- MeSH
- Child MeSH
- Adult MeSH
- Epilepsies, Partial diagnosis etiology complications MeSH
- Epilepsy * diagnosis classification complications physiopathology therapy MeSH
- Landau-Kleffner Syndrome diagnosis complications MeSH
- Humans MeSH
- Parasomnias * diagnosis etiology physiopathology therapy MeSH
- Sleep Arousal Disorders etiology MeSH
- Sleep Wake Disorders etiology classification MeSH
- Prader-Willi Syndrome diagnosis complications MeSH
- Check Tag
- Child MeSH
- Adult MeSH
- Humans MeSH
- Male MeSH
- Female MeSH
- Publication type
- Case Reports MeSH
Prader-Willi syndrom je závažné geneticky podmíněné multisystémové onemocnění. Mezi jeho typické příznaky patří kromě faciální dysmorfie i svalová hypotonie, porucha příjmu potravy (neprospívání s následnou hyperfagií a obezitou) a porucha růstu. Uvádíme kazuistiky tří dětí s Prader-Willi syndromem. U dvou z nich byla genetická diagnóza stanovena až po druhém roce života s rozdílným vlivem na jejich další zdravotní stav, ale ani časná diagnóza v dalším případě nevyloučila rozvoj extrémní obezity vedoucí k závažné morbiditě. Cílem článku je upozornit na důležitost včasné diagnostiky a zahájení komplexní léčby tohoto stavu, včetně léčby růstovým hormonem, které tak mohou významně ovlivnit klinický stav pacientů.
Prader-Willi syndrome is a dangerous genetic multisystem disorder. It's typical symptoms include facial dysmorphia, muscle weakness, growth and eating disorders (failure-to-thrive followed by polyphagia and obesity). We are presenting three case histories of children with Prader-Willi syndrome. Two of them have been diagnosed after the second year of life, with differing impact on their health. Early diagnosis in the third case history didn't eliminate development of extreme obesity leading to serious morbidity. The aim of the article is to bring attention to importance of early diagnosis and initiation of complex treatment of this condition, including growth hormone therapy that can singificantly affect the clinical condition of patients.
- MeSH
- Medical History Taking MeSH
- Humans MeSH
- Adolescent MeSH
- Obesity MeSH
- Prader-Willi Syndrome * diagnosis physiopathology therapy MeSH
- Child, Preschool MeSH
- Growth Hormone therapeutic use MeSH
- Age of Onset MeSH
- Treatment Outcome MeSH
- Check Tag
- Humans MeSH
- Adolescent MeSH
- Male MeSH
- Child, Preschool MeSH
- Female MeSH
- Publication type
- Case Reports MeSH
Prezentujeme kazuistiku predčasne narodeného hypotrofického novorodenca s obojstranne retinovanými semenníkmi. Pri pretrvávaní ťažkého centrálneho hypotonického syndrómu s poruchou sania sme v rámci diferenciálnej diagnostiky vyslovili podozrenie na zriedkavé ochorenie syndróm Praderovej-Williho. Diagnóza sa neskôr potvrdila aj geneticky.
Authors present a case report of preterm newborn with intrauterine growth retardation and cryptorchidism. Severe central hypotonia with pooor suck were persistant symptoms. We have suspicion to Prader-Willi syndrome, which was confirmed by special genetic tests.
- Keywords
- hypotonický syndrom,
- MeSH
- Cryptorchidism etiology pathology MeSH
- Humans MeSH
- Infant, Premature MeSH
- Infant, Newborn MeSH
- Prader-Willi Syndrome * diagnosis pathology therapy MeSH
- Check Tag
- Humans MeSH
- Infant, Newborn MeSH
- Publication type
- Case Reports MeSH
- MeSH
- History, 17th Century MeSH
- Paintings MeSH
- Prader-Willi Syndrome * diagnosis drug therapy genetics MeSH
- Check Tag
- History, 17th Century MeSH
- Publication type
- Historical Article MeSH
- MeSH
- Angelman Syndrome * diagnosis MeSH
- Child MeSH
- DNA isolation & purification MeSH
- Epigenomics MeSH
- Real-Time Polymerase Chain Reaction MeSH
- Humans MeSH
- DNA Methylation MeSH
- Mutation genetics MeSH
- Nervous System Diseases MeSH
- Infant, Newborn MeSH
- Prader-Willi Syndrome * diagnosis MeSH
- Child, Preschool MeSH
- Muscle Hypotonia MeSH
- Rare Diseases MeSH
- Check Tag
- Child MeSH
- Humans MeSH
- Male MeSH
- Infant, Newborn MeSH
- Child, Preschool MeSH
- Publication type
- Case Reports MeSH
- Research Support, Non-U.S. Gov't MeSH
- MeSH
- Diagnosis, Differential * MeSH
- Child MeSH
- Clinical Laboratory Techniques MeSH
- Humans MeSH
- Melorheostosis diagnosis MeSH
- Noonan Syndrome diagnosis MeSH
- Growth Disorders * diagnosis etiology MeSH
- Prader-Willi Syndrome diagnosis MeSH
- Growth physiology MeSH
- Body Height * MeSH
- Turner Syndrome diagnosis MeSH
- Check Tag
- Child MeSH
- Humans MeSH
- Keywords
- komplexní vyšetření,
- MeSH
- Cushing Syndrome * diagnosis therapy MeSH
- Child MeSH
- Infant MeSH
- Humans MeSH
- Melorheostosis * diagnosis therapy MeSH
- Adolescent MeSH
- Fetus MeSH
- Growth Disorders * diagnosis etiology drug therapy classification prevention & control therapy MeSH
- Observation * MeSH
- Prader-Willi Syndrome * diagnosis therapy MeSH
- Child, Preschool MeSH
- Growth and Development * MeSH
- Fetal Growth Retardation * diagnosis MeSH
- Growth Hormone * administration & dosage pharmacology genetics deficiency therapeutic use MeSH
- Turner Syndrome * diagnosis MeSH
- Check Tag
- Child MeSH
- Infant MeSH
- Humans MeSH
- Adolescent MeSH
- Child, Preschool MeSH
Hypotalamus zajišťuje integraci nervových a humorálních regulací. Má základní význam pro regulaci metabolismu vody, termoregulaci, kontroly chuti k jídlu a energetického výdeje, cirkadiálních rytmů, vegetativních funkcí, nálady a chování i paměti. Při postižení hypotalamu dochází ke kombinaci příznaků z poruchy těchto funkcí spolu s poruchou adenohypofýzy a neurologickými projevy. Příčiny postižení mohou být vrozené nebo získané. V dospělosti jsou nejčastější příčinou primární nádory nebo metastázy, záněty, trauma a vaskulární příčiny. Článek se věnuje zejména diagnostice a léčbě diabetes insipidus, syndromu nepřiměřené sekrece antidiuretického hormonu, hypotalamické obezitě. Zmíněny jsou i nejčastější vrozené hypotalamické syndromy.
Hypothalamus integrates neural and humoral regulation in the body. It has a key role in water metabolism, thermoregulation, control of appetite and energy expenditure, circadian rhythms, vegetative functions, control of mood, behaviour and memory. Hypothalamic injury presents itself as a combined impairment of these functions with anterior pituitary failure and neurological symptoms. Hypothalamic injury is either congenital (both genetic and developmental) or acquired. In adults, the most frequent causes are primary or metastatic tumours, infections, trauma or vascular lesions. This article covers diagnosis and therapy of diabetes insipidus, syndrome of inappropriate antidiuretic hormone secretion and hypothalamic obesity. The most common hypothalamic inherited syndromes are mentioned as well.
- MeSH
- Bardet-Biedl Syndrome complications MeSH
- Diabetes Insipidus diagnosis etiology drug therapy classification metabolism therapy MeSH
- Diagnostic Techniques, Urological classification MeSH
- Hypogonadism genetics MeSH
- Humans MeSH
- Pituitary Diseases * diagnosis etiology drug therapy complications therapy MeSH
- Hypothalamic Diseases * diagnosis etiology drug therapy classification therapy MeSH
- Obesity etiology drug therapy complications MeSH
- Prader-Willi Syndrome diagnosis drug therapy MeSH
- Septo-Optic Dysplasia genetics complications MeSH
- Inappropriate ADH Syndrome diagnosis etiology drug therapy therapy MeSH
- Body Temperature Regulation physiology drug effects MeSH
- Check Tag
- Humans MeSH
Vyšetření dítěte s růstovou poruchou musí být vždy komplexní. Současné indikace k léčbě růstovým hormonem jsou: deficit růstového hormonu u dětí, deficit růstového hormonu u dospělých (těžká forma deficitu), Turnerův syndrom, růstové selhání u dětí s chronickou renální insuficiencí, syndrom Pradera-Williho, růstové selhání navazující na intrauterinní růstovou retardaci (SGA/IUGR, small for gestational age/intrauterine growth retardation), deficit SHOX genu (například Léri-Weillův syndrom). Léčba ostatních příčin poruch růstu spočívá v odstranění základní příčiny (například léčba hypotyreózy, bezlepková dieta u celiakie).
An examination of a child with growth disorder must always be complex. Current indications to the growth hormone therapy are: growth hormone deficiency in children, growth hormone deficiency in adults (severe deficiency of growth hormone), Turner syndrome, growth failure in children with chronic renal failure, growth failure in children with intrauterine growth retardation (IUGR/SGA, intrauterine growth retardation/small for gestational age), Prader-Willi syndrome, deficiency of SHOX gene (e.g. Leri-Weill syndrome). In other cases of growth disorder we have to exclude primary cause (e.g. therapy of hypothyroidism, diet in coeliac disease).
- Keywords
- malý vzrůst, léčba růstovým hormonem,
- MeSH
- Early Diagnosis MeSH
- Child MeSH
- Humans MeSH
- Human Growth Hormone deficiency secretion therapeutic use MeSH
- Metabolic Diseases diagnosis complications MeSH
- Endocrine System Diseases diagnosis complications MeSH
- Growth Disorders diagnosis drug therapy MeSH
- Prader-Willi Syndrome diagnosis MeSH
- Puberty, Precocious diagnosis complications MeSH
- Growth and Development physiology drug effects MeSH
- Body Height physiology drug effects MeSH
- Turner Syndrome diagnosis drug therapy MeSH
- Check Tag
- Child MeSH
- Humans MeSH
- Publication type
- Review MeSH
- MeSH
- Child MeSH
- Hypopituitarism diagnosis etiology physiopathology MeSH
- Infant MeSH
- Humans MeSH
- Adolescent MeSH
- Noonan Syndrome diagnosis etiology physiopathology MeSH
- Infant, Newborn MeSH
- Growth Disorders etiology drug therapy physiopathology MeSH
- Prader-Willi Syndrome diagnosis etiology physiopathology MeSH
- Child, Preschool MeSH
- Growth physiology MeSH
- Growth Hormone deficiency therapeutic use MeSH
- Body Height physiology drug effects MeSH
- Turner Syndrome diagnosis etiology physiopathology MeSH
- Child Development physiology MeSH
- Adolescent Development physiology MeSH
- Check Tag
- Child MeSH
- Infant MeSH
- Humans MeSH
- Adolescent MeSH
- Male MeSH
- Infant, Newborn MeSH
- Child, Preschool MeSH
- Female MeSH
