Biochemistry cases

Biochemistry cases

Case 1

A 15-year-old African-American female presents to the emergency room with
complaints of bilateral thigh and hip pain. The pain has been present for 1 day
and is steadily increasing in severity. Acetaminophen and ibuprofen have not
relieved her symptoms. She denies any recent trauma or excessive exercise.
She does report feeling fatigued and has been having burning with urination
along with urinating frequently. She reports having similar pain episodes in the
past, sometimes requiring hospitalization. On examination, she is afebrile
(without fever) and in no acute distress. No one in her family has similar
episodes. Her conjunctiva and mucosal membranes are slightly pale in coloration.
She has nonspecific bilateral anterior thigh pain with no abnormalities
appreciated. The remainder of her examination is completely normal. Her
white blood cell count is elevated at 17,000/mm3, and her hemoglobin (Hb)
level is decreased at 7.1 g/dL. The urinalysis demonstrated an abnormal number
of numerous bacteria.
What is the most likely diagnosis?
What is the molecular genetics behind this disorder?
What is the pathophysiologic mechanism of her symptoms?