Question

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.

A. 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.

B. Why is it that the later in age this disease manifest itself, the less severe the disease is?

C. What tests would you run to clarify your differential and potentially come to a definitive diagnosis?

D. If the same child was African in ancestry would this change your initial differential? Why or why not?

Answer 1

a)  Cystic Fibrosis– It is an autosomal disorder. it refers to multisystem disorder caused by a mutation of the CFTR gene. Delay in the reguler flow of chloride ions results in irregular secretions causing damage to tissues in the pulmonary, gastrointestinal,endocrine/metabolic, and reproductive systems.

b) Manifestation of cystic fibrosis having a greater life expectancy for the patient. As the result of this the patients will suffer from thr diease but in a milder form.

c) The sweat test (increasing sodium )is the test which indicaes the level of chloride above 60 mmol/L in children and above 80 mmol/L in adults . Another tests includes liver function tests, stool fat tests, arterialblood gases.