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

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.

• Klíčová slova
• case report, cervical cancer, diagnostic biomarker, gynecological cancer, high-risk, personalized treatment, predictive marker,
• MeSH
• DNA-helikasy nedostatek   genetika   MeSH
• fatální výsledek MeSH
• hyperkalcemie diagnóza   genetika   metabolismus   terapie   MeSH
• jaderné proteiny nedostatek   genetika   MeSH
• lidé MeSH
• malobuněčný karcinom diagnóza   genetika   metabolismus   terapie   MeSH
• mladiství MeSH
• mutace MeSH
• nádorové biomarkery nedostatek   genetika   MeSH
• nádory děložního čípku diagnóza   genetika   metabolismus   terapie   MeSH
• transkripční faktory nedostatek   genetika   MeSH
• Check Tag
• lidé MeSH
• mladiství MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• Názvy látek
• DNA-helikasy MeSH
• jaderné proteiny MeSH
• nádorové biomarkery MeSH
• SMARCA4 protein, human MeSH Prohlížeč
• transkripční faktory MeSH

Familial hypocalciuric hypercalcemia (FHH) type 1, caused by a heterozygous inactivating mutation of the gene encoding the calcium-sensing receptor (CaSR), is characterized by mild to moderate hypercalcemia, hypocalciuria and inappropriately normal or elevated parathyroid hormone (PTH). FHH must be differentiated from primary hyperparathyroidism (PHPT) because parathyroidectomy is ineffective in the former. Herein, we report a 39-year-old male patient with a 13-year history of asymptomatic PTH-dependent hypercalcemia (mean calcium of 2.88 mmol/l; reference range 2.15-2.55 mmol/l) and calcium-to-creatinine clearance ratio (Ca/Cr) ranging from 0.007 to 0.0198, which is consistent with either FHH or PHPT. Although a family history of hypercalcemia was negative, and PET-CT with fluorocholine was suggestive of a parathyroid adenoma, genetic analysis of the CaSR gene identified a heterozygous inactivating mutation NM_000388.4:c.1670G>A p. (Gly557Glu) in exon 6 and a polymorphism NM_000388.4:c.1192G>A p. (Asp398Asn) in exon 4. The G557E mutation has been previously reported in a Japanese family in which all family members with the mutation had Ca/Cr below 0.01 consistent with FHH. The biochemical profile of FHH and PHPT may overlap. Our FHH patient with a G557E CaSR mutation illustrates that the differential diagnosis can be difficult in an index case with no family history, (false) positive parathyroid imaging and higher calciuria than expected for FHH. Calcium intake, vitamin D status and bone resorption might have contributed to the Ca/Cr variations over a 13-year clinical follow up. This case thus emphasizes the irreplaceable role of genetic testing of the CaSR gene when clinical evaluation is inconclusive.

• MeSH
• diferenciální diagnóza MeSH
• dospělí MeSH
• hyperkalcemie krev   vrozené   diagnóza   diagnostické zobrazování   MeSH
• lidé MeSH
• následné studie MeSH
• PET/CT metody   MeSH
• primární hyperparatyreóza krev   diagnóza   diagnostické zobrazování   MeSH
• prognóza MeSH
• receptory "calcium-sensing" krev   MeSH
• vápník krev   MeSH
• vitamin D krev   MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• Názvy látek
• receptory "calcium-sensing" MeSH
• vápník MeSH
• vitamin D MeSH

UNLABELLED: The concentration of calcium is carefully maintained under physiological conditions with parathormone, calcitonin and 1,25-dihydroxyvitamin D at appropriate levels. There are multiple causes that may bring about increased concentrations of calcium which exceed physiological values. Increased production of parathormone in parathyroid glands is only one of the possible causes. Malignant diseases are a very frequent cause of hypercalcemia, due to their creating mediators which stimulate osteoclasts and thereby osteolysis. A less frequent cause is represented by granulomatous processes, a typical example of which is sarcoidosis, whose cells increasingly (independently of parathormone) hydroxylate 25-hydroxyvitamin D to 1,25-dihydroxyvitamin D. However there are also hereditary forms of hypercalcemia. One of the causes of the hereditary form of hypercalcemia is mutations of the calcium sensing receptor. In order to locate the adenoma of parathyroid glands, essential apart from sonographic imaging is scintigraphy 99mTc-methoxyisobutylisonitrile (MIBI) and even more exact is PET-CT examination with a radio-pharmaceutical 18F-fluorocholine. PET-CT examinations are beneficial with regard to detecting a malignant cause of hypercalcemia in until then undetected malignancy or an undetected granulomatous process. The essential treatment procedures for malignant hypercalcemia include appropriate hydratation of ionic solutions without calcium, administering of bisphosphonates or denosumab. The text describes in detail the symptoms of hypercalcemia and diagnostics of causes of hypercalcemia. KEY WORDS: bisphosphonates - cinacalcet - denosumab - granulomatous diseases - hereditary hypercalcemia - hypercalcemia - hypercalciuria - hyperparathyreosis - calcimimetics - calcitonin - multiple myeloma - malignant hypercalcemia - parathormone - sarcoidosis - 1,25-dihydroxyvitamin D.

• MeSH
• bisfosfonáty terapeutické užití   MeSH
• diferenciální diagnóza MeSH
• hyperkalcemie diagnóza   farmakoterapie   etiologie   MeSH
• kalcitonin krev   MeSH
• lidé MeSH
• nádory komplikace   MeSH
• paraneoplastické syndromy diagnóza   farmakoterapie   etiologie   MeSH
• sarkoidóza komplikace   MeSH
• vápník krev   MeSH
• vitamin D analogy a deriváty   krev   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• 1,25-dihydroxyvitamin D MeSH Prohlížeč
• 25-hydroxyvitamin D MeSH Prohlížeč
• bisfosfonáty MeSH
• kalcitonin MeSH
• vápník MeSH
• vitamin D MeSH

Idiopathic infantile hypercalcemia (IIH) is a rare disorder caused by CYP24A1 loss-of-function mutation, resulting in impaired degradation of 1,25-dihydroxyvitamin D3. Pamidronate, an intravenously administered bisphosphonate, which is a potent inhibitor of bone resorption, has been reported only once for treatment IIH. We present a case of a previously healthy 5-month-old boy with IIH, where calcemia peaked to 5 mmol/L. Treatment with methylprednisone and furosemide had only minor effects; therefore, 2 intravenous infusions of pamidronate (0.6 mg/kg per dose) corrected the serum calcium level to 2.95 mmol/L. Furthermore, CYP24A1 homozygous mutation p.R396W (c.1186c>t) was identified in this patient, confirming the clinical diagnosis of IIH. In conclusion, IIH has a favorable outcome once properly detected and appropriately treated. Pamidronate has a beneficial effect in those patients with IIH where glucocorticoids and furosemide fail to meet the expectations.  

• MeSH
• biologické markery metabolismus   MeSH
• bisfosfonáty terapeutické užití   MeSH
• CYP24A1 MeSH
• diferenciální diagnóza MeSH
• hyperkalcemie diagnóza   farmakoterapie   genetika   MeSH
• inhibitory kostní resorpce terapeutické užití   MeSH
• kojenec MeSH
• lidé MeSH
• mutace MeSH
• pamidronát MeSH
• předškolní dítě MeSH
• steroidhydroxylasy genetika   MeSH
• vápník metabolismus   MeSH
• výsledek terapie MeSH
• Check Tag
• kojenec MeSH
• lidé MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• Názvy látek
• biologické markery MeSH
• bisfosfonáty MeSH
• CYP24A1 protein, human MeSH Prohlížeč
• CYP24A1 MeSH
• inhibitory kostní resorpce MeSH
• pamidronát MeSH
• steroidhydroxylasy MeSH
• vápník MeSH

UNLABELLED: We report on a male infant presenting at 4 months of age with failure to thrive, dehydration, hypotonia, lethargy, and vomiting. Laboratory and imaging tests revealed severe hypercalcemia (5.8 mmol/l), suppressed parathyroid hormone (0.41 pmol/l), hypercalciuria (8.0 mmol/mmol creatinine), elevated 25-hydroxyvitamin D3 (over 600 nmol/l), and nephrocalcinosis. These symptoms are characteristic of idiopathic infantile hypercalcemia (IIH, MIM 143880). Conservative therapy (parenteral rehydration, diuretics, corticosteroids, bisphosphonates, and vitamin D prophylaxis withdrawal) was not able to improve the symptoms and laboratory values, and acute hemodiafiltration was necessary to normalize hypercalcemia. Clinical symptoms resolved rapidly after normalization of serum calcium levels. Molecular genetic testing revealed a homozygous mutation (R396W) in the CYP24A1 gene (MIM 126065) encoding 25-hydroxyvitamin D3 24-hydroxylase, which is the key enzyme responsible for 1,25-dihydroxyvitamin D3 degradation. The CYP24A1 gene mutation leads to the increased sensitivity of the patients to even prophylactic doses of vitamin D and to the development of severe symptomatic hypercalcemia in patients with IIH. CONCLUSION: Our patient is only the thirteenth patient with IIH caused by mutation in the CYP24A1 gene and the first one needing acute hemodiafiltration for severe symptomatic hypercalcemic crisis. In all patients with suspected IIH the DNA analysis for CYP24A1 gene mutations should be performed regardless of the type of vitamin D supplementation and serum levels of vitamin D.

• MeSH
• CYP24A1 MeSH
• diferenciální diagnóza MeSH
• hyperkalcemie diagnóza   genetika   MeSH
• kalcifediol genetika   MeSH
• kojenec MeSH
• lidé MeSH
• mutace MeSH
• steroidhydroxylasy genetika   MeSH
• vápník krev   MeSH
• Check Tag
• kojenec MeSH
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• Názvy látek
• CYP24A1 protein, human MeSH Prohlížeč
• CYP24A1 MeSH
• kalcifediol MeSH
• steroidhydroxylasy MeSH
• vápník MeSH

Idiopathic infantile hypercalcaemia (IIH) is a mineral metabolism disorder of unknown origin. It is characterized by high levels of serum calcium resulting in parathyroid hormone (PTH) suppression, muscle hypotonia, thirst, anorexia, failure to thrive, psychomotor retardation, constipation, nephrocalcinosis. Treatment consists of low calcium diet, glucocorticoids, furosemide. We present a case of 5-month old girl with IIH, where total calcaemia peaked to 4.25 mmol/l. The leading symptoms were failure to thrive, constipation, muscle hypotonia, dehydration. Rehydration, low calcium diet, and application of glucocorticoids and furosemide resulted in a drop in calcaemia to normal values and an overall clinical improvement within two weeks. Williams-Beuren syndrome (WBS), benign familial hypocalciuric hypercalcaemia (FHH), neonatal severe primary hyperparathyroidism (NSHPT), Jansen's metaphyseal dysplasia, primary hyperparathyroidism, vitamin D intoxication, granulomatous diseases, thyroid disease, malignancy were all ruled out. In conclusion, infants with failure to thrive should have their serum levels of minerals, especially, calcium, checked. In case of hypercalcaemia, treatment with corticosteroids and furosemide should be initiated, together with further diagnostic steps in order to elucidate its origin.

• MeSH
• diferenciální diagnóza MeSH
• hyperkalcemie diagnóza   terapie   MeSH
• kojenec MeSH
• lidé MeSH
• Check Tag
• kojenec MeSH
• lidé MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH

Hypercalcemia and hypophosphatemia are symptoms of two relatively rare hereditary diseases and are extraordinarily important from the standpoint of the differential diagnosis. Mutation in calcium sensing receptor gene (CaSR) clinically manifests as familial hypocalciuric hypercalcemia (FHH) or as the much more serious neonatal hyperparathyreosis. Hypercalciuric hypocalcemia is extremely rare. Prognosis for the most frequent mutations in the CaSR gene FHH is considered benign; nevertheless, if overlooked it can lead to an incorrect diagnosis of primary hyperparathyreosis, which has a fundamentally different prognosis and treatment. Familial hypophosphatemia sometimes occurs as hereditary rickets, which is a consequence of insufficient production of vitamin D-hormone or abnormal function of vitamin D receptors (VDR). The disease manifests as X-linked dominant hypophosphatemic rickets or autosomal dominant hypophosphatemic rickets. Autosomal recessive form is very rare. Oncogenic hypophosphatemia should be excluded in differential diagnosis. In this review the issues of pathogenesis, differential diagnosis and treatment of FHH and hypophosphatemic rickets are discussed.

• MeSH
• diferenciální diagnóza MeSH
• familiární hypofosfatemie diagnóza   MeSH
• fosforečnany vápenaté metabolismus   MeSH
• hyperkalcemie diagnóza   genetika   MeSH
• hyperparatyreóza diagnóza   genetika   MeSH
• lidé MeSH
• mutace MeSH
• receptory "calcium-sensing" genetika   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• anglický abstrakt MeSH
• časopisecké články MeSH
• přehledy MeSH
• Názvy látek
• fosforečnany vápenaté MeSH
• receptory "calcium-sensing" MeSH

Primary hyperparathyreosis and tumour diseases are the two most frequent causes of hypercalcaemia. Surgical removal of parathyroid adenoma is the permanent solution for hypercalcaemia. Hypercalcaemia may occur in 20-30% of patients with cancer in the course of the disease. It causes progressive deterioration of the overall condition of the patient which culminates in a coma-like state with renal failure and means a bad prognosis for the affected person. Evaluation of clinical condition and obtaining the immunoreactive parathormone level data are of extreme importance for correct diagnosis. Normal or even low parathormone levels almost surely exclude primary hyperparathyreosis as the source of hypercalcaemia. Additional, less frequent causes of hypercalcaemia should also be taken into consideration, such as diseases caused by the granulomatose tissue, familial benign hypocalciuric hypercalcaemia, drug provoked hypercalcaemia, high thyroid hormone doses and patient dehydration. Fast replenishment of liquids and administration of bisphosphonates are the cornerstones of hypercalcaemia therapy.

• MeSH
• diferenciální diagnóza MeSH
• hyperkalcemie diagnóza   etiologie   MeSH
• hyperparatyreóza komplikace   diagnóza   MeSH
• lidé MeSH
• nádory komplikace   diagnóza   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• anglický abstrakt MeSH
• časopisecké články MeSH
• přehledy MeSH

History of the Williams syndrome (WS) represents a process of detailed analysis of phenotypic markers and of attempts to reveal their origin. This demanding tasks have brought many valuable findings, which were employed in different fields of medicine, namely in cardiology, metabolism, genetics, psychology and cognitive neurosciences. Discovery of the genetic basis of the disease closed the first period of the syndrome analysis. Genetic studies have been proceeding and WS can be taken as a model syndrome for the behavioral genes identification. Similarly the description of the pathogenesis of vascular anomalles represents the key for understanding of the pathogenesis of other, more common vascular diseases. The article brings the review of the history of the WS.

• MeSH
• dějiny 20. století MeSH
• hyperkalcemie diagnóza   dějiny   MeSH
• lidé MeSH
• mentální retardace diagnóza   dějiny   MeSH
• supravalvulární stenóza aorty diagnóza   dějiny   MeSH
• Williamsův-Beurenův syndrom genetika   dějiny   MeSH
• Check Tag
• dějiny 20. století MeSH
• lidé MeSH
• Publikační typ
• anglický abstrakt MeSH
• časopisecké články MeSH
• historické články MeSH
• práce podpořená grantem MeSH