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Organmanifestation
- 2. Organmanifestation Welche Organe sind besonders von der Erkrankung betroffen?
- 3. Betroffene Organe : Atemwege Zäher Schleim Infektionen und Inflammation Leber, Gallenwege biliäre Leberzirrhose Pankreas Pankreasinsuffizienz Diabetes Dünn- + Dickdarm Obstruktion Fettreicher Stuhl Reproduktionsorgane Infertilität Haut Schweißdrüsen sezernieren massiv NaCl
- 4. Pathophysiologie gestörter Chlorid- transport hoch visköse Sekrete Schweiß mit hohem Salzgehalt neonatal Darmverschluss durch Mykonium Mykoniumileus Lunge Gestörte mukoziliäre Clearance Chronische Pneumonie Insuffizienz der Lunge Cor pulmonale Darm Verstopfung Distale intestinale Obstruktion Pankreas Verstopfung der exokrinen Ausführungsgänge Fibrosierung des Pankreas Maldigestion Gedeihstörung Diabetes mellitus Leber Gallengangverlegung Gallensteine Leberzirrhose Pfortaderhochdruck Ductus deferens Verschluss Azoospermie Fertilisationsstörung Salzverlustsyndrom v.a bei Fieber und Hitze
- 8. CF- Organbefall Leberzirrhose Fehlfunktion der Bauchspeicheldrüse Verdauungsstörungen Mangelernährung Gallensteine Männer meist unfruchtbar Diagnose: Schweißtest häufig wiederkehrende Lungeninfekte
- 11. Rectum-Prolaps
- 12. CF- Organbefall
- 13. Leberzirrhose
- 14. Sandra, 4 Jahre alt, CF Biliäre Zirrhose Ösophagus-Varizen Ascites
- 17. CF- Organbefall
- 21. CF- Organbefall
- 23. CF- Organbefall
- 31. Vielen Dank!
Notes de l'éditeur
- Die Bartholini'schen Drüsen befinden sich im hinteren Drittel der großen Schamlippen und münden beidseits des Scheidenvorhofes und dienen der Befeuchtung des Schambereichs beim Geschlechtsverkehr. Der Samenleiter ( Ductus deferens , auch Spermienleiter genannt) verbindet bei männlichen Säugetieren , Vögeln und Reptilien den Nebenhoden mit der Harnröhre und dient der Weiterleitung der Spermien . Azospermie – Fehlen reifer Spermien Gallengangverlegung, Obstruktion/Verstopfung des Gallengangs durch viskösen Sekretpfropfen biliär – die Galle betreffend
- Brustkyphose = durch veränderten Winkel „Abkicken“ des Halswirbels bildet sich sogenannter „Buckel“
- Die Bartholin 'schen Drüsen befinden sich im hinteren Drittel der großen Schamlippen und münden beidseits des Scheidenvorhofes und dienen der Befeuchtung des Schambereichs beim Geschlechtsverkehr. Der Samenleiter ( Ductus deferens , auch Spermienleiter genannt) verbindet bei männlichen Säugetieren , Vögeln und Reptilien den Nebenhoden mit der Harnröhre und dient der Weiterleitung der Spermien .
- Phenotypic expression of CF disease is extremely heterogenous. There is considerable age-related variability, and the severity of disease in specific organs varies considerably within and between patients with CF. In some affected organs, phenotypic variability is tightly linked to genotype. In others, modifier genes and extrinsic factors (environmental, therapeutic and iatrogenic) clearly influence disease heterogeneity.
- Phenotypic expression of CF disease is extremely heterogenous. There is considerable age-related variability, and the severity of disease in specific organs varies considerably within and between patients with CF. In some affected organs, phenotypic variability is tightly linked to genotype. In others, modifier genes and extrinsic factors (environmental, therapeutic and iatrogenic) clearly influence disease heterogeneity.
- Phenotypic expression of CF disease is extremely heterogenous. There is considerable age-related variability, and the severity of disease in specific organs varies considerably within and between patients with CF. In some affected organs, phenotypic variability is tightly linked to genotype. In others, modifier genes and extrinsic factors (environmental, therapeutic and iatrogenic) clearly influence disease heterogeneity.
- In health, hepatocytes immediately abutting cholangiocytes in each portal triad are responsible for secreting bile-rich fluid into the small biliary canaliculi. In an elegant study, Dr. Jonathan Cohn demonstrated that CFTR is highly expressed in the adjacent cholangiocytes. As is the case in the ductal cells of the exocrine pancreas, CFTR appears to be responsible for diluting and alkalanizing biliary secretions.
- Absent or dysfunctional CFTR will result in reduced secretion of anions (chloride and bicarbonate) and fluid into the biliary ducts. Consequently, biliary secretions would become concentrated and acidic. Bile acids are known to be highly precipitable under acidic conditions. Histologic studies provide evidence of focal portal tract obstruction with bile duct proliferation and cholangitis. However, this observation doesn’t explain why some patients with CF develop severe, clinically significant CFLD.
- Phenotypic expression of CF disease is extremely heterogenous. There is considerable age-related variability, and the severity of disease in specific organs varies considerably within and between patients with CF. In some affected organs, phenotypic variability is tightly linked to genotype. In others, modifier genes and extrinsic factors (environmental, therapeutic and iatrogenic) clearly influence disease heterogeneity.
- Als Fibrose wird eine Kollagen faservermehrung in menschlichen Geweben und Organen bezeichnet. Kollagenfasern sind eine spezielle Form des Bindegewebes.
- Durch Einwirkung von Magenlipasen erfolgt nur eine geringfügige Teilspaltung der Fette im Magen. Die eigentliche Fettverdauung beginnt im Zwölffingerdarm. Dort münden die Ausführungsgänge der Gallenblase und der Bauchspeicheldrüse. Durch Gallensäfte und -säuren werden die Fette emulgiert, danach durch die Lipase gespalten in Glycerin, Fettsäuren, Mono- und Diglyceride. Die Spaltprodukte werden von Gallensäuren umhüllt (Mizellenbildung), danach erfolgt die Resorption durch die Dünndarmwand.
- Cystic fibrosis was first referred to as “fibro-cystic disease of the pancreas,” which is not too surprising, because, in its most severe form, exocrine pancreatic disease begins to develop in utero. Signs and symptoms of maldigestion are present at birth, or shortly thereafter. In the 50s and 60s, most patients with CF died of malnutrition before significant lung disease had developed. The term “fibrocystic” disease is based upon the pathological appearance of the pancreas—which is characterized by cystic ductal dilatation and acinar atrophy. How does CF exocrine pancreatic disease develop? While there is evidence of secondary abnormalities of acinar cell secretion and cellular reuptake of zymogen granule proteins, the ability of the CF pancreas to secrete enzymes does not appear to be compromised and may even be enhanced. Thus, in the early stages, large quantities of highly concentrated protein are secreted via the acinar lumen into the small duct. Absent or defective CFTR function in ductal cells greatly chloride and bicarbonate entry into the duct lumen and as a consequence there is a reduced fluid flow. Thus, pancreatic secretions contain highly concentrated protein. CF mouse and in vitro studies show that ductal secretions from the CF pancreas are more acidic. Histologic studies show inspissated secretions due to precipitation of protein within small ducts. Ductal obstruction results in progressive cellular damage, acinar atrophy and parenchymal replacement with fat and fibrous tissue. The serum immunoreactive trypsinogen test (IRT), used in newborn screening for CF, is a reflection of this pathologic process. Serum trypsinogen levels are extremely high in the newborn period but, in patients with PI, values drop to zero, usually within seven years.
- Phenotypic expression of CF disease is extremely heterogenous. There is considerable age-related variability, and the severity of disease in specific organs varies considerably within and between patients with CF. In some affected organs, phenotypic variability is tightly linked to genotype. In others, modifier genes and extrinsic factors (environmental, therapeutic and iatrogenic) clearly influence disease heterogeneity.
- Obstructive azoospermia is a general descriptor for infertility in men that is caused by some form of obstruction within the mesonephric ductal system. Congenital bilateral absence of the vas deferens (CBAVD) is the most severe form of obstructive azoospermia. There is a strong association between mutations in the CFTR gene and various forms of obstructive azoospermia. Infertility due to obstructive azoospermia is virtually universal in men with classic and nonclassic CF. While obstructive azoospermia is a relatively uncommon cause of infertility in otherwise healthy men, the majority of these men carry CFTR gene mutations on one or both alleles. All patients with CFTR mutations on both alleles, carry at least one mild class IV or class V mutation. The proportion of these men who carry a diagnosis of CF or have evidence of CFTR-regulated ion channel abnormalities has received surprisingly limited attention.
- Phenotypic expression of CF disease is extremely heterogenous. There is considerable age-related variability, and the severity of disease in specific organs varies considerably within and between patients with CF. In some affected organs, phenotypic variability is tightly linked to genotype. In others, modifier genes and extrinsic factors (environmental, therapeutic and iatrogenic) clearly influence disease heterogeneity.
- Als Fibrose wird eine Kollagen faservermehrung in menschlichen Geweben und Organen bezeichnet. Kollagenfasern sind eine spezielle Form des Bindegewebes.
- Epithelzellen sind mit Flüssigkeitsfilm (ASL = airway surface liquid) unterschiedlicher Viskosität benetzt PLL (= periciliar liquid layer) periziliäre Sol-Phase mit Wasseranteil von 90% hochvisköse Gel-Phase (Mucus) mit Muzinen, Proteinen, Glycanen, Lipiden - klebrig zum Entfernen von Fremdstoffen in der Sol-Phase schlagen die Flimmerepithelzellen annährend synchron, Mucus schwimmt wie Korken im Wasser auf der Sol-Phase und transportiert angeklebte Fremdstoffe heraus
- MCT = mukoziliärer Transport