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Clinical Case Study Adrienne Elise Inger Cal Poly Pomona Dietetic Intern 2012-2013

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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 Presentation

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Page 1: Clinical Case Study

Clinical Case Study

Adrienne Elise IngerCal Poly Pomona Dietetic Intern 2012-2013

Page 2: Clinical Case Study

Overview

Patient Background History of Present Illness Diagnoses Medications Additional Therapies ADIME Economic Benefits of MNT Literature Reviews My Role & Feedback

Page 3: Clinical Case Study

Patient Background

Page 4: Clinical Case Study

Patient Background

This information has been removed to protect patient confidentiality

Page 5: Clinical Case Study

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

Page 6: Clinical Case Study

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

Page 7: Clinical Case Study

History of Present Illness

Page 8: Clinical Case Study

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)

Page 9: Clinical Case Study

Diagnoses

Phenylketonuria (diagnosed at birth)

Maternal Phenylketonuria

Adolescent Pregnancy (high nutritional risk)

Page 10: Clinical Case Study

Phenylketonuria

Etiology: Autosomal recessive inherited disorder of amino acid metabolism occurring in 1 in 10,000 births

Page 11: Clinical Case Study

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

Page 12: Clinical Case Study

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

Page 13: Clinical Case Study

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)

Page 14: Clinical Case Study

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

Page 15: Clinical Case Study

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)

Page 16: Clinical Case Study

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

Page 17: Clinical Case Study

Supplements

Page 18: Clinical Case Study

Supplements

Page 19: Clinical Case Study

Additional Therapy: Phenex-2 Formula

Page 20: Clinical Case Study

ADIME

Page 21: Clinical Case Study

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)

Page 22: Clinical Case Study

Weight Changes

Page 23: Clinical Case Study

Biochemical

Page 24: Clinical Case Study

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

Page 25: Clinical Case Study

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

Page 26: Clinical Case Study

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

Page 27: Clinical Case Study

Estimated Needs

Based on References and Clinical Judgement:

Kilocalories: 2350 kcals (40 kcal/kg)

Protein: ≥75 gm/dayPhe: < 300 mg/day

Page 28: Clinical Case Study

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)

Page 29: Clinical Case Study

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

Page 30: Clinical Case Study

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.

Page 31: Clinical Case Study

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

Page 32: Clinical Case Study

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

Page 33: Clinical Case Study

Intervention

Page 34: Clinical Case Study

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

Page 35: Clinical Case Study

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)

Page 36: Clinical Case Study

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.

Page 37: Clinical Case Study

My Role & Feedback

Page 38: Clinical Case Study

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

Page 39: Clinical Case Study

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

Page 40: Clinical Case Study

Questions?

Page 41: Clinical Case Study

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.