen 3 * genetika fyziologie MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- Geografické názvy
- Česká republika MeSH
- Názvy látek
- receptory léků MeSH
- rodina nosičů rozpuštěných látek 12, člen 3 * MeSH
- SLC12A3 protein, human MeSH Prohlížeč
UNLABELLED: Hypokalaemia is a common electrolyte disorder in children, caused by decreased potassium intake, increased gastrointestinal and urinary losses or transcellular shift. Patients with severe hypokalaemia may suffer from symptoms such as life-threatening cardiac arrhythmias. The aim of our study was to review the aetiology of hypokalaemia, suggest a diagnostic algorithm and discuss the management of patients with various aetiologies of hypokalaemia. CONCLUSION: Understanding the pathophysiology of hypokalaemic states, along with a detailed medical history, physical examination and specific laboratory tests are required for proper diagnosis and appropriate treatment.
- Klíčová slova
- Bartter syndrome, Children, Gitelman syndrome, Hypokalaemia, Steroidogenesis disorders,
- MeSH
- dítě MeSH
- genetické nemoci vrozené komplikace MeSH
- hypokalemie diagnóza etiologie terapie MeSH
- lidé MeSH
- management nemoci MeSH
- onemocnění kůry nadledvin komplikace MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
BACKGROUND: Arrhythmias are one of the typical complications of primary aldosteronism (PA), is commonly characterized by hypertension and hypokalemia. CASE REPORT: In this report, we present 3 cases of subjects in whom primary aldosteronism manifested with life-threatening arrhythmias. In 2 subjects, after excluding organic heart disease, an implantable cardioverter defibrillator was inserted and, only after the second episode of polymorphic ventricular tachycardia accompanied with low plasma potassium levels, the diagnosis of primary aldosteronism was made. CONCLUSIONS: It is important to include diagnosis of primary aldosteronism in the diagnostic work-up of hypertensive subjects without any structural cardiovascular impairment who present with malignant arrhythmia and hypokalemia. Appropriate treatment of primary aldosteronism may avoid insertion of an implantable cardioverter defibrillator.
- MeSH
- defibrilátory implantabilní MeSH
- dospělí MeSH
- hyperaldosteronismus komplikace diagnóza MeSH
- hypertenze etiologie MeSH
- hypokalemie etiologie MeSH
- komorová tachykardie etiologie terapie MeSH
- lidé středního věku MeSH
- lidé MeSH
- srdeční arytmie etiologie terapie MeSH
- torsades de pointes etiologie terapie MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- práce podpořená grantem MeSH
- MeSH
- hypokalemie etiologie terapie MeSH
- lidé MeSH
- nemoci ledvin komplikace patofyziologie MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
The authors present a case of a 40-year-old female patient examined repeatedly in the course of 11 years and hospitalized on account of pain in the hypogastrium, subfebrile temperatures, watery diarrhoea, hypokaliaemic alkalosis, weakness, fatigue and loss of body weight. As to laboratory examinations hypokaliaemia, hyponatraemia, metabolic alkalosis, irregularly elevated CRP values and minor leucocytosis predominated. A weight loss of cca 8 kg along with a severe mineral deficiency and clinical symptomatology called for parenteral nutrition with a mean daily substitution of 240 mmol K and 200 mmol Na. Due to the clinical condition and non-specific results of graphic and histological examinations the possibility of a VIPoma was considered. This diagnosis was confirmed by laboratory examinations and clinically--after the onset of corticoid treatment marked improvement of the general condition occurred. Finally the authors discuss diagnostic and in particular therapeutic possibilities in this disease.
- MeSH
- diareogenní nádor komplikace diagnóza MeSH
- dospělí MeSH
- hypokalemie etiologie MeSH
- lidé MeSH
- nádory slinivky břišní komplikace diagnóza MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- anglický abstrakt MeSH
- časopisecké články MeSH
- kazuistiky MeSH
- MeSH
- dospělí MeSH
- hypokalcemie terapie MeSH
- hypokalemie etiologie terapie MeSH
- ileum chirurgie MeSH
- jejunum chirurgie MeSH
- komplikace těhotenství terapie MeSH
- lidé MeSH
- novorozenec MeSH
- obezita terapie MeSH
- pooperační komplikace MeSH
- těhotenství MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- novorozenec MeSH
- těhotenství MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
