CYSTIC FIBROSIS SHAHIN

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

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CYSTIC FIBROSIS SHAHIN

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