Von Hippel-Lindau syndrome (VHL) is a rare genetic disease. Its incidence is 1 : 36,000, there is the familial occurrence in 80 % of cases , the remaining cases are de novo mutations. The disease is caused by the highly penetrant mutations in the VHL gene (3p25.3) and is characterized by the occurrence of benign and malignant neoplasms. The most common VHL tumors are the tumors of the retina, brain and spinal hemangioblastomas, renal cell carcinoma, pheochromocytoma, endolymfatic sac tumors and pancreatic tumors and cysts. The mean age of the VHL patients during the diagnosis is 20-40 years. The diagnosis can be confirmed by a positive family history and the presence of one of the typical tumor. In case of no family history, the diagnosis has to be assessed by the presence of the multiple tumors. The clinical signs and prognosis of VHL depend on the location and extent of the tumors. The life expectancy is 50 years. The most common causes of death are complications of the renal cancer and the brain tumors. The treatment requires a multidisciplinary collaboration through the whole life of patients. This 2 cases report we demonstrate the differences among the patients with de novo mutations disease and the patient with familial incidence.Key words: pheochromocytoma - renal cell carcinoma - von Hippel-Lindau syndrome.

• MeSH
• dospělí MeSH
• genetická predispozice k nemoci * MeSH
• karcinom z renálních buněk MeSH
• lidé MeSH
• mutace MeSH
• nádorový supresorový protein VHL * MeSH
• nádory ledvin MeSH
• prognóza MeSH
• von Hippelova-Lindauova nemoc diagnóza   genetika   MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH
• Názvy látek
• nádorový supresorový protein VHL * MeSH

DRESS syndrome (Drug Rash with Eosinophilia and Systemic Symptoms) is severe drug-induced allergic-type reaction which occurs few days to weeks after taking a drug in a predisposed patient. Organ damage, eosinophilia and skin rash are typical at presentation. Corticotherapy is often necessary in severe cases. In this report we describe a case of 56-year old female with fever, elevated liver tests and skin rash. DRESS syndrome was diagnosed and allopurinol was indentified as a causative drug. Due to possible fatal outcome, DRESS syndrome should be considered in a differential diagnosis of all patients presenting with similar signs and symptoms.

• MeSH
• alopurinol škodlivé účinky   MeSH
• diferenciální diagnóza MeSH
• inhibitory enzymů škodlivé účinky   MeSH
• lékový hypersenzitivní syndrom diagnóza   MeSH
• lidé středního věku MeSH
• lidé MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• Názvy látek
• alopurinol MeSH
• inhibitory enzymů MeSH

Hyponatraemia is the most common electrolyte disbalance in clinical practice, which is associated with increased patients morbidity and mortality. At present the pathophysiology of hyponatraemia is explored in more details, antidiuretic hormone and osmoregulation play the major roles. This article informs about relatively new classification of hyponatraemia for clinical practice based on the severity of clinical symptoms and based on the effective serum osmolality. It also offers diagnostic and treatment guidelines of hyponatraemia, which are based on current recommendations of the world experts and on the evidence based medicine.

• MeSH
• antidiuretika terapeutické užití   MeSH
• hyponatremie diagnóza   patofyziologie   terapie   MeSH
• lidé MeSH
• vasopresiny terapeutické užití   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH
• Názvy látek
• antidiuretika MeSH
• vasopresiny MeSH