Celiac Disease, PKU, & Allergies Pediatrics Part B NS335 Unit 9 Melinda Boyd, MPH, MHR, RD

Celiac Disease Sensitivity to a flour protein (gluten) Tends to run in families Link to Type 1 DM Biopsy is essential for diagnosis Celiac disease results from a patient’s sensitivity to a flour protein (gluten). Flour is made up of about 10% protein. Celiac disease has many names: gluten (or gluten-induced) enteropathy, nontropical sprue, celiac sprue. This disease tends to run in families. A jejunal biopsy of a patient with celiac disease invariably shows muscle atrophy of the small intestine. The cells, instead of being columnar are squamous (flat). These abnormal cells secrete only small amounts of digestive enzymes. Villi are also lacking in the intestine. www.advgastro.com/Celiac_Disease.htm

Symptoms of Celiac Disease Diarrhea Steatorrhea 2-4 bowel movements daily Loss of appetite and weight Emaciation FTT in children (bloated belly) The symptoms exhibited by a patient with celiac disease are diarrhea, steatorrhea, 2-4 bowel movements daily, loss of appetite and weight, emaciation, FTT in children. Children’s growth is retarded because of the incompetent mucosa, which causes severe malabsorption. When fat is not absorbed, it is moved into the large intestine and becomes emulsified by bile and calcium salts. The odor of the stool is caused by the large amounts of fatty acids. The unabsorbed carbohydrates are fermented by the bacteria in the large intestine, producing gas and occasional cramps. The patient my show malnutrition symptoms including bone pain and tetany, anemia, rough skin, and lowered prothrombin time. Most adult patients have iron and folic acid deficiencies, with microcytic and macrocytic anemias. Symptoms such as cheilosis and glossitis caused by water soluble vitamin deficiencies may also be present. http://www.pigur.co.il/imgceliac/celiac.jpg

Diet Therapy with Celiac Disease Diet is only treatment. There is no cure. The basic principle of diet therapy for celiac disease is to exclude all foods containing gluten-chiefly buckwheat, malt, oats, rye, barley, and wheat. Table 25-1 and 25-2 for a sample food list and menu plan. The basic principle of diet therapy for celiac disease is to exclude all foods containing gluten-chiefly buckwheat, malt, oats, rye, barley, and wheat. The patient’s response to such a regimen is dramatic. A child shows improvement in 1-2 weeks, while an adult can take 1-3 months for visible improvement. In either case, the symptoms gradually disappear. With the child patient there is weight gain, thriving, and diarrhea and steatorrhea clear up. The mucousal changes will also return to normal after a gluten-free diet. Let’s take a look at Table 25-1 and 25-2 for a sample food list and menu plan.

Patient Education Gluten-Free diet Gluten-Free specialty foods Nutritional needs                                    After celiac disease has been diagnosed, patients should be educated about its cause and treatment. Patients who understand this illness are much more likely to follow a prescribed diet. They should first be taught adherence to a gluten free or gluten-restricted diet is essential. If patients also have lactose intolerance, the necessity of avoiding milk and milk products should be reinforced. Patients should be forewarned of the great difficulty in following a gluten restricted diet. Buckwheat, malt, oats, barley, rye, and wheat all contain gluten and are extensively used in different food products. Patients must be taught to read all labels on prepared and packaged foods to ascertain if they contain gluten. Gluten-Free wheat products are commercially available. Potato,rice, corn, soybean flours, and tapioca may be substituted. Aggressive MNT should be considered for the malnourished patient. High amounts of calories, protein, vitamins, and minerals should be the main focus of the diet for the patient. Special attention to K+, magnesium, calcium, and use of MCTs should be included. A gluten-restricted diet may be deficient in thiamin (Vitamin B1) and should include supplements.

Other Helpful Information for Parents Consider purchase of bread machine Separate toaster Separate preparation area (not always needed if clean up is sufficient) Some restaurants have gluten free menu (PF Changs) but also ensure no cross contamination possible Just because there are no symptoms does not mean there is no damage being done. MUST FOLLOW DIET!

For more information… http://www.celiac.com/ some information http://www.glutenfreemall.com/ Has cookbooks, self-help books, food products Check out your local health food/natural food stores (Like Whole Foods, Trader Joes, etc)

Any Questions???

Food Allergies Prevalent in childhood 2-8% of Americans has some form of food allergy Food allergy versus food intolerance Allergy refers to an excess sensitivity to substances or conditions such as food, hair, cloth, biological, chemical, or mechanical agents, emotional excitement, extremes of temperature, and so on. The hypersensitivity and abnormal reactions associated with allergies product various symptoms in affected people. The substance that triggers an allergic reaction is called an allergen or antigen,and it may enter the body through ingestion, injection, respiration, or physical contact. In food allergies, the offending substance is usually, but not always a protein. After digestion, it is absorbed into the circulatory system, where it encounters the body’s immunological system. If this is the first exposure to the antigen, there are no overt clinical signs. Instead, the presence of an allergen causes the body to form immunoglobins. When the body encounters the antigen the second time, the specific antibody will complex with it. The human intestine is coated with the antibody IgA, which protects a person from developing a food allergy. However, infants under 7 months have a lower amount of intestinal IgA. The mucosa thus permits incompletely digested protein molecules to enter. These can then enter the circulation and cause antibodies to form. Food allergies are not age specific, though they are more prevalent in childhood.Half of all adults with a food allergy claim they had a childhood allergy as well. Apparently, a childhood food allergy rarely disappears completely in an adult. If a newborn baby develops hypersensitivity in the first 5-8 days of life, the pregnant mother was probably eating a large quantity of potentially offending foods, such as milk, eggs, chocolate, or wheat. It is also important to differentiate food allergy from food intolerance. Food allergy relates to the immunosystem, and a food intolerance is the direct result of maldigestion and malabsorption due to the lack of intestinal enzymes or an indirect intestinal reaction because of psychological maladjustment. About 2-8% of Americans have some form of food allergy. The clinical management of food allergy is controversial and has many problems.

Difficulties in Allergy Management Even a small amount of the allergy food can cause a reaction Some patients allergic to one item at one time are not at another Some react to an allergen only when they are tired, frustrated, or emotionally upset. People can be allergic to almost any food chemical

Let’ s look up some different allergies Cow’s Milk Allergy Kola Nut Products Eggs Peas / Legumes Citrus Fruits Soy Tomatoes Wheat and other Grains Spices Artificial Food Colors Other offenders are pork, beef, onion, garlic, white potatoes, fish, coffee, shrimp, bananas, walnuts, pecans. Other than those already mentioned, vegetables rarely cause allergic reactions. Fruits that usually are safe include cranberries, blueberries, figs, cherries, apricots, and plums. Chicken, turkey, lamb, and rabbit have been proven to be the safest meats. Tea, olives, sugar, and tapioca are relatively safe foods, although some herbal teas can cause unique difficulties.

http://www. northvalleyallergy. com/_images/foodallergy_connectivity http://www.northvalleyallergy.com/_images/foodallergy_connectivity.jpg

More Information http://www.foodallergy.org/

Questions???

Phenylketonuria (PKU) Phenylketonuria (PKU) is a genetic disorder in which a baby lacks or has very low levels of the enzyme phenylalanine hydroxylase (PAH). www.webmd.com Phenylketonuria (PKU) is a genetic disorder in which a baby lacks or has very low levels of the enzyme phenylalanine hydroxylase (PAH). This enzyme is necessary to convert phenylalanine, an amino acid, into another amino acid called tyrosine after protein is eaten. If PKU is not treated soon after birth, phenylalanine builds up in the bloodstream and brain tissue, causing mental retardation and central nervous system problems. If PKU is treated soon after birth, all or most of these problems can usually be prevented. Each year, about 250 U.S. children get PKU.1 It is more common in whites and Native Americans than in blacks, Hispanics, and Asians.2

Causes… It’s inherited! Thanks Mom & Dad! PKU is an autosomal recessive disease. This means that to have the disease, you must inherit the gene from each parent. If you inherit the gene from only one parent, you are a carrier of PKU but do not have the disease.

Symptoms… Symptoms usually develop within a few months after birth Early symptoms of PKU include a musty odor to the skin, hair, and urine. Babies may lose weight from vomiting and frequent diarrhea, and may be irritable, have skin problems, and be sensitive to light. If not treated the child can become developmentally delayed (DD) Symptoms usually develop within a few months after birth, when phenylalanine has built up in a baby's system from consuming the protein in formula or breast milk. Before birth, the mother's body filters out the excess phenylalanine for the baby (fetus). Early symptoms of PKU include a musty odor to the skin, hair, and urine. Babies may lose weight from vomiting and frequent diarrhea, and may be irritable, have skin problems, and be sensitive to light. If phenylalanine levels increase, an older child may develop unusual behavior, such as screaming episodes, repetitive rocking, head banging, and arm biting. The child may also have growth and developmental delays , frequent seizures, and, if not treated, will become severely mentally retarded.

Diagnosis The Guthrie test – involves analyzing the blood drawn from a child’s heel 46 states mandate that all newborns be screened for PKU. The remaining states practice voluntary screening. All babies born in the United States are tested for PKU within a few days after birth. Phenylalanine levels are measured in a blood sample taken from the baby's heel, called the Guthrie test. The test may be repeated within the first week or two after birth. 46 states mandate that all newborns be screened for PKU. The remaining states practice voluntary screening. The test is normally done 2-5 days after birth. If you have a family history of phenylketonuria, talk with your health professional about genetic testing. If you have a child with PKU, it may be helpful to get genetic counseling if you are considering having another child.

Diet!!!! Treatment Infant formulas: Lofenalac Age-Related: Analog, Maxamaid, Maximum See Table 28-1 Table 28-2 for 1 year olds suggested phenylalanine, energy, and protein intake Exchange Lists for Young Children developed Table 28-4 Has Menu Plan for 9 Month Old The main treatment for PKU is a lifelong, special reduced-protein diet. This helps prevent phenylalanine from building up in the body. But because phenylalanine is needed for normal growth and development, it cannot be completely eliminated from the diet. Early diagnosis and treatment usually prevent injury to the baby's brain and other long-term problems. Since phenylalanine is an essential amino acid, it is found in most animal products including milk, which is the main nutritional component of an infant’s diet. Any formula used should have at least 90% of the phenylalanine removed.

I found this cute graphic which has the point of which foods to choose http://depts.washington.edu/pku/essentials.html

For more PKU information www.pkunews.org http://ghr.nlm.nih.gov/condition=phenylketonuria www.pku.com

Any Questions???