HBS3001 CDM PART C

CYSTIC FIBROSIS M O T H E R

&

B A B Y

E D I T I O N

M A G A Z I N E

ISSUE 12 TIPS FOR MOMMIES WITH CF BABY

THE SCIENCE BEHIND CF

HBS3001 PART C

CYSTIC FIBROSIS PUBLISHED NOV 12, 2023 • 10 MINS READ

INTRODUCTION >

WHAT IS CYSTIC FIBROSIS?

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ABOUT CFTR GENE MUTATIONS here are many different mutations in the CFTR gene. One of the most common mutations is Delta F508, which involves deleting an amino acid in the gene.

Due to the absence of this crucial component, the CFTR protein structure is disrupted and is unable to maintain its functioning shape.

This disrupts the movement of chloride and other ions leading to the thickening and stickiness of mucus, affecting fluidsecreting glands in various organs such as

https://www.genetics.edu.au/SitePages/Autosomal-recessive-inheritance.aspx

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ystic fibrosis (CF) holds the distinction of

the lungs, pancreas, intestines, gallbladder, and reproductive systems.

https://www.yourgenome.org/facts/what-is-cystic-fibrosis/

being the most common autosomal recessive disorder in Australia, with research indicating that roughly 1 in 2,500 newborns in the country are affected by CF. This genetic condition is the result of mutations in the membrane protein called the cystic fibrosis transmembrane conductance regulator (CFTR).

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PROCESS ithout the CFTR function, an imbalance of salt and water may result in many airway surfaces, specifically the lungs.

The airways become dry, making it hard for mucus to move out. Think of mucus as a sticky trap for germs. Without enough moisture to clear it away, the germs get stuck, increasing chances of bacterial infections and inflammation in your child's airways.

https://en.wikipedia.org/wiki/Chromosome_7

The CFTR protein is predominantly located in the cell's plasma membrane, and the root cause of CF lies in a malfunction of the CFTR gene situated on chromosome 7.

Medical News | Issue 12 | 1

https://commons.wikimedia.org/wiki/File:Cysticfibrosis01.jpg

DID YOU KNOW..

Infants undergo testing for cystic fibrosis soon after birth, enabling doctors to detect the condition at an early stage.

This early discovery allows for better treatment and helps improve the lives of babies with this condition.

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SYMPTOMS OF CF t is important to be aware of potential signs of CF in babies.

Watch out for respiratory symptoms like a persistent cough, thick mucus, wheezing, and shortness of breath.

As your child grows, adolescents with CF may experience delayed puberty due to malnutrition.

Keep an eye out for dehydration signs, and notice if your child develops clubbed fingertips and toes.

Additionally, salty skin, foul-smelling stools, and recurrent lung infections are common indicators.

If you notice any of these symptoms, it is crucial to consult with a healthcare professional for a thorough evaluation and guidance. Your vigilance can make a significant difference in managing your child's health during the early stages.

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TREATMENTS abies with cystic fibrosis may receive treatments like enzyme supplements for digestion, a special growth-focused diet, airway clearance methods for mucus, and medications to manage symptoms. Regular check-ups and family education are also important for baby care.

Enzyme supplements for digestion Supplements for infants with CF enhance food digestion by providing enzymes to break down nutrients, to address the challenge of nutrient absorption caused by pancreatic

Bronchial airway drainage Use methods like gentle tapping or specific positioning to clear mucus from a baby's small airways, helping them breathe better.

Medications Doctors may prescribe infant medicines to manage symptoms and prevent complications, including antibiotics for lung infection, bronchodilator inhalers to open airways, and mucolytics to thin the mucus.

insufficiency.

The types of CF symptoms and their severity can differ widely.

CARING FOR YOU AND YOUR BABY LEARN MORE >

Therefore, it is recognised that each treatment plan is tailored to each person's unique needs.

Therapies include: Nebulizer Nutritional Plans Pancreatic Enzyme Supplements Physiotherapy for kids

Medical News | Issue 12 | 2

How To Cope Effectively?

Recognised stress Talk to your child’s care team Set routines Connect with other parents of children with CF

Li Ting, Ya Ting, Hazreen, Marilyn