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6381008
CYSTIC FIBROSIS SHAHIN
Descrição
MIND MAPPING
Mapa Mental por
shahin kadiri
, atualizado more than 1 year ago
Mais
Menos
Criado por
shahin kadiri
quase 8 anos atrás
15
1
0
Resumo de Recurso
CYSTIC FIBROSIS SHAHIN
Autosomal Recessive
Mutation In CFTR gene
CFTR protein
Channel Protein
Pumps Cloride (CL)
Production of Sweat , Digestive fluids and mucus
Mutation
ΔF508
Deletion Of Phenylalanine on the 508/1408 Amino Acid
CFTR Protein Is misfolded
No Migration from the ER TO CM , so no Chloride ions out
NEW BORN BABIES
Meconium Ileus
Meconium : First stool
Stuck In Babies intestine
Surgical emergency
EARLY CHILDHOOD
Blocked pancreatic ducts
NO PANCREATIC ENZYME
NO ABSORBTION OF FATS AND PROTEINS
steatorrhoea : stool with fat containing
FIX PANCREATIC ENZYMES
LATER IN CHILDHOOD
LUNGS PROBLEMS
Cilia can't get rid of all the mucus
Bacteria Increase
COUGH
FEVER
ANTIBIOTICS
RESISTANT
Biofilm
Protects Bacteria
IMMUNE SYSTEM
ANTIBIOTICS
BATCERIA
Staphelococcus Auerus
+
Psedomanus
-
inflamation
CHROIONIC
BRONCHIETASIS
DIALATION OF BRONCHI
COUGHING BLOOD
IN MEN
INFERTILITY
LACK OF VAS DEFERNS
TUBES BETWEEN TESTIS AND URETHRA
DIGITAL CUBBINGS
NAILS
NASAL POLYPS
TISSUE GROWS IN NOSE
DIAGNOSIS
NEW BORN SCREENING
DETECT P.E IRT
RELEASED IN BLOOD WHEN PANCREAS IS DAMAGED
SWEAT TEST
HIGH CL SKIN TASTY
Treatment
FAT SOLUBLE VITAMINS ( A, D, E , K )
REPLACEMENT OF P.E
INHALERS , CHEST PHYSIOTHERAPY
LUNG TRANSPLANT
LUMACAFTOR & IUCAFTOR
BRINGS BACK ΔF508
Medications
N-ACETYLCYSTEINE
CLEARS DISULFADE BONDS
DORMASE ALFA-NUCLEASE
CUTS NUCLEIC ACID IN MUCUS SO IT BECOMES THIN
SYMPTOMS
WHAT IS IT?
RECESSIVE MUTATION IN CFTR GENE THAT ENCODES FOR CFTR PROTEIN
CFTR PROTEIN
A PROTEIN CHANNEL PUMPS CL
MOST COMMON MUTATION IS ΔF508/1408
DELETION OF PHENYLALANINE ON THE 508TH AMINO ACID
CFTR PROTEIN IS MISFOLDED NO MORE PUMPING CL
LEVEL OF CF
NEWBORN BABY
INTESTINE
STUCK BECAUSE OF THE THICKNESS OF THE FIRST STOOL IN THE INTESTINE
MECANIUM
MECAMIUM ILEUS
EARLY CHILDHOOD
PANCREAS
FATS AND PROTEINS AREN'T ABSORBED
STEATORRHEA
FAT CONTAINING STOOL ( ITS NOT ABOSRBED SO GOES OUT AS A STOOL )
LATE CHILDHOOD
LUNGS
CILIA FINDS IT DIFFICULT TO KICK MUCUS OUT TO PHARNYX
A LOT OF MUCUS CAUSES BACTERIA ACCUMILATION
INFECTIONS
COUGH AND FEVER
ANTIBIOTICS
MEN
VAS DEFERES
INFERTILITY LACK OF SPERM TUBES FROM TESTIS TO URETHRA
DIGITAL CUBBINGS
NAILS
NASAL POLYPS
TISSUE GROWTH IN NOSE
DIAGNOSIS
NEWBORN SCREENING
IRT RELEASED TO BLOOD WHEN PANCREASE IS DAMAGED
SWEAT TESTING
TREATMENT
FAT SOLUBLE VITAMINS
REPLACEMENT OF PANCREATIC ENZYMES HELPS PATIENT ABSORB NEUTRIENTS
MEDICATIONS
N-ACETYLCYSTEINE
DORANSE ALFA NUCLEASE
LUMACAFTOR AND IUCAFTOR HELPS ΔF508 TO WORK BACK AGAIN
PULMONARY TREATMENT
CHEST PHYSIOTHERAPY
INHALERS
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