Primární hyperparatyreóza (HPPT) je generalizovaná porucha kalcium-fosfátového metabolizmu důsledkem dlouhodobě zvýšené sekrece parathormonu (PTH). Nejčastější příčina nadprodukce PTH je adenom jednoho či více příštítných tělísek. Trombóza mozkových splavů tvoří asi 1–2 % cévních mozkových příhod a jejím důsledkem může být ložisková ischemie s prokrvácením. V tomto článku popisujeme unikátní kazuistiku pacienta, který byl akutně přijat pro progresi náhle vzniklé poruchy řeči a progredující poruchu vědomí na podkladě trombózy splavů a intracerebrálního krvácení. Vedlejším nálezem při vstupní diagnostice byla hypofosfatemie a hyperkalcemie při elevaci parathormonu.
Primary hyperparathyroidism (HPPT) is a generalized disorder of calcium-phosphate metabolism resulting from long-term secretion of parathyroid hormone (PTH). The most common cause of PTH overproduction is an adenoma of one or more parathyroid glands. Cerebral venous sinus thrombosis accounts for about 1–2% of cerebral events and its consequence can be focal ischemia with intracerebral hemorrhage. In this article, we describe a unique case report of a patient who was urgently admitted for the progression of a sudden speech disorder and progressive impairment of consciousness on the basis of thrombosis in the cerebral sinuses and intracerebral hemorrhage. Secondary findings at the initial diagnostic process were hypophosphatemia and hypercalcemia with parathyroid hormone elevation.
- MeSH
- Adenoma classification complications MeSH
- Hypercalcemia etiology blood MeSH
- Middle Aged MeSH
- Humans MeSH
- Parathyroid Neoplasms * diagnosis classification complications MeSH
- Hyperparathyroidism, Primary diagnosis complications metabolism MeSH
- Heart Disease Risk Factors MeSH
- Sinus Thrombosis, Intracranial * diagnosis etiology MeSH
- Venous Thromboembolism diagnosis etiology blood MeSH
- Check Tag
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Publication type
- Case Reports MeSH
- Research Support, Non-U.S. Gov't MeSH
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.
- MeSH
- Acidosis diagnosis blood therapy MeSH
- Child MeSH
- Electrolytes blood MeSH
- Hypercalcemia therapy blood diagnosis etiology MeSH
- Hyperkalemia therapy diagnosis blood etiology MeSH
- Hypernatremia therapy diagnosis etiology physiopathology MeSH
- Hypocalcemia diagnosis etiology therapy MeSH
- Hypokalemia therapy diagnosis blood etiology MeSH
- Hyponatremia therapy etiology diagnosis MeSH
- Humans MeSH
- Emergencies * MeSH
- Acid-Base Imbalance diagnosis therapy physiopathology MeSH
- Water-Electrolyte Imbalance * therapy MeSH
- Water-Electrolyte Balance physiology MeSH
- Check Tag
- Child MeSH
- Humans MeSH
- Publication type
- Journal Article MeSH
- Review MeSH
Následující článek referuje kazuistiku dvaceti devítileté ženy, která byla hospitalizována pro těžké bolesti břicha vzniklé při akutní pankreatitidě (AP). Během prvních diagnostických kroků byla zjištěna extrémně vysoká hladina triacylglycerolů (TAG), nicméně po stabilizaci stavu byla pozorována také narůstající kalcemie vlivem adenomu příštítného tělíska. Oba stavy jsou už samy o sobě vyvolávajícími faktory. Ale který z nich byl zlomový?
The following article presents the case report of a 29-year-old woman who was hospitalized for severe abdominal pain caused by acute pancreatitis (AP). During the first diagnostic steps, an extremely high level of triacylglycerols (TAG) was detected. However, after stabilisation of the condition, increasing calcaemia due to parathyroid adenoma was also observed. Both conditions are precipitating factors in themselves. But which one was the breaking point?
- MeSH
- Pancreatitis, Acute Necrotizing * etiology therapy MeSH
- Adult MeSH
- Drainage methods MeSH
- Endoscopy, Digestive System methods MeSH
- Hypercalcemia complications MeSH
- Hypertriglyceridemia complications MeSH
- Humans MeSH
- Risk Factors MeSH
- Check Tag
- Adult MeSH
- Humans MeSH
- Female MeSH
- Publication type
- Case Reports MeSH
Vápník (Ca2+) je jeden z nejvýznamnějších iontů v těle. Zajišťuje řadu funkcí, jako je proces kostní mineralizace, hemokoagulace, nervosvalový přenos, svalová kontrakce, přenos intracelulárních dějů a aktivace enzymů. V lidském těle se vyskytuje především extracelulárně a jeho největší zastoupení (přibližně 99%) je v kostech a zubech ve formě hydroxyapatitu. V krvi se nachází ve formě volné (ionizované), vázané na proteiny (především albumin) a vázané v komplexech. Hladina celkového vápníku je tedy závislá na hladině albuminu, proto je při jeho abnormální hladině preferováno stanovení ionizovaného vápníku, nebo korigování koncentrace vápníku dle koncentrace albuminu v séru. Hormonální regulace je zprostředkována parathormonem (PTH) a kalcitriolem. Kalcitonin hraje minoritní roli v metabolizmu vápníku, chrání tělo zejména před náhlým zvýšení kalcemie a na významu nabývá v období gravidity a laktace. Metabolizmus vápníku je úzce propojen s metabolizmem fosfátů a magnezia a je závislý na střevní absorpci, kostní remodelaci a renální reabsorpci. Poruchy metabolizmu vápníku vycházejí z poruch všech těchto regulačních mechanizmů. Přehledový článek shrnuje poznatky o metabolizmu vápníku a zaměřuje se na stavy vedoucí k hyperkalcemii a hypokalcemii.
Calcium (Ca 2+ ) is one of the most important ions in the body. It plays numerous body functions such as skeletal mineralization, blood coagulation, nerve conduction, muscle contraction, transmission of intracellular processes and enzyme activation. In human body, it occurs mainly extracellularly, and its greatest amount (about 99 %) is in the bones and teeth in the form of hydroxyapatite. Serum calcium exists in free form (ionized), bound to proteins (mainly albumin) and bound to complexes. The level of total serum calcium is therefore dependent on the level of serum albumin. When its level is abnormal, ionized calcium or calcium corrected for albumin is preferred. The hormonal regulation is mediated by parathyroid hormone (PTH) and calcitriol. Calcitonin plays a minor role in calcium metabolism, protects the body from sudden increases of calcium levels, and becomes more important during pregnancy and lactation. Calcium metabolism is closely linked to the phosphate and magnesium metabolism and is dependent on intestinal absorption, bone remodeling and renal reabsorption. Disorders of calcium metabolism are caused by disorders of regulatory mechanisms. This review summarizes knowledge about calcium metabolism and focuses on conditions leading to hypercalcemia and hypocalcemia.
- MeSH
- Hypercalcemia etiology physiopathology MeSH
- Hypocalcemia etiology physiopathology MeSH
- Humans MeSH
- Calcium * metabolism MeSH
- Check Tag
- Humans MeSH
- Publication type
- Review MeSH
- MeSH
- Early Diagnosis MeSH
- Hypercalcemia blood MeSH
- Humans MeSH
- Multiple Myeloma * diagnosis pathology MeSH
- Paraproteins analysis MeSH
- Renal Insufficiency diagnosis etiology MeSH
- Aged MeSH
- Check Tag
- Humans MeSH
- Male MeSH
- Aged MeSH
- Publication type
- Case Reports MeSH
- MeSH
- Hypercalcemia * diagnosis therapy MeSH
- Humans MeSH
- Infant, Newborn, Diseases MeSH
- Infant, Newborn MeSH
- Check Tag
- Humans MeSH
- Infant, Newborn MeSH
- Publication type
- Review MeSH
- MeSH
- Anticoagulants MeSH
- Biomedical Research MeSH
- Denosumab MeSH
- Hypercalcemia MeSH
- Drug Therapy, Combination MeSH
- Bone Density MeSH
- Humans MeSH
- Breast Neoplasms MeSH
- Bone Diseases * MeSH
- Peptic Ulcer MeSH
- Prolactinoma MeSH
- Check Tag
- Humans MeSH
- Publication type
- Overall MeSH
- MeSH
- Hypercalcemia * etiology therapy MeSH
- Humans MeSH
- Neoplasms complications MeSH
- Palliative Care MeSH
- Check Tag
- Humans MeSH
- Publication type
- Review MeSH
Small cell carcinoma of hypercalcemic type (SCCOHT) is a rare gynaecological neoplasm, originating mostly in the ovaries. Cervical origin of this very aggressive malignancy with unknown histogenesis is an extremely rare condition, without published management recommendations. Alterations in SMARCA4 gene are supposed to play the major role in SCCOHT oncogenesis and their identification is crucial for the diagnosis. Adequate genetic counselling of the patients and their families seems to be of great importance. Optimal management and treatment approaches are not known yet but may extremely influence the prognosis of young female patients that suffer from this very resistant disease. Nowadays, a translational research seems to be the key for the further diagnostic and treatment strategies of SCCOHT. The purpose of the case report is to provide practical information and useful recommendations on the diagnosis, management, and treatment of SMARCA4-deficient carcinoma of the uterine cervix resembling SCCOHT.
- MeSH
- DNA Helicases deficiency genetics MeSH
- Fatal Outcome MeSH
- Hypercalcemia diagnosis genetics metabolism therapy MeSH
- Nuclear Proteins deficiency genetics MeSH
- Humans MeSH
- Carcinoma, Small Cell diagnosis genetics metabolism therapy MeSH
- Adolescent MeSH
- Mutation MeSH
- Biomarkers, Tumor deficiency genetics MeSH
- Uterine Cervical Neoplasms diagnosis genetics metabolism therapy MeSH
- Transcription Factors deficiency genetics MeSH
- Check Tag
- Humans MeSH
- Adolescent MeSH
- Female MeSH
- Publication type
- Case Reports MeSH
