LEKARZ KATOWICE

<a href="http://www.medindia.net/patients/patientinfo/images/granulomatous-disease.jpg" style="clear: left; float: left; margin-bottom: 1em; margin-right: 1em;" title="49/52, Headache. by Tessa Kongkeattikul, on Flickr"><img height="150" src="http://www.medindia.net/patients/patientinfo/images/granulomatous-disease.jpg" width="150" /></a>Przewlekła choroba ziarniniakowa (z ang. chronic granulomatous disease) określa pewną grupę zaburzeń metabolizmu oksydacyjnego granulocytów (neutrofili) oraz monocytów. Przewlekła choroba ziarniniakowa jest spotykana dość rzadko - obecnie częstość występowania określana jest jako 1 przypadek na 200 tysięcy osób. Najczęściej CGD dziedziczona jest recesywnie jako cecha sprzężona z chromosomem X, natomiast niemal w 30% przypadków dziedziczenie jest autosomalne recesywne.  
 
 
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1. PRZEWLEKŁA CHOROBA ZIARNINIAKOWA - PRZYCZYNY</div>
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U podłoża schorzenia leżą mutacje genów odpowiadające 4 białkom umieszczonym na błonie plazmatyczej (odnoszą się one do wszystkich pacjentów z przewlekłą chorobą ziarniniakową). Dwa białka tworzą w błonie plazmatycznej heterodimer cytochromu b-558 (białko 91 kDa nieprawidłowe w CGD związanej z chromosomem X oraz białko 22 kDa nieobecne w jednej postaci dziedziczonej autosomalnie recesywnie). Dwa inne białka są pochodzenia pierwotnie cytoplazmatycznego i po aktywacji komórkowej oddziałują z cytochromem, aby utworzyć oksydazę NADPH potrzebną do produkcji nadtlenku wodoru (białka 47 kDa oraz 67 kDa nieprawidłowe w innych postaciach dziedziczonych autosomalnie recesywnie). </div>
 
 
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2. PRZEWLEKŁA CHOROBA ZIARNINIAKOWA - OBJAWY</div>
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 Leukocyty pochodzące od pacjentów z przewlekłą chorobą ziarniniakową cechują się znacznie zmniejszoną produkcję H2O2. Osoby cierpiące na przewlekłą chorobę ziarniniakową mają charakterystycznie zwiększoną częstość infekcji katalazo-dodatnimi mikroorganizmami (niszczącymi swój H2O2).  
 
Infekcje u pacjentów z tym schorzeniem są często rozległe i obejmują również węzły chłonne pomimo stosowania odpowiednich antybiotyków. Zazwyczaj występują aftowe owrzodzenia i przewlekłe zapalenie nozdrzy. Często pojawiają się ziarniniaki, które mogą powodować niedrożność jelit i dróg moczowo-płciowych.  
 
Rozległe reakcje zapalne są prawdopodobnie odbiciem nieprawidłowego przebiegu zapalenia wskutek braku niszczenia czynników chemotaktycznych i antygenów, co powoduje ciągłe gromadzenie się neutrofili. Zaburzone wewnątrzkomórkowe niszczenie bakterii przez makrofagi może prowadzić do przewlekającej się odpowiedzi komórkowej i tworzenia się ziarniniaków. 
 
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3. PRZEWLEKŁA CHOROBA ZIARNINIAKOWA - CHOROBY TOWARZYSZĄCE 
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W przewlekłej chorobie ziarniniakowej obserwuje się inne autoimmunologiczne powikłania, takie jak autoimmunologiczna małopłytkowość, młodzieńcze zapalenie stawów czy też toczeń rumieniowaty układowy (zwłaszcza w postaci związanej z chromosomem X).  
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KATEGORIA: IMMUNOLOGIA KLINICZNA, GENETYKA KLINICZNA, CHOROBY WEWNĘTRZNE</div>
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TAGI: Хронический гранулематозный болезни (с английского. ХГБ) определяет группу расстройств окислительного метаболизма гранулоцитов (нейтрофилов) и моноцитов. Хронический гранулематозный болезнь встречается редко - в настоящее время заболеваемость определяется как 1 случай на 200 000 человек. Часто КГД наследуется рецессивным признаком, связанный с Х-хромосомы, в то время как почти 30% случаев наследования аутосомно-рецессивный. 1. Хронический гранулематозный болезни - причины, лежащие в основе заболевания мутации в генах, отвечающих 4 белков, расположенных на мембранной plazmatyczej (они применяются ко всем пациентам с ХГБ). Два белка в плазматической мембране образуют гетеродимер цитохрома б-558 (91 кДа белка в соответствующей CGD аномальной хромосомы X и белка отсутствует в одном из вариантов аутосомно-рецессивным 22-кДа). Два другие белки имеют в основном цитоплазматический и после активации клеток с цитохромом взаимодействуют с образованием NADPH-оксидаза требуется для получения пероксида водорода (47 кДа белка и 67 кДа ненормального в других формах аутосомно-рецессивным). 2. ХГБ - Симптомы лейкоциты больных с ХГБ значительно сократили производство Н2О2. Люди, страдающие от ХГБ имеют повышенный уровень заболеваемости Характерно каталаза-положительные микроорганизмы (уничтожающие его H2O2). Инфекции у пациентов с этим заболеванием часто обширная и включает лимфатические узлы, несмотря на использование соответствующих антибиотиков. Обычно там афтозный язвы и хронические ноздри. Гранулемы часто возникают, которое может привести к непроходимости кишечника и мочеполовой тракт. Обширные воспалительные реакции, скорее всего, является отражением нарушений в работе воспаления из-за отсутствия разрушения хемотаксических факторов и антигенов, что приводит к непрерывному накоплению нейтрофилов. Затронутые внутриклеточное уничтожение бактерий макрофагами может привести к заправке клеточный ответ и образование гранулемы. 3. ХГБ - заболевания, связанные в ХГБ наблюдается в других аутоиммунных осложнений, таких как аутоиммунные тромбоцитопении, ювенильный артрит или системная красная волчанка (особенно по сравнению с Х-хромосомой). КАТЕГОРИИ: клинической иммунологии клинической генетики, ЗДОРОВЬЕ ЖИЗНЬ La enfermedad granulomatosa crónica (con Inglés. La enfermedad granulomatosa crónica) define un grupo de trastornos del metabolismo oxidativo de los granulocitos (neutrófilos y monocitos). La enfermedad granulomatosa crónica rara vez se encuentra - en la actualidad la incidencia se define como 1 caso por cada 200.000 personas. Frecuentes CGD se hereda rasgo recesivo ligado al cromosoma X, mientras que casi el 30% de los casos de herencia es autosómica recesiva. 1. La enfermedad granulomatosa crónica - enfermedades causas subyacentes son las mutaciones en los genes correspondientes a 4 proteínas localizadas en la membrana plazmatyczej (que se aplican a todos los pacientes con enfermedad granulomatosa crónica). Dos proteínas en la membrana plasmática forman un heterodímero de citocromo b-558 (91 kDa proteína en el cromosoma anormal CGD relacionados con X y la proteína de 22-kDa ausente en una forma de realización autosómica recesiva). Otros dos proteínas son principalmente citoplasmática de y después de la activación de células con citocromo interactúan para formar NADPH oxidasa se requiere para la producción de peróxido de hidrógeno (47 kDa proteína y 67 kDa anormal en otras formas de autosómica recesiva). 2. enfermedad granulomatosa crónica - Síntomas leucocitos de los pacientes con enfermedad granulomatosa crónica han reducido de manera significativa la producción de H2O2. Las personas que sufren de la enfermedad granulomatosa crónica tienen una mayor incidencia de la infección característicamente microorganismos catalasa-positivos (destruyendo su H2O2). Las infecciones en pacientes con esta enfermedad son a menudo extensos e incluyen ganglios linfáticos, a pesar del uso de antibióticos apropiados. Normalmente hay aftosa úlceras crónicas y las fosas nasales. Los granulomas a menudo se producen, lo que puede causar una obstrucción intestinal y el tracto genitourinario. Respuestas inflamatorias extensas es probable que sean un reflejo de la mal funcionamiento de la inflamación debido a la ausencia de destrucción de factores quimiotácticos y antígenos, lo que resulta en la acumulación continua de los neutrófilos. Afectado a la destrucción intracelular de las bacterias por los macrófagos puede conducir a enhebrar una respuesta celular y la formación de granulomas. 3. granulomatosa crónica de la enfermedad - Enfermedades asociadas en la enfermedad granulomatosa crónica se observa en otras complicaciones autoinmunes como la trombocitopenia autoinmune, la artritis juvenil o el lupus eritematoso sistémico (en especial en lo relacionado con el cromosoma X). CATEGORÍA: inmunología clínica, genética clínica, ASUNTOS DE SALUD Granulomatose chronique (avec l'anglais. Maladie granulomateuse chronique) définit un groupe de troubles du métabolisme oxydatif des granulocytes (neutrophiles et les monocytes). Granulomatose chronique est rarement rencontré - actuellement l'incidence est définie comme 1 cas pour 200 000 personnes. Foire CGD est hérité trait récessif lié au chromosome X, alors que près de 30% des cas de transmission est autosomique récessif. 1. la granulomatose chronique - les maladies causes sous-jacentes sont des mutations dans les gènes correspondant à 4 protéines situées sur la membrane de plazmatyczej (ils appliquent à tous les patients atteints de granulomatose chronique). Deux protéines dans la membrane de plasma forment un hétérodimère de cytochrome b-558 (91 kDa dans le chromosome anormal lié CGD X et la protéine 22-kDa absent dans une transmission autosomique récessive mode de réalisation). Deux autres protéines sont principalement des cytoplasmique et après l'activation des cellules avec le cytochrome interagissent pour former la NADPH oxydase est requis pour la production de peroxyde d'hydrogène (47 kDa et 67 kDa anormal dans les autres formes de transmission autosomique récessive). 2. maladie chronique granulomateuse - Symptômes leucocytes de patients atteints de granulomatose chronique ont considérablement réduit la production de H2O2. Les personnes souffrant de granulomatose chronique ont une incidence accrue d'infection caractéristique des microorganismes catalase-positifs (détruire son H2O2). Infections chez les patients atteints de cette maladie sont souvent vastes et comprennent les ganglions lymphatiques, en dépit de l'utilisation des antibiotiques appropriés. Normalement, il ulcères aphteux et les narines chroniques. Granulomes se produisent souvent, ce qui peut provoquer une obstruction intestinale et des voies génito-urinaires. Les réponses inflammatoires étendues sont susceptibles d'être le reflet d'un dysfonctionnement de l'inflammation due à l'absence de destruction de facteurs chimiotactiques et des antigènes, ce qui conduit à l'accumulation continue de neutrophiles. Affecté la destruction intracellulaire des bactéries par les macrophages peut conduire à enfiler une réponse cellulaire et la formation de granulomes. 3. granulomatose chronique maladie - MALADIES ASSOCIEES dans une granulomatose chronique observé dans d'autres complications auto-immunes telles que la thrombopénie auto-immune, l'arthrite juvénile ou le lupus érythémateux systémique (notamment liée au chromosome X). CATÉGORIE: immunologie clinique, la génétique clinique, affaires sanitaires Chronische Granulomatose (mit englischen. Chronische Granulomatose) definiert eine Gruppe von Erkrankungen des oxidativen Stoffwechsels von Granulozyten (Neutrophile) und Monozyten. Chronische Granulomatose ist selten anzutreffen - derzeit die Häufigkeit als 1 Fall pro 200.000 Menschen definiert. Häufig CGD vererbt rezessiv auf Chromosom X verbunden sind, während fast 30% der Fälle der Vererbung ist autosomal-rezessiv. 1. chronische Granulomatose - Verursacht Grunderkrankungen sind Mutationen in den Genen entsprechend 4 Proteine auf der Membran plazmatyczej befindet (sie gelten für alle Patienten mit chronischer Granulomatose). Zwei Proteine in der Plasmamembran bilden ein Heterodimer von Cytochrom b-558 (91 kDa-Protein in der CGD Zusammenhang anormale Chromosom X und das 22-kDa-Protein in einer Ausführungsform autosomal rezessive fehlt). Zwei weitere Proteine sind vor allem cytoplasmatischen und nach Zellaktivierung in Wechselwirkung mit Cytochrom zu bilden NADPH-Oxidase zur Herstellung von Wasserstoffperoxid (47 kDa-Protein und 67-kDa abnormal in anderen Formen der autosomal rezessiv) erforderlich. 2. chronische Granulomatose - Symptome Leukozyten von Patienten mit chronischer Granulomatose haben deutlich reduziert die Produktion von H2O2. Menschen mit chronischen Granulomatose haben eine erhöhte Inzidenz von Infektionen charakteristisch Katalase-positive Mikroorganismen (Zerstörung ihrer H2O2). Infektionen bei Patienten mit dieser Krankheit sind oft umfangreiche und sind Lymphknoten, trotz der Verwendung von geeigneten Antibiotika. Normalerweise gibt Aphthen und chronische Nasenlöchern. Granulome häufig auftreten, die Darmverschluss und Urogenitaltrakt verursachen können. Umfangreiche entzündliche Reaktionen sind wegen der Abwesenheit der Zerstörung der chemotaktischen Faktoren und Antigenen, die in kontinuierlichen Anhäufung von Neutrophilen führt wahrscheinlich eine Reflexion des von der Störung der Entzündung. Beeinflusst die intrazelluläre Zerstörung von Bakterien durch Makrophagen kann auf Einfädeln einer zellulären Reaktion und die Bildung von Granulomen führen. 3. Chronische Granulomatose - Erkrankungen bei chronischen bei anderen Autoimmunkomplikationen wie Autoimmun-Thrombozytopenie, juvenile Arthritis oder systemischer Lupus erythematosus (insbesondere im Zusammenhang mit dem X-Chromosom) beobachtet granulomatösen Erkrankungen. KATEGORIE: Klinische Immunologie, Klinische Genetik, Gesundheit Angelegenheiten Chronic granulomatous disease (with English. Chronic granulomatous disease) defines a group of disorders of oxidative metabolism of granulocytes (neutrophils) and monocytes. Chronic granulomatous disease is rarely encountered - currently the incidence is defined as 1 case per 200,000 people. Frequently CGD is inherited recessive trait linked to chromosome X, while almost 30% of cases of inheritance is autosomal recessive. 1. Chronic granulomatous disease - CAUSES Underlying diseases are mutations in the genes corresponding to 4 proteins located on the membrane plazmatyczej (they apply to all patients with chronic granulomatous disease). Two proteins in the plasma membrane form a heterodimer of cytochrome b-558 (91 kDa protein in the CGD related abnormal chromosome X and the 22-kDa protein absent in one embodiment autosomal recessive). Two other proteins are of primarily cytoplasmic and after cell activation with cytochrome interact to form NADPH oxidase is required for the production of hydrogen peroxide (47 kDa protein and 67 kDa abnormal in other forms of autosomal recessive). 2. Chronic granulomatous disease - Symptoms leukocytes from patients with chronic granulomatous disease have significantly reduced the production of H2O2. People suffering from chronic granulomatous disease have an increased incidence of infection characteristically catalase-positive microorganisms (destroying its H2O2). Infections in patients with this disease are often extensive and include lymph nodes, despite the use of appropriate antibiotics. Normally there aphthous ulcers and chronic nostrils. Granulomas often occur, which may cause intestinal obstruction and genitourinary tract. Extensive inflammatory responses are likely to be a reflection of the malfunctioning of the inflammation due to the absence of destruction of chemotactic factors and antigens, which results in continuous accumulation of neutrophils. Affected the intracellular destruction of bacteria by macrophages can lead to threading a cellular response and the formation of granulomas. 3. Chronic granulomatous disease - DISEASES ASSOCIATED in chronic granulomatous disease observed in other autoimmune complications such as autoimmune thrombocytopenia, juvenile arthritis or systemic lupus erythematosus (especially as related to the X chromosome). CATEGORY: CLINICAL IMMUNOLOGY, CLINICAL GENETICS, HEALTH AFFAIRS 3 chronic diseases 3 respiratory
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PRZEWLEKŁA CHOROBA ZIARNINIAKOWA (CGD z ang. CHRONIC GRANULOMATOUS DISEASE)

Przewlekła choroba ziarniniakowa (z ang. chronic granulomatous disease) określa pewną grupę zaburzeń metabolizmu oksydacyjnego granulocytów (neutrofili) oraz monocytów. Przewlekła choroba ziarniniakow…

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