NBS and Detectable Diseases

A nurse is reviewing the diagnostic test findings of a client with a metabolic disorder. Which findings is indicative of galactosemia? a. galactosuria b. high glucose level c. decrease blood galactose level d. decreased SGPT/SGOT and bilirubin

a Galactosemia is a metabolic disorder in which the body cannot properly process galactose, a sugar found in milk and other dairy products. When a person with galactosemia consumes galactose, it is not properly metabolized and can accumulate in the body, leading to various health problems. Galactosuria, or the presence of galactose in the urine, is a characteristic finding in galactosemia. Other laboratory findings in galactosemia may include elevated levels of galactose and its metabolites in the blood, as well as decreased levels of glucose.

A common goal in the early treatment of phenylketonuria and congenital hypothyroidism is to avoid: a. mental retardation b. protein foods c. fever d. obesity

a Phenylketonuria (PKU) is an inherited metabolic disorder in which the body cannot properly process the amino acid phenylalanine. Without treatment, the build-up of phenylalanine can lead to intellectual disability and other neurological problems. Early detection and treatment with a low-phenylalanine diet can prevent these complications. Congenital hypothyroidism is a condition in which the thyroid gland does not produce enough thyroid hormone from birth. Thyroid hormone is important for brain development, and without treatment, congenital hypothyroidism can lead to intellectual disability and other developmental delays. Early detection and treatment with thyroid hormone replacement therapy can prevent these complications. Therefore, the avoidance of mental retardation is a primary goal in the early treatment of phenylketonuria and congenital hypothyroidism.

When discussing congenital adrenal hyperplasia with a child's parents, the nurse would advise them that administration of which drug is anticipated? a. hydrocortisone b. calcium c. vitamin B1 d. levothyroxine

a Congenital adrenal hyperplasia (CAH) is a group of genetic disorders that affect the adrenal glands, which produce hormones that regulate various bodily functions. In CAH, the adrenal glands produce insufficient levels of cortisol and aldosterone, and excess androgen hormones. The primary treatment for CAH is hormone replacement therapy with glucocorticoids, such as hydrocortisone. Hydrocortisone helps to replace the missing cortisol and reduce the excess androgen hormones, which can cause virilization (development of male-like characteristics) in females.

Which of the following menu choice for children with phenylketonuria is correct? a. A hamburger and a diet soda sweetened with aspartame b. A large bowl of dry cereals with strawberries and apple juice c. Steak and mashed potatoes with orange juice d. Milkshake and frilled cheese sandwich

b Children with PKU need to follow a low-phenylalanine diet that limits their intake of these foods. It is a low-protein meal that is suitable for someone with PKU.

From which pair of metabolic disorders must the nurse instruct the parents to eliminate cow's milk from the diet? a. Galactosemia and phenylketonuria b. G6PD and congenital adrenal hyperplasia c. Maple syrup urine disease and galactosemia d. Congenital hypothyroidism and phenylketonuria

c Galactosemia is a metabolic disorder in which the body cannot properly process galactose, a sugar found in milk and other dairy products. Infants with galactosemia must be fed a special formula that does not contain lactose or galactose. Maple syrup urine disease is a metabolic disorder in which the body cannot properly process certain amino acids. Infants with maple syrup urine disease must be fed a special formula that is low in protein and contains only the essential amino acids. Cow's milk contains both lactose and protein, so it is not suitable for infants with galactosemia or maple syrup urine disease. Therefore, parents of infants with these metabolic disorders must eliminate cow's milk from the infant's diet and use special formulas instead.

All of the following disorders are transmitted via autosomal recessive transmission except: a. Galactosemia b. G6PD Deficiency c. Phenylketonuria d. Congenital Adrenal Hyperplasia

d Congenital Adrenal Hyperplasia (Option d) is not transmitted via autosomal recessive transmission, while Galactosemia, G6PD Deficiency, and Phenylketonuria are all transmitted via autosomal recessive transmission. Congenital Adrenal Hyperplasia (CAH) is a group of genetic disorders that affect the adrenal glands, which produce hormones that regulate various bodily functions. CAH can be caused by various mutations in different genes, including the CYP21A2 gene, which is inherited in an autosomal recessive pattern. However, some forms of CAH are inherited in an autosomal dominant pattern or are sporadic (occurring without a known genetic cause).

The nurse is obtaining a health history from parents whose 4-month-old boy has congenital hypothyroidism. What would be the nurse most likely assess? a. The skin is pink and healthy looking. b. The child has above-normal growth for his age. c. The child is active and playful. d. It is difficult to keep the child awake.

d Congenital hypothyroidism (CH) is a condition in which the thyroid gland does not produce enough thyroid hormone. Thyroid hormone is important for growth and development, and inadequate levels can lead to various health problems. One of the characteristic signs of CH is lethargy or difficulty staying awake. Infants with CH may also have poor feeding and growth, constipation, dry skin, and a hoarse cry. In some cases, they may have a puffy face and a large, protruding tongue.

When instructing a mother of an infant diagnosed with congenital hypothyroidism about administering levothyroxine medication, the nurse would include the information that she would: a. Understand that the medication will not be needed after age. 5 b. Crush the medication and place it in a full bottle of formula or juice to disguise the taste. c. Administer the medication every third day. d. Give the crushed medication in a syringe or in the nipple mixed with a small amount of formula.

d Levothyroxine should be given on an empty stomach, at least 30 minutes before feeding. Mixing the crushed medication with a small amount of formula and administering it in a syringe or in the nipple can help ensure that the medication is given correctly and absorbed properly.

Which of the following health teaching is specific to cases of MSUD? a. Promptly substitute the infant's formula or breastmilk with galactose-free formula. b. Administration of hydrocortisone is a part of the medical management of this condition. c. Provide parents with a list of common drugs and foods to avoid, including ASA, sulfonamides, antimalarials, and fava beans. d. Protein-restricted diet that limits the amount of branched-chain amino acids.

d The health teaching that is specific to cases of MSUD (Maple Syrup Urine Disease) is a protein-restricted diet that limits the amount of branched-chain amino acids (Option d). MSUD is an autosomal recessive disorder that affects the breakdown of branched-chain amino acids (BCAAs), which are found in protein-rich foods such as milk, meat, and eggs. In MSUD, the body is unable to break down these amino acids properly, leading to a buildup of toxic byproducts that can cause serious health problems. The mainstay of treatment for MSUD is a protein-restricted diet that limits the amount of BCAAs in the diet. This may involve the use of specialized formulas or low-protein foods. Regular monitoring of blood levels of BCAAs and other markers is also important to ensure that treatment is effective.