Coeliac Disease
Also known as coeliac sprue or gluten-induced enteropathy, this is an autoimmune disease that occurs as a response to the ingestion of gluten containing foods such as wheat, barley and rye. The intake of these causes a response which triggers inflammation of the small intestines. When this process occurs constantly and over time, the intestines are damaged and are unable to effectively digest foods causing a condition known as malabsorption.
The precise cause of coeliac disease is unknown but there is evidence to suggest a genetic component. There is a high probability of developing coeliac disease in individuals who come from families where there are individuals with coeliac, dermatitis herpetiformis, type 1 diabetes and Addison’s disease.
How does Coeliac disease present?
- Nausea and vomiting
- Chronic diarrhoea
- Abdominal swelling and bloating
- Chronic constipation
- Pale, bulky, foul-smelling stools
- Iron deficiency
- Inability to thrive even with adequate food intake
- Short stature and delayed puberty
What happens after a diagnosis is made?
Blood tests will be performed first to help diagnosing Coeliac disease followed by a referral to a Paediatric Gastroenterologist. After the diagnosis of coeliac disease is made, your child will be put on a regular calendar visit to the hospital. The first specialist who will be in contact with your child is a Nutritionist who will ensure that the strict diet given by the physician is followed, they will also check if there is any worsening or lessening of the condition.
Annual blood test screening including for other autoimmune conditions will be checked to look for any other conditions that occur together with coeliac disease.
Should I Start A Gluten-Free Diet On Suspicion Of Coeliac Disease?
Do not start any diet until the doctor fully confirms the diagnosis. If a gluten free diet is begun by an individual who has coeliac disease, healing of the intestines may occur giving a false negative when the biopsy is done. It is therefore important that you wait for a confirmation of the diagnosis at least before a biopsy is done.
How to Fill the Nutritional Gap
Since coeliac disease damages the intestines, there may be a problem with absorbing certain nutrients, iron and vitamins. Here are some foods you can take to fill the nutritional gap:
Iron: Red meat is a really great source of iron. Other sources of iron are spinach, white bean, lentils, tofu, chickpeas and cashews.
Vitamin D: A great source of vitamin D is dairy, salmon, sardines, kale, tofu and oranges.
Vitamin B: Foods such as beans, lentils, spinach and broccoli.
You can also give your child supplements and probiotics daily. Consult our dietician which supplements are best for your child. The major modality of treatment is a limitation on gluten ingestion. This allows the intestines to heal and restore function.
Consult our Paediatricians or Paediatric Gastroenterologist ( Dr Thacker) and our dietician Ms Thacker at Kids Health Space for further management.
Cystic Fibrosis
This is a condition that affects the glands in the body. The most commonly affected glands are the pancreas and the lungs. Cystic fibrosis is transmitted through an autosomal recessive gene which means that an individual copy of the mutated gene is passed down from each parent for the condition to occur in an offspring.
The mechanism of disease causation revolves around the CFTR gene which produces a protein required in the balance of salt and water on the surface of the lung and other body parts. Failure or mutation of this gene causes the formation of sticky, thick mucus which clogs the lungs and the ducts of the pancreas.
When the bronchi or airspaces in the lung are blocked, they create a foci where bacteria grow causing infection. In the pancreas, the thick mucus causes the failure of release of digestive enzymes causing indigestion.
This then causes the following symptoms:
- Frequent lung infections
- Recurrent sinusitis
- Long lasting respiratory issues such as constantly coughing up mucus
- Salty skin
- Constipation
- Poor growth and weight gain even with adequate nutrition
- Finger clubbing
- Dehydration and rarely nasal polyps and male infertility
Diagnosis of cystic fibrosis
With the advent of newborn screening, diagnosis is made earlier thus allowing for effective interventions that inadvertently cause the increase in length and quality of life. In children and teens, a sweat chloride test may be done on suspicion. This is a non-invasive, painless effective screening modality.
A genetic test may also be done from a blood sample if there is a high index of suspicion that the parents are carriers.
Treatment of Cystic Fibrosis
Nutritional Modification
The challenge with cystic fibrosis and digestion lies in the fact that the sticky mucus in cystic fibrosis prevents uptake of digestive enzymes to aid the digestive process. What happens then is that there is an apparent inability to emulsify fats leading to mal-absorption and the passage of bulky foul-smelling stool. In order to curb this, our team of paediatric dieticians will curate a diet that will be low in fat while at the same time able to serve the body with the required calories.
Additionally, pancreatic enzyme replacement therapy is also a well-researched plan that aims at giving the body an enzyme similar to pancreatic enzyme to aid the digestive process.
Respiratory therapy
This is aimed at ensuring your child knows how to effectively clear mucus from their body. Our doctors will also guide on the use of inhalers to deliver medicine to the respiratory tract.
CFTR modulator treatments
This is by far the newest of the treatment options in the market. In this treatment modality, our gene experts will do a thorough investigation of the gene mutation after which gene targeted therapy is initiated to work on the mutated gene in a bid to enable it to retain function.
In the past cystic fibrosis was considered a life-shortening disease but with the advent of molecular diagnosis and gene therapy, more and more children are able to live long and even pain-free lives. Fitness training may also be effective and medications such as antibiotics for the frequent infections and anti-inflammatories may be given to increase the quality of life.
If you are a carrier of the CFTR gene, contact our Paediatricians at Kids Health Space for guidance and further management.