20260105103911_695b94cf8779b_nr507week2tdandquiz
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NR 507
Week 2 – Part 1, 2 & 3
Case Study Discussions and Quiz
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NR 507 Week 2 TD and Quiz
PART:
A five-month-old Caucasian female is brought into the clinic as the parent
complain that she has been having ongoing foul-smelling , greasy diarrhea.
She seems to be small for her age and a bit sickly but, her parent’s state that
she has a huge appetite. Upon examination you find that the patient is
wheezing and you observe her coughing.
Write a differential diagnosis of at least three (3) disorders and explain
why each might be a possibility and any potential weaknesses of each
differential.
Why is it that the later in age this disease manifest itself, the less severe
the disease is?
What tests would you run to clarify your differential and potentially
come to a definitive diagnosis?
If the same child was African in ancestry would this change your initial
differential? Why or why not?
1. Cystic Fibrosis s/s bad smelling and greasy stools r/t poor
digestion of fats, coughing and wheezing, growth delays, frequent
respiratory infections, salty-tasting skin. Why not Does not get
less severe with age, AAs may experience less severe s/s but
outcome and mortality are same as Caucasians autosomal
recessive disorder and less common in AAs due to genetic makeup
– s/s usually occur in infancy or childhood, the earlier in life the
worse the dz, the later in life symptoms manifest the less severe
the dz is
Lipase levels for fat digestion, MRI, endo, genetic testing
(CFTCR) and sweat testing
2. Malabsorption or Steatorrhea – r/t Giardia infections, enterokinse
deficiency, hepatic and pancreatic dysfunction, and protein
sensitivity syndroms Why not No respiratory abnorms
mentions, No mention of decreasing in severity or being any worse
in AAs
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3. Celiac’s Dz – Diarrhea, FTT, foul-smelling or gray stools that are
fatty or oily, stunted growth, pallor, anemia, Vit B12, D, K
deficiency, voracious appetite, weight loss Why not no
respiratory s/s
1. Cystic Fibrosis (CF). CF is an autosomal recessive disorder that affects the lungs,
pancreas, small and large intestines, liver, gallbladder , bile ducts, sweat and
saliva glands, and the vas deferens. The most common symptoms of CF include
persistent respiratory infections (i.e. wheezing and coughing), pancreatic
insufficiency (i.e. greasy, foul-smelling stools), and elevated sweat chloride levels
(Katkin, 2017). The mean survival rate is 40 years of age (Van Biervliet et al.,
2016).
Epidemiology. CF is the most common and fatal autosomal recessive disease
among Caucasians. CF affects 1 in 3,000 Caucasians, 1 in 9,200 Hispanics, 1 in
10,900 Native Americans, 1 in 15,000 African Americans, and 1 in 30,000 Asian
Americans (Katkin, 2017). Approximately 75 percent of CF cases are diagnosed
by 1 year of age with a median diagnosis age of 6 months (McCance, Huether,
Brashers, & Rote, 2013). About 10 percent of CF cases are diagnosed after the
patient is 10 years of age however, these cases tend to exhibit milder symptoms
(McCance et al., 2013).
Pathophysiology. CF is associated with deficient epithelial chloride ion transport
(McCance et al., 2013). The CF gene can be found on chromosome 7 and has 6
classifications that differ in severity (McCance et al., 2013). “The cystic fibrosis
transmembrane conductance regulator (CFTCR or CFTR) gene mutation results
in the abnormal expression of cystic fibrosis transmembrane conductance
regulator protein, which is a cyclic adenosine monophosphate (cAMP)-activated
chloride channel present on the surface of many types of epithelial calls”
including those lining the airways, bile ducts, the pancreas, sweat ducts, and the
vas deferens” (McCance et al., 2013, p. 1310).
The patient is 5 months old (the median age at diagnosis is 6 months), is
experiencing greasy, foul-smelling diarrhea, small for her age, coughing, and
wheezing, which are classic symptoms of CF. There are no weaknesses in this
differential.
If the disease presents itself later in life, the patients typically have milder
symptoms as opposed to diagnosing the patient within the first year of life. The
severity of the disease depends on which class it falls in; classes 4-6 experience
milder symptoms than those that fall within classes 1-3 (McCance et al., 2013).
20260105103911_695b94cf8779b_nr507week2tdandquiz
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CF must be diagnosed early in order to improve the patient’s quality and
longevity of life. After recognizing the symptoms one must confirm their
differential before giving a definite diagnosis. Screening newborns for CF is a
universal protocol in the United States. There are two assays are used in
screening, immunoreactive trypsinogen (IRT) and DNA (Sands, Zybert,
Mierzejewska, & Ottarzewski, 2015). Most infants with CF have elevated IRT
levels and DNA assays look for CFTCR mutations (Sands, Zybert, Mierzejewska,
& Ottarzewski, 2015). In order to diagnose a patient with CF, the patient must
meet the following criteria: Exhibit symptoms that correlate with CF in one or
more organ systems and show evidence of CFTR dysfunction by elevated sweat
chloride testing (2 test both greater than or equal to 60 mmol/L), show 2 disease
causing mutations in the CFTR, and/or atypical nasal potential difference by
serum confirmation (Katkin, 2017).
If this child was African American I would not change the initial
differential. Even though CF is more common in Caucasians, 1 in every 15,000
African Americans has CF. If the patient has clinical signs of CF, one must be
diligent in testing so that confirmation can be obtained early and treatment can
begin to improve quality of life.
2. Malabsorption or Steatorrhea. Malabsorption occurs when one is unable to
breakdown and absorb carbohydrates, proteins, vitamins, minerals, and especially
fats (Aaron, 2016). CF is the most common reason malabsorption is seen in
children. It is also seen in diseases such as Celiac Disease, lactose intolerance, and
inadequate functions of the pancreas (Aaron, 2016). A patient with a
malabsorption syndrome may exhibit certain symptoms, such as diarrhea, bulky
and foul-smelling stools, weight loss, abdominal distention, stunted growth,
muscle weakness and fatigue. Malabsorption is also related to giardia infections,
enterokinse deficiency, hepatic and pancreatic dysfunction, lactase deficiency, bile
salt deficiency, and protein sensitivity syndromes (McCance et al., 2013). This
diagnosis was listed as a possible diagnosis because some of the symptoms match
that of the 5-month-old patient however, the patient is not experiencing a number
of the common symptoms for malabsorption and there is no respiratory
involvement in malabsorption.
3. Celiac Disease (CD). CD is an autoimmune disease that is brought on by gluten.
CD is distinguished by inflammation and damage to the small intestines after
consuming gluten and other dietary proteins (Meyer & Rosenblum, 2016). CD is
prevalent in the United States and abroad, affecting 1-2 percent of children and
adults with the greatest prevalence among children (Meyer & Rosenblum, 2016).
CD is more common in Caucasians and in genetically predisposed people (Hill,
2017). The primary finding of the celiac lesion (discovered in 1954) include
mucosal inflammation, crypt hyperplasia, and villous atrophy (Hill, 2017).
Clinical manifestations are similar to those of malabsorption and failure to thrive
and include chronic diarrhea that is bulky and foul-smelling, abdominal pain and
distension, anorexia, stunted growth, pallor, and anemia. This diagnosis was listed
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NR 507
Week 2 – Part 1, 2 & 3
Case Study Discussions and Quiz
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NR 507 Week 2 TD and Quiz
PART:
A five-month-old Caucasian female is brought into the clinic as the parent
complain that she has been having ongoing foul-smelling , greasy diarrhea.
She seems to be small for her age and a bit sickly but, her parent’s state that
she has a huge appetite. Upon examination you find that the patient is
wheezing and you observe her coughing.
Write a differential diagnosis of at least three (3) disorders and explain
why each might be a possibility and any potential weaknesses of each
differential.
Why is it that the later in age this disease manifest itself, the less severe
the disease is?
What tests would you run to clarify your differential and potentially
come to a definitive diagnosis?
If the same child was African in ancestry would this change your initial
differential? Why or why not?
1. Cystic Fibrosis s/s bad smelling and greasy stools r/t poor
digestion of fats, coughing and wheezing, growth delays, frequent
respiratory infections, salty-tasting skin. Why not Does not get
less severe with age, AAs may experience less severe s/s but
outcome and mortality are same as Caucasians autosomal
recessive disorder and less common in AAs due to genetic makeup
– s/s usually occur in infancy or childhood, the earlier in life the
worse the dz, the later in life symptoms manifest the less severe
the dz is
Lipase levels for fat digestion, MRI, endo, genetic testing
(CFTCR) and sweat testing
2. Malabsorption or Steatorrhea – r/t Giardia infections, enterokinse
deficiency, hepatic and pancreatic dysfunction, and protein
sensitivity syndroms Why not No respiratory abnorms
mentions, No mention of decreasing in severity or being any worse
in AAs
20260105103911_695b94cf8779b_nr507week2tdandquiz
20260105103911_695b94cf8779b_nr507week2tdandquiz
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3. Celiac’s Dz – Diarrhea, FTT, foul-smelling or gray stools that are
fatty or oily, stunted growth, pallor, anemia, Vit B12, D, K
deficiency, voracious appetite, weight loss Why not no
respiratory s/s
1. Cystic Fibrosis (CF). CF is an autosomal recessive disorder that affects the lungs,
pancreas, small and large intestines, liver, gallbladder , bile ducts, sweat and
saliva glands, and the vas deferens. The most common symptoms of CF include
persistent respiratory infections (i.e. wheezing and coughing), pancreatic
insufficiency (i.e. greasy, foul-smelling stools), and elevated sweat chloride levels
(Katkin, 2017). The mean survival rate is 40 years of age (Van Biervliet et al.,
2016).
Epidemiology. CF is the most common and fatal autosomal recessive disease
among Caucasians. CF affects 1 in 3,000 Caucasians, 1 in 9,200 Hispanics, 1 in
10,900 Native Americans, 1 in 15,000 African Americans, and 1 in 30,000 Asian
Americans (Katkin, 2017). Approximately 75 percent of CF cases are diagnosed
by 1 year of age with a median diagnosis age of 6 months (McCance, Huether,
Brashers, & Rote, 2013). About 10 percent of CF cases are diagnosed after the
patient is 10 years of age however, these cases tend to exhibit milder symptoms
(McCance et al., 2013).
Pathophysiology. CF is associated with deficient epithelial chloride ion transport
(McCance et al., 2013). The CF gene can be found on chromosome 7 and has 6
classifications that differ in severity (McCance et al., 2013). “The cystic fibrosis
transmembrane conductance regulator (CFTCR or CFTR) gene mutation results
in the abnormal expression of cystic fibrosis transmembrane conductance
regulator protein, which is a cyclic adenosine monophosphate (cAMP)-activated
chloride channel present on the surface of many types of epithelial calls”
including those lining the airways, bile ducts, the pancreas, sweat ducts, and the
vas deferens” (McCance et al., 2013, p. 1310).
The patient is 5 months old (the median age at diagnosis is 6 months), is
experiencing greasy, foul-smelling diarrhea, small for her age, coughing, and
wheezing, which are classic symptoms of CF. There are no weaknesses in this
differential.
If the disease presents itself later in life, the patients typically have milder
symptoms as opposed to diagnosing the patient within the first year of life. The
severity of the disease depends on which class it falls in; classes 4-6 experience
milder symptoms than those that fall within classes 1-3 (McCance et al., 2013).
20260105103911_695b94cf8779b_nr507week2tdandquiz
20260105103911_695b94cf8779b_nr507week2tdandquiz
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CF must be diagnosed early in order to improve the patient’s quality and
longevity of life. After recognizing the symptoms one must confirm their
differential before giving a definite diagnosis. Screening newborns for CF is a
universal protocol in the United States. There are two assays are used in
screening, immunoreactive trypsinogen (IRT) and DNA (Sands, Zybert,
Mierzejewska, & Ottarzewski, 2015). Most infants with CF have elevated IRT
levels and DNA assays look for CFTCR mutations (Sands, Zybert, Mierzejewska,
& Ottarzewski, 2015). In order to diagnose a patient with CF, the patient must
meet the following criteria: Exhibit symptoms that correlate with CF in one or
more organ systems and show evidence of CFTR dysfunction by elevated sweat
chloride testing (2 test both greater than or equal to 60 mmol/L), show 2 disease
causing mutations in the CFTR, and/or atypical nasal potential difference by
serum confirmation (Katkin, 2017).
If this child was African American I would not change the initial
differential. Even though CF is more common in Caucasians, 1 in every 15,000
African Americans has CF. If the patient has clinical signs of CF, one must be
diligent in testing so that confirmation can be obtained early and treatment can
begin to improve quality of life.
2. Malabsorption or Steatorrhea. Malabsorption occurs when one is unable to
breakdown and absorb carbohydrates, proteins, vitamins, minerals, and especially
fats (Aaron, 2016). CF is the most common reason malabsorption is seen in
children. It is also seen in diseases such as Celiac Disease, lactose intolerance, and
inadequate functions of the pancreas (Aaron, 2016). A patient with a
malabsorption syndrome may exhibit certain symptoms, such as diarrhea, bulky
and foul-smelling stools, weight loss, abdominal distention, stunted growth,
muscle weakness and fatigue. Malabsorption is also related to giardia infections,
enterokinse deficiency, hepatic and pancreatic dysfunction, lactase deficiency, bile
salt deficiency, and protein sensitivity syndromes (McCance et al., 2013). This
diagnosis was listed as a possible diagnosis because some of the symptoms match
that of the 5-month-old patient however, the patient is not experiencing a number
of the common symptoms for malabsorption and there is no respiratory
involvement in malabsorption.
3. Celiac Disease (CD). CD is an autoimmune disease that is brought on by gluten.
CD is distinguished by inflammation and damage to the small intestines after
consuming gluten and other dietary proteins (Meyer & Rosenblum, 2016). CD is
prevalent in the United States and abroad, affecting 1-2 percent of children and
adults with the greatest prevalence among children (Meyer & Rosenblum, 2016).
CD is more common in Caucasians and in genetically predisposed people (Hill,
2017). The primary finding of the celiac lesion (discovered in 1954) include
mucosal inflammation, crypt hyperplasia, and villous atrophy (Hill, 2017).
Clinical manifestations are similar to those of malabsorption and failure to thrive
and include chronic diarrhea that is bulky and foul-smelling, abdominal pain and
distension, anorexia, stunted growth, pallor, and anemia. This diagnosis was listed
20260105103911_695b94cf8779b_nr507week2tdandquiz
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