clinical case study
DESCRIPTION
Adrienne Elise Inger Cal Poly Pomona Dietetic Intern 2012-2013. Clinical Case Study. Overview. Patient Background History of Present Illness Diagnoses Medications Additional Therapies ADIME Economic Benefits of MNT Literature Reviews My Role & Feedback. Patient Background. - PowerPoint PPT PresentationTRANSCRIPT
Clinical Case Study
Adrienne Elise IngerCal Poly Pomona Dietetic Intern 2012-2013
Overview
Patient Background History of Present Illness Diagnoses Medications Additional Therapies ADIME Economic Benefits of MNT Literature Reviews My Role & Feedback
Patient Background
Patient Background
This information has been removed to protect patient confidentiality
Team Members RD MD RN (blood sample collection, heights, weights) OB/GYN
Nutrition Care Manual recommends that a Social Worker + Psychologist be part of the team to help individuals with:
Social barriers to adherence Problem solving around insurance and formula issues Psychological and neuropsychological status
Patient’s General Health
Sleep Patterns: Patient reports sleeping well (9-10 hours/night)
Elimination: Regular. Typical BM 1x/day
Exercise, recreation and activity level: Patient is moderately active; reports walking 2-4 miles per
day and playing with brother at the park 1-2x per week
Dental Health: Good dentition
Tobacco use: Denies
Alcohol and other drug use: Denies
History of Present Illness
History of Present Illness Pt with elevated phe levels since age 3
(2010) Stopped drinking phe-free, tyrosine enriched formula
(11/2011) Trial of Kuvan failed
(9/2/2012) Patient’s last menstrual period
(10/26/12) Chief complaint: Missed periodPregnancy confirmed in Genetics clinic and pt seen by
nutrition services
Patient informed that she is required to come to Genetics Clinic weekly during pregnancy for close monitoring of Maternal PKU
Now: 18 weeks pregnant (2nd trimester)
Diagnoses
Phenylketonuria (diagnosed at birth)
Maternal Phenylketonuria
Adolescent Pregnancy (high nutritional risk)
Phenylketonuria
Etiology: Autosomal recessive inherited disorder of amino acid metabolism occurring in 1 in 10,000 births
Phenylketonuria
Pathophysiology: Phenylalanine is not metabolized to tyrosine because of a deficiency or inactivity of liver enzyme phenylalanine hydroxylase
Even if the PAH enzyme functions properly, a patient may still present with PKU if the enzyme dihydropterin reductase (which hastens the production of tetrahyrobiopterin or BH4) is deficient
Nutrition Therapy
Consumption of a semisynthetic, phenylalanine-free, tyrosine-supplemented formula
Small amounts of natural foods to provide the required amount of essential amino acid phenylalanine
Exclude high-protein foods and Aspartame
Medical Treatment
Tetrahydrobiopterin (BH4), a cofactor needed for the proper activity of PAH can be supplemented in patients that have BH4-responsive PKU (i.e. Kuvan)
Large neutral amino acid supplementation (i.e. threonine) may help to decrease serum phe levels by competing with phe absorption at the gut-blood barrier. More evidence is available on their work at the blood-brain barrier
Untreated PKU is characterized by severe to profound
intellectual disability, seizures, autistic-like behaviors, microcephaly, rashes, hypopigmentation, and a musty body odor (phenylacetic acid)
Maternal Phenylketonuria
Pathophysiology: Amplified transport of amino acids across the placenta occurs during pregnancy, thus the fetus is exposed to approximately twice the phe level contained in normal maternal blood
May result in growth retardation, significant psychomotor handicaps, and birth defects in the offspring of unmonitored and untreated pregnancies
Normal pregnancy and neonatal outcome where blood phe concentrations between 120 and 360 mol/L are reached before conception or by 8 weeks of gestation at the latest
Adolescent Pregnancy
Approximately 1 million U.S. adolescents become pregnant every year, accounting for 25% of U.S. pregnancies
Adolescents most likely to get pregnant are those with inadequate nutritional status and unfavorable socio-economic background
Pathophysiology: Competition for nutrients between the growing pregnant adolescent and her fetus
Common complications: Low birth weight, infant anemia, delivery complications, and prematurity
Medical/Nutritional Treatment: Ensure adequate macronutrient and micronutrient intake(Especially Ca, Fe, vitamin A, vitamin C)
Relation to NutritionCondition Potential Relationship Actual Relationship
Phenylketonuria High dietary levels of Phe can lead to cognitive delays and diminished IQ
Unknown
Phenylketonuria PKU patients may have low folic acid, vitamin B6, and vitamin b12, which could lead to serious complications for the baby including miscarriage, structural heart disease, and neural tube defects
Patient ingesting adequate levels of these nutrients
Maternal Phenylketonuria High dietary levels of Phe can result in growth retardation, psychomotor handicaps, and birth defects in offspring
Unknown
Adolescent Pregnancy Increased needs for growth of mother and fetus; Common vitamin/mineral deficiencies may lead to miscarriage, birth defects, low birth weight (LBW), etc.; Pregnant adolescents at a higher risk for excessive weight gain
Unknown
Supplements
Supplements
Additional Therapy: Phenex-2 Formula
ADIME
Anthropometrics
Height: 161 cm; 5’3” Current wt: 61.3 kg (Mechanical Beam Physician Scale) Admit weight: 63 kg; outlier Usual weight: 58 kg (pre-pregnancy) Pre-pregnancy IBW: 52.3 kg, 110% of
IBW Pre-pregnancy BMI: 22.6
(within normal limits)
Weight Changes
Biochemical
Clinical
Possible Physical Conditions: Hypopigmentation, musty odor and eczema
Patient has no present physical conditions
Neuropsychological Conditions: Poor memory, decreased attention span, and impaired reasoning
Increased focus and memory noted in past month
Dietary Recall (10/12-11/15)Before Intervention
Breakfast: Pasta (1 cup); 416 mg PheStrawberries (1 cup); 32 mg Phe Lunch: Chili Cheese Fries – Carl’s Jr.; 307 mg PheOr Chilaquiles; 160 mg Phe Dinner: White Rice (1 cup); 188 mg PheBroccoli (1 cup); 45 mg Phe Snacks: Oreos (2 cookies); 52 mg PhePotato Chips – Lay’s Original; 93 mg PheMcDonald’s Fries (medium); 152 mg PheTotals: 1,819 calories, 47 gm protein, 75 gm fat, 1,445 mg phe Average intake of Phe calculated from diet recalls = 800-1,217 mg/day Desired phe intake = 200-600 mg/day
Estimated Needs
Estimated needs from the ROSS Metabolics Nutrition Support Protocols, 4th Edition: Second Trimester (<19 years old):Kilocalories: 2,000-3,500 kcals/dayProtein: ≥75 gm/dayPhe: 200-900 mg/dayTyrosine: 5.75-7.5 gm/day
Estimated needs from the RDA for Normal Pregnancy25-30 kcal/kg (BMI wnl)Patient weighs 58 kg= 1450-1740 kcal/dayIncreased Needs for 2nd Trimester: 340-360 kcal/day Kilocalories: 1,810-2,100 kcalsProtein: 1.1 gm/kg = 64 gm
Estimated Needs
Based on References and Clinical Judgement:
Kilocalories: 2350 kcals (40 kcal/kg)
Protein: ≥75 gm/dayPhe: < 300 mg/day
Patient’s Current Intake After Intervention
Formula: 180 gm Phenex-2 formula 738 kcals, 54 gm protein, 0 mg Phe, 24.3 gm fat Breakfast:CBF Bigger Bagel (Plain); 32 mg Phe1 TBSP Butter; 6 mg Phe1 TBSP Honey; 2 mg Phe1 c. Fresh Apple; 6-8 mg Phe Snack:2 CBF Focaccia Sticks; 26 mg Phe1 cup Apple Juice; free food Lunch:1 c. Aproten Chicchi (Rice); 10 mg Phe¼ c. Enchilada Sauce; 6 mg Phe1 TBSP Butter; 6 mg Phe½ c. Applesauce; 6 mg Phe
Dinner: ½ c. Broccoli; 45 mg Phe1 c. Potatoes; 106 mg Phe1 TBSP Olive Oil; free food¼ c. Dried Cranberries; 6-8 mg PheTotals: 2,363 calories, 115 gm protein, 94 gm fat, 260 mg pheProblem Areas: Folate in excess (minimal toxicity risk)
Dietary
Assessment of nutritional status Sub-optimal Phe levels that remain above 2-6 mg/dL Weight gains that exceed recommended
levels One incidence of unintended weight loss Patient is achieving optimal levels of
macronutrient and micronutrient intakes, and thus is not at risk for deficiencies
Intake of folic acid may exceed tolerable Upper Limit (UL) – minimal toxicity risk
Diagnosis (PES)
Primary Problem: High serum phenylalanine:
Inappropriate intake of amino acids related to low comprehension of nutrition care plan as evidenced by serum Phe levels of 18.7 mg/dL, where >8 mg/dL indicates loss of dietary control of PKU.
Less than optimal intake of types of protein or amino acids (NI-5.7.3) related to lack of knowledge of the phenylalinine content of foods as evidenced by inability to name food sources of phenylalinine.
Secondary Problem: Increased energy needs:
Increased energy needs (NI-5.1) related to accelerated growth of fetus as evidenced by estimated intake of foods/supplements not meeting estimated requirements.
Secondary Problem: Excessive weight gain:
Unintentional weight gain (NC-3.4) related to pregnancy as evidenced by estimated intake inconsistent with estimated energy needs.
Secondary Problem: Unintentional weight loss:
Unintentional weight loss (NC-3.2) related to physiological causes increasing nutrient needs (pregnancy) as evidenced by weight loss of 1 lb (0.75%) over the course of one week.
Intervention
Due to the potential teratogenic effects of patient’s elevated serum phe levels, primary intervention includes nutrition education of phenylalanine-containing foods and the potential consequences of poorly managed PKU on offspring
Dietary prescription of phe-free and low-phe containing foods
Menu planning to ensure adequate energy intake/avoid excessive intakes
Intervention
Nutrition Goals Phe levels of 2-6 mg/dL Improved formula acceptance Improved diet adherence Weight gain of 2-4 lb in first
trimester Weight gain of approximately 1
lb/week in second trimester Patient to calculate daily phe intake
Intervention
Monitoring and Evaluation Anthropometrics: Overall weight gain exceeds the recommended 4-6 lbs by approximately
1.5 lbs (30%) Fluctuations in weight gains/losses indicate high levels of variation in
consumption patterns
Biochemical: Phe levels have dropped 11 mg/dL (from 18.7 mg/dL to 7.7 mg/dL)
Clinical: N/A. Possible cognitive improvement noted
Dietary: Compliance improved
Patient Satisfaction: Patient feels gratified by improved serum Phe levels
Quality of Life: Good related to patient finds low-phe foods to be palatable, and is in a relatively supportive environment. QOL to be re-assessed after birth of child
Economic Benefits of MNT
Cost of Phenex-2 Formula: $245.13 for six 14.1 oz cans=2299.5 oz/yr divided by 14.1 oz/can = 164 cans/year
=27 item purchases (equaling 164 cans total) 27 purchases x $245.13/purchase = $6,618.51 a year
Cost of 6 months worth of Low-Protein Foods: $1,320.54$1,320.54 x 2 = $2,641.08 a year
Total Cost: 9,259.59 paid by Medical/CCS
Reported consumption cost of caring for a child with a disability varied from $108 to $8,742 a year paid by patient
(caregiver time, missed work days)
Literature Reviews
Spronsen, F. Large neutral amino acids in the treatment of PKU: from theory to practice. J Inherit Metab Dis. 2010 December; 33(6): 671–676.
Discussed the use of Large Neutral Amino Acid (LNAA) supplementation to compete with phenylalanine absorption at the blood-brain barrier and gut-blood barrier. Methods discussed here were used to understand patient’s medication history.
Saal, H. Maternal Phenylketonuria. J. of the American Academy of Pediatrics. 2008; 122:445-449.
Outlined the teratogenic effects of poorly managed maternal phenylketonuria; discussed newborn screening of phenylketonuria in the United States; provided reference serum phenylalanine levels for normal neonatal outcome. Information obtained from this article was used in patient intervention.
Koch, R. Psychosocial issues and outcomes in maternal pku. J. of Molecular Genetics and Metabolism, 2010; 99:568-574.
Discussed the factors affecting dietary adherence including poor access to medical care, practical difficulties implementing the diet, financial constraints, demographics, and psychosocial issues. Used to gain perspective on patient’s situation, and to counsel patient in a culturally sensitive manner.
My Role & Feedback
My Role Obtained consent from physician and team to assume
responsibility for the nutritional care of the patient
Overviewed patient condition and intervention strategies with team
Researched and reported target phe levels, phe-containing foods, and teratogenic effects of poorly managed PKU to hospital RD’s
Analyzed patient dietary recalls and calculated average phe intakes
Created low-phenylalanine meal plans
Advocated for lab draws to MD
Charted patient note into HUCLA database
Changes I Would Have Made
With the opportunity to re-do this assignment, I would:
Find my patient sooner Choose an inpatient for the sake of
data acquisition
Questions?
Sources
Acosta, P. B. (2001). Disorders of amino acid metabolism. In The Ross Metabolic Formula System Nutrition Support Protocols (4th ed.). Columbus, Ohio: Abbott Laboratories.
Anderson, D., & Dumont, S. (2007). The personal costs of caring for a child with a disability: A review of the literature. Public Health Rep, 122, 3-16. Retrieved from http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1802121/
(2007). Autosomal recessive inheritance. (2007). [Web Graphic]. Retrieved from http://www.actionbioscience.org/genomic/siegal.html
(201). Biochemistry of phenylketonuria. (201). [Print Photo]. Retrieved from http://www.virtualmedstudent.com/links/metabolism/phenylketonuria.html
Escott-Stump, S. (2012). Nutrition and diagnosis-related care. (7th ed., pp. 204-207). Baltimore, MD: Lippincott Williams & Wilkins.
Mahan, K., Escott-Stump, S., & Raymond, J. L. (2012). Nutrition in pregnancy and lactation. (13th ed., pp. 353-367). Elsevier Inc.
Mahan, K., Escott-Stump, S., & Raymond, J. L. (2012). Medical nutrition therapy for inherited metabolic disorders. (13th ed., pp. 353-367). Elsevier Inc.