A 12-month-old boy is taken to the family doctor. He is falling behind on major motor development milestones and is exhibiting tachypnoea whilst feeding. The child's mother informs the clinician that she had a maternal great aunt who had two sons who died in late infancy/early childhood from heart and muscle weaknesses. The boy was found to have dilated cardiomyopathy after an echocardiogram was performed and the physician diagnosed the boy with mild general muscle weakness. The physician ordered a FBC, E/LFT, CK and urine M/C/S. The returned results indicated that the child had a neutropenia and acidic urine (pH 3.9). Additionally, CK concentrations were within normal limits. a) Based on the clinical information provided and the family history, what is your diagnosis and what is this disease an example of? b) What is the inheritance pattern of this disorder? c) What two tests should be requested to confirm your diagnosis? (Hint: 1 will be a single-gene molecular diagnostic assay and the other will be a biochemical assay for a d) specific analyte) Please state the function of this gene and how mutations in this gene lead to the development of the disease that you have diagnosed this young boy with (i.e. what is the cellular basis of the disease)?
A 12-month-old boy is taken to the family doctor. He is falling behind on major motor development milestones and is exhibiting tachypnoea whilst feeding. The child's mother informs the clinician that she had a maternal great aunt who had two sons who died in late infancy/early childhood from heart and muscle weaknesses. The boy was found to have dilated cardiomyopathy after an echocardiogram was performed and the physician diagnosed the boy with mild general muscle weakness. The physician ordered a FBC, E/LFT, CK and urine M/C/S. The returned results indicated that the child had a neutropenia and acidic urine (pH 3.9). Additionally, CK concentrations were within normal limits. a) Based on the clinical information provided and the family history, what is your diagnosis and what is this disease an example of? b) What is the inheritance pattern of this disorder? c) What two tests should be requested to confirm your diagnosis? (Hint: 1 will be a single-gene molecular diagnostic assay and the other will be a biochemical assay for a d) specific analyte) Please state the function of this gene and how mutations in this gene lead to the development of the disease that you have diagnosed this young boy with (i.e. what is the cellular basis of the disease)?
Human Anatomy & Physiology (11th Edition)
11th Edition
ISBN:9780134580999
Author:Elaine N. Marieb, Katja N. Hoehn
Publisher:Elaine N. Marieb, Katja N. Hoehn
Chapter1: The Human Body: An Orientation
Section: Chapter Questions
Problem 1RQ: The correct sequence of levels forming the structural hierarchy is A. (a) organ, organ system,...
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Transcribed Image Text:A 12-month-old boy is taken to the family doctor. He is falling behind on major motor
development milestones and is exhibiting tachypnoea whilst feeding. The child's mother
informs the clinician that she had a maternal great aunt who had two sons who died in late
infancy/early childhood from heart and muscle weaknesses. The boy was found to have
dilated cardiomyopathy after an echocardiogram was performed and the physician diagnosed
the boy with mild general muscle weakness. The physician ordered a FBC, E/LFT, CK and
urine M/C/S. The returned results indicated that the child had a neutropenia and acidic urine
(pH 3.9). Additionally, CK concentrations were within normal limits.
a)
Based on the clinical information provided and the family history, what is your diagnosis
and what is this disease an example of?
b)
What is the inheritance pattern of this disorder?
c)
What two tests should be requested to confirm your diagnosis?
(Hint: 1 will be a single-gene molecular diagnostic assay and the other will be a biochemical assay for a
d)
specific analyte)
Please state the function of this gene and how mutations in this gene lead to the
development of the disease that you have diagnosed this young boy with (i.e. what is
the cellular basis of the disease)?
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