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Prochazkova D.,Pediatricka Klinika
Cesko-Slovenska Pediatrie | Year: 2010

Phenylketonuria (PKU) is a hereditary disease in the metabolism of the phenylalanine aminoacid, caused by a deficit of phenylalanine hydroxylase in liver. Patients with PKU must maintain an all-life low protein diet with low phenylalanine content in food in the aim to prevent neurological damage. Adherence to the diet is often low due to bad organoleptic properties of the mixtures of aminoacids without phenylalanine as well as the low protein products. The progress in biochemistry, genetics and especially molecular genetics recently resulted in changes of therapeutic strategy in patients with PKU. The present paper discusses the low protein diet, neutral long chain aminoacids, DHA and EPA, therapeutic postnatal repopulation of liver cells, tratrahydrobiopterin, enzyme replacement therapy by means of phenylalanine ammonia lyase (PAL) and gene therapy as a possible treatment of PKU.


Aim: Ultrasound investigation and voiding cystouretrography (VCUG) are part of the diagnostic algorithm in children with febrile urinary tract infection (UTI) with the aim of depicting any complication of the infection and underlying anomalies of the urinary tract. As the understanding of the relationship between UTI, renal scarring and vesicoureteral reflux (VUR) evolves, new recommended imaging algorithms are being introduced. Methods: 184 patients that underwent VCUG after the first or recurrent febrile UTI were included in the study. The incidence of VUR in both groups have been evaluated and compared with ultrasound findings. Patients with VUR were divided into those with non-dilating (VUR grade I-II) and dilating (VUR grade III-V) reflux. Results: Overall VUR was diagnosed in 39/184 (21%) patients. VUR was seen in 23/156 (15%) patients in the group of patients after the first fibrile UTI, in comparison to 16/28 (57%) patients with recurrent fibrile UTI (statistically significant difference, p < 0,0001). 8/156 (5%) patients after the first febrile UTI had dilating VUR, compared to 11/28 (39%) patients after recurrent febrile UTI (statistically significant difference, p < 0,0001). Conclusion. In compliance with current recommendations of the American Academy of Paediatrics the results of this study have shown low incidence of VUR and dilating VUR in patients with a history of single febrile UTI. Based on the results of our study it can be concluded that VCUG is not recommended in all patiens in the age of 2-24 months but only in specifically identified cases.


Mitrova K.,Pediatricka klinika
Pediatrie pro Praxi | Year: 2012

Inflammatory bowel disease (IBD) is a group of chronic, immune-mediated diseases primarily affecting the gastrointestinal tract. IBD includes Crohn's disease, ulcerative colitis and indeterminate colitis. IBD can be painful and debilitating disease affecting child's nutritional status. Early diagnosis and optimal therapy can significantly change the course of the disease and ensure optimal child's growth and development.


Sumnik Z.,Pediatricka klinika
Pediatrie pro Praxi | Year: 2013

The aim of this article is to present the overview about basic developments in pediatric diabetes in several years. The paper included following topics: 1. Changes in epidemiological characteristics in childhood diabetes, 2. Prediction of type 1 diabetes (T1D), 3. Possibilities of prevention T1D, 4. Update on diagnostics of diabetes, 5. New criteria of diabetes control in children, 6. Differential diagnostics of diabetes, and 7. Diabetes technology news.


The first year of infant's life is characterised by transition from liquid food, ideally breastfeeding, to solid type of foods. In the early period the infant nutrition is affected by the prenatal period and complications of its course. Important role may play inborn defects and metabolic disorders. Nevertheless there is an important role of parent's approach to pediatrician's advice. The most common problems related to nutrition in the early period are vomiting, flatulence, failure to thrive and diarrhea. It is possible to solve these symptoms promoting good clinical examination of the infant after having asked the detailed history and while respecting expert's recommendation. The crucial role of first line healthcare service is to separate the minor difficulties from situations that require intervention of a specialist.


Sumnik Z.,Pediatricka klinika | Soucek O.,Pediatricka klinika
Pediatrie pro Praxi | Year: 2015

The International Society for Clinical Densitometry has recently published new guidelines for diagnostics of osteoporosis in children. These recommendations cope with the diagnostics of children with repeated fractures in a very precise and comprehensive way. Calcium, vitamin D and an adequate physical activity are frequently used for the prophylaxis of osteoporosis, bisphosphonates should be administered in the most severe cases. Other therapeutic possibilities (parathormone, denosumab) are a topic of upcoming clinical studies.


Multiple breath inert gas wash out test is a new method for lung function testing, which can be performed in all age groups independent of the patient's active cooperation. The two most important outcome parameters obtained are functional residual capacity (FRC) as a measure of lung size and lung clearance index (LCI), which informs about patency of the most peripheral airways (from the 12th generation to the periphery). The assessment of airway patency is based on ventilation inhomogeneity, making this test different from conventional methods such as spirometry and body plethysmography and making it more sensitive to the mild changes in peripheral airways. The higher sensitivity to early changes in the airways has been shown in many studies. According to the inert gas used for wash out, are several modifications of this test are available. The two most common variants use nitrogen or sulphur hexafluoride. Although both methods are based on the same principle, the technical details are different and the results (absolute values) are not interchangeable. The multiple breath inert gas wash out test can be used mainly in the follow-up of patients with chronic respiratory diseases such as cystic fibrosis, primary ciliary dyskinesia, bronchial asthma and some perinatal lung pathologies. Thanks to its high sensitivity, it is possible to perform therapeutic interventions before less sensitive methods (spirometry, evaluation of the clinical status) indicate any deterioration. Because of the inherent high sensitivity to the most peripheral airway pathology, the test is able to detect mild functional changes in early stages of the disease. Bearing in mind the possibility to test patients while asleep, inert gas wash out is a very attractive method for infant pulmonary function testing.


The common obesity is becoming the most significant medical problem. Obesity is the only one of civilization diseases seen at a glance and personifies the failure of family lifestyle. The key position belongs to prevention of childhood obesity. Overweight or obesity of children begins at 80 % until 3 years and is followed by other members of the household who share the same obesogenic environment. In the prevention and treatment of childhood overweight are some simple nutrition principles with long-term outcomes. Modification of dietary habits of the child has significant potential in establishing preventive measures for other household members.


Rybnicek O.,Pediatricka Klinika
Alergie | Year: 2011

Allergic rhinitis is a very common disease with a steadily increasing prevalence. We argue with the commonly accepted public perception of allergic rhinitis as a trivial disease limited to the nasal mucosa. We describe a significant impact of allergic rhinitis on the quality of life of the affected person and a high economic burden of this disease to the society. Pollen allergens may be examples for discussing the necessity of the correct identification of causal allergens. Currently there are many potent and high quality drugs available for the treatment of allergic rhinitis. In general public there are various alternative treatment methods very popular, however, these are not supported by evidence based data available and can not be recommended.


Seeman T.,Pediatricka Klinika
Pediatrie pro Praxi | Year: 2012

Hypertension is one of the main risk factors of cardiovascular and renal diseases. The prevalence of hypertension in childhood is about 1 %. Secondary hypertension (renal, endocrine, cardiovascular) is more frequent than primary hypertension, however, in adolescents primary form already prevails. Each child with hypertension has to be carefully investigated, the extent of the investigations depends on the age of the child and severity of hypertension, however, all children must have basal investigations (urine, blood, renal ultrasound and echocardiography). Treatment of hypertension is non-pharmacological and pharmacological (angiotensin-converting enzyme inhibitors, beta-blockers, calcium channel blockers, diuretics, angiotensin receptor blockers) in case of symptomatic hypertension, secondary hypertension or signs of target organ damage such as left ventricular hypertrophy or microalbuminuria.

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