NR 507
Week 2 – Part 1, 2 & 3
Case Study Discussions and Quiz
, 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
, 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).
Week 2 – Part 1, 2 & 3
Case Study Discussions and Quiz
, 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
, 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).
