A four-month-old infant that had been admitted to Hospital earlier in the day. The baby's parents had brought young boy to the emergency room because he had been suffering from a chronic cough with mucous secretion and Fatty diarrhea for almost a week. In addition, they said that sometimes would "wheeze" a lot more than they thought was normal for a child with a cold. Their pediatrician had told them that child had a cold and would be better in a few days.
Upon arriving at the emergency room, the attending pediatrician detected a possible ear infection and noted that salt crystals were present on his skin. Chest auscultation revealed the presence of rhonchi in the right upper lobe (RUL) of the lung. Abdominal examination reveled meconeum ileus The attending pediatrician had admitted immediately and called a pediatric pulmonologist and genetic advisor to talk to the parents Lab diagnosis of the Mucus revealed non-lactose fermenting colonies, oxidase positive, a typical metallic sheen of the growth on TSI agar, coupled with the blue-green pigment on ordinary nutrient agar and fruity aroma.
What is the disease child is suffering from? What is the cause of the disease? How do you confirm the diagnosis? What are the complications of the disease and systems involved? Which Microorganism is involved With CF? What is the Treatment?
Bronchitis Asthma Infectious Diarrhea Cystic Fibrosis
What is cystic fibrosis
Cystic fibrosis or mucoviscoidosis is a hereditary disease that affects mainly the exocrine (mucus) glands of the lungs, liver, pancreas, and intestines, and Urogenital system causing progressive disability due to multisystem failure
What is the Genetic Defect
Cystic fibrosis occurs when there is a mutation in the CFTR gene. The protein created by this gene is anchored to the outer membrane of cells in the sweat glands lungs, pancreas, and other affected organs. The Cl channel is primarily responsible for controlling the movement of chloride from inside to outside of the cell. When the CFTR protein does not work, chloride is trapped inside the cell in the lung and outside in the skin.
Theory suggests that the lack of chloride exodus through the CFTR protein leads to the accumulation of more viscous, nutrient-rich mucus in the lungs that allows bacteria to hide from the body's immune system.
How do you confirm the Diagnosis
Salt test Due to the failure of Na-Cl channel there is combination of sodium and chloride which creates the salt in extra cellular space, which is lost in high amounts in the sweat of individuals with CF. This lost salt forms the basis for the sweat test. 2. Meconeum ileus 3. lab diagnosis if microorganism involved
What are the complications and System involved?
Respiratory System Gastrointestinal tract Urogenital system
Infections are the commonest complication for all system
This organism can cause infections anywhere in the body, but urinary tract infections, pneumonia in cystic fibrosis and wounds. severe external otitis other skin lesions like Ecthyma gangrenosum osteochondritis of foot Corneal infection in contact lens users
A word about P. aeruginosa
Lactose Non-fermenter Oxidase positive Grow in water containing only traces of nutrients Produce two pigments: Pyocyanin pyoverdin
For cystic fibrosis without infection
Intrapulmonary percussive ventilator Biphasic Ventilators
Infection with P. aeruginosa
Antipsudomonal Ticarcillin Piperacillin Gentamicin or
For diarrhea Fluid and Electrolyte
Gene therapy Hormone therapy