Wilson's disease is an inherited disorder leading to accumulation of copper in tissues, mainly in the liver and brain. Genetic defect is in the gene coding ATPase type P (ATP7B). The inheritance is autosomal recessive. Up to now, more then 500 mutations causing Wilson's disease were described. The most frequent mutation in Central Europe is mutation H1069Q. The manifestation of Wilson's disease is usually hepatic or neurologic. Hepatic form is manifested by acute or chronic hepatitis, steatosis or cirrhosis. Neurologic involvement is manifested usually after 20 year of age by motor disturbances (tremor, disturbed speech, problems with writing), which could progress into severe extrapyramidal syndrome with tremor, rigidity, dysartria, dysfagia and muscle contracture. Diagnosis is based on clinical and laboratory examinations (neurologic symptoms, liver disease, low serum ceruloplasmin levels, elevated free copper concentration in serum, high urine copper excretion, and presence of Kayser-Fleischer rings). Confirmation of diagnosis is done by hepatic copper concentration in liver biopsy or by genetic examination. Untreated disease leads to the death of a patient. Treatment is based on chelating agents decreasing the copper content by excretion into urine (D-penicillamine, trientine) or on agents preventing absorption of copper from food (zinc, ammonium-tetrahiomolybdene). Patients with asymptomatic Wilson's disease have to be treated as well. In Czech Republic either penicillamine or zinc are used. Liver transplantation is indicated in patients with fulminant liver failure or decompensated cirrhosis. Screening in families of affected patients (all siblings) is obvious.

• MeSH
• hepatolentikulární degenerace * diagnóza   farmakoterapie   genetika   MeSH
• lidé MeSH
• prognóza MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• anglický abstrakt MeSH
• časopisecké články MeSH
• přehledy MeSH

• MeSH
• dospělí MeSH
• hepatolentikulární degenerace * diagnóza   farmakoterapie   MeSH
• lidé MeSH
• měď metabolismus   MeSH
• penicilamin terapeutické užití   MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• měď MeSH
• penicilamin MeSH

The authors describe the case of a 27-year-old female patient with Wilson's disease who during penicillinamine treatment became pregnant and was delivered of a healthy infant. The diagnosis of Wilson's disease was confirmed by the finding of a Kayser-Fleischer ring in the cornea and a concurrent serum ceruloplasmin concentration lower than 0.20 g/l. Unrecognized and untreated, the disease is associated with the development of organ complications which in the end prove fatal. On the other hand, early diagnosis and effective treatment throughout life can prevent liver and brain damage and thus enable the patient to live a normal life and women can have a healthy child.

• MeSH
• dospělí MeSH
• hepatolentikulární degenerace * terapie   MeSH
• komplikace těhotenství * terapie   MeSH
• lidé MeSH
• těhotenství MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• těhotenství MeSH
• ženské pohlaví MeSH
• Publikační typ
• anglický abstrakt MeSH
• časopisecké články MeSH
• kazuistiky MeSH

Wilsons disease is an autosomal recessive genetic disorder in which copper accumulates in tissues, especially in the liver and the brain. The genetic defect affects the P type ATPase gene (ATP7B). More than 500 mutations causing Wilsons disease have been described. The most common mutation in Central Europe concerns H1069Q. The symptoms of Wilsons disease include hepatic or neurological conditions. The hepatic condition is manifested as steatosis, acute or chronic hepatitis or cirrhosis. The neurological conditions are most often manifested after the age of 20 as motor disorders (tremor, speech and writing disorders), which may result in severe extrapyramidal syndrome with rigidity, dysarthria and muscle contractions. The dia-gnosis is based on clinical and laboratory assessments (neurological signs, liver lesions, low ceruloplasmin, increased free serum copper, high Cu volumes in urine, KayserFleischer ring). The dia-gnosis is confirmed by a high Cu level in liver tissue or genetic proof. Untreated Wilsons disease causes death of the patient. If treated properly the survival rate approximates to the survival rate of the common population. The treatment concerns either removal of copper from the body using chelating agents excreted into the urine (Penicillamine, Trientine) or limitation of copper absorption from the intestine and reducing the toxicity of copper (zinc, ammonium tetrathiomolybdate). In the Czech Republic, Penicillamine or zinc is used. A liver transplant is indicated in patients with fulminant hepatic failure or decompensated liver cirrhosis. In the family all siblings of the affected individual need to be screened in order to treat any asymptomatic subjects.

• MeSH
• adenosintrifosfatasy genetika   MeSH
• ATPasy transportující měď MeSH
• chelátory terapeutické užití   MeSH
• dospělí MeSH
• hepatolentikulární degenerace diagnóza   genetika   terapie   MeSH
• jaterní cirhóza chirurgie   MeSH
• lidé MeSH
• měď metabolismus   MeSH
• molybden terapeutické užití   MeSH
• mutace MeSH
• penicilamin terapeutické užití   MeSH
• proteiny přenášející kationty genetika   MeSH
• transplantace jater * MeSH
• trientin terapeutické užití   MeSH
• zinek terapeutické užití   MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH
• Geografické názvy
• Česká republika MeSH
• Názvy látek
• adenosintrifosfatasy MeSH
• ATP7B protein, human MeSH Prohlížeč
• ATPasy transportující měď MeSH
• chelátory MeSH
• měď MeSH
• molybden MeSH
• penicilamin MeSH
• proteiny přenášející kationty MeSH
• tetrathiomolybdate MeSH Prohlížeč
• trientin MeSH
• zinek MeSH

• Klíčová slova
• ADOLESCENCE *, DIAGNOSIS, DIFFERENTIAL *, HEPATOLENTICULAR DEGENERATION *, LIVER CIRRHOSIS *, NEUROLOGIC MANIFESTATIONS *,
• MeSH
• diferenciální diagnóza * MeSH
• hepatolentikulární degenerace * MeSH
• jaterní cirhóza * MeSH
• lidé MeSH
• mladiství MeSH
• neurologické manifestace * MeSH
• Check Tag
• lidé MeSH
• mladiství MeSH
• Publikační typ
• časopisecké články MeSH

The authors give an account on the incidence of Wilson's disease in two sisters (17 and 8 years). In the older one the diagnosis was established after 8, years in the younger one three years after the first laboratory sings of hepatopathy. As to the range of available laboratory methods in the diagnosis of Wilson's disease, in particular serum ceruloplasmin, serum copper and copper in urine are assessed as well as increased accumulation of copper in hepatic tissue. With regard to the serious character of Wilson's disease and the possibility of effective treatment it is important to rule it out in all cases of obscure hepatopathies, in particular in children and adolescents. It is important to take into account also atypical clinical and laboratory manifestations of Wilson's disease.

• MeSH
• ceruloplasmin analýza   MeSH
• diferenciální diagnóza MeSH
• dítě MeSH
• hepatolentikulární degenerace diagnóza   genetika   metabolismus   MeSH
• lidé MeSH
• měď analýza   MeSH
• mladiství MeSH
• nemoci jater diagnóza   MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mladiství MeSH
• ženské pohlaví MeSH
• Publikační typ
• anglický abstrakt MeSH
• časopisecké články MeSH
• kazuistiky MeSH
• Názvy látek
• ceruloplasmin MeSH
• měď MeSH

This paper presents an overview of the physiological properties of copper (Cu), an essential trace element playing an important role in the human metabolism, primarily as a cofactor of many metalloenzymes. The maintenance of Cu homeostasis is required for proper functioning of the human body. However, when the disturbance of Cu homeostasis occurs, strong pathological manifestations may develop. Wilsons disease and idiopathic toxicosis are examples of severe chronic liver diseases that are the results of genetic predisposition to the hepatic accumulation of copper. Conversely, congenital Menkes disease is manifested as serious Cus nutritional deficiency. Although Cu is necessary for many life processes, it is also a powerful weapon used since the ancient times against many microorganisms. Finally, the theories of Cu antimicrobial and antiviral mechanisms of action are summarized, including contemporary and potential future utilizations in medical and non-medical fields of human life. Key words: copper metalloenzymes copper toxicity copper deficiency copper-related diseases copper applications.

• Klíčová slova
• copper metalloenzymes copper toxicity copper deficiency copper-related diseases copper applications,
• MeSH
• hepatolentikulární degenerace etiologie   MeSH
• homeostáza MeSH
• lidé MeSH
• měď fyziologie   MeSH
• Menkesova choroba etiologie   MeSH
• stopové prvky * MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH
• Názvy látek
• měď MeSH
• stopové prvky * MeSH

The number of type 2 diabetic patients is increasing world-wide and a prediction of prevalence of chronic kidney disease up to 2025 in European diabetic population is alarming. Albuminuria and estimated glomerular filtration rate are cardinal biochemical parameters in diagnostics of diabetic nephropathy. Following diagnostic methods are also used: renal ultrasonography, ophthalmoscopy and in not clarified cases renal biopsy. Long-term optimal glycemic control, efficient antihypertensive treatment by angiotensin converting enzyme inhibitor, or angiotensin receptor blocker and recommended protein intake is a cornerstone of therapy. The research is presently focused on new pathophysiological mechanisms, as analysis of genome, microRNA, kidney injury biomarkers and proteomes.Key words: chronic kidney disease - type 2 diabetes mellitus.

• MeSH
• albuminurie diagnóza   farmakoterapie   etiologie   genetika   MeSH
• antagonisté receptorů pro angiotenzin terapeutické užití   MeSH
• antihypertenziva terapeutické užití   MeSH
• biopsie MeSH
• chronická renální insuficience diagnóza   farmakoterapie   etiologie   genetika   MeSH
• diabetes mellitus 2. typu komplikace   diagnóza   farmakoterapie   MeSH
• diabetické nefropatie diagnóza   farmakoterapie   etiologie   genetika   MeSH
• genomika MeSH
• hodnoty glomerulární filtrace MeSH
• inhibitory ACE terapeutické užití   MeSH
• ledviny diagnostické zobrazování   patologie   MeSH
• lidé MeSH
• mikro RNA MeSH
• oftalmoskopie MeSH
• proteomika MeSH
• ultrasonografie MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• antagonisté receptorů pro angiotenzin MeSH
• antihypertenziva MeSH
• inhibitory ACE MeSH
• mikro RNA MeSH

• Klíčová slova
• HEPATOLENTICULAR DEGENERATION/etiology and pathogenesis *,
• MeSH
• hepatolentikulární degenerace etiologie   MeSH
• Publikační typ
• časopisecké články MeSH

Wilson disease (WD) belongs to autosomal recessive genetic metabolic disorders with gene mutation ATP7B located on 13th chromosome. The enzyme ATPase plays an important role in WD. It facilitates excretion of copper into bile. This gene is responsible for modification of apoceruloplasmin. In this disease, it leads to insufficient release of copper from organism and accumulation of copper in organs such as liver, brain which can cause dysfunction of a certain organ. According to specific symptoms, we can divide WD into psychiatric, neurologic or hepatic form. The WD usually manifests between 15 and 25 years of age. Hepatic form often occurs sooner, on the contrary, the neurological variant usually occur during the later stages. We present a case report of 45-years-old woman with atypical medical history of WD, in which the diagnostic process was very long and had interdisciplinary character.Key words: brain - copper - diagnostic - genetics - liver - panda - Wilson disease.

• MeSH
• hepatolentikulární degenerace diagnóza   patofyziologie   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
• přehledy MeSH