Genetics

Discuss what is happening on a cellular level with the disease process. Be careful to realize that patients have co-morbidities and you may need to discuss the other diseases impact on the pathophysiology and care of the patient.  Three (3) resources after 2008 are required along with APA format. 

Jane and Jackie, 30 year old twin sisters, adopted when they were two years old, lived mirrored lives to this point. They do everything together, from having a double wedding, living next door to each other, and making any appointments, medical or social together.

Today they made an appointment with their OB/GYN. Information was as follows:

Jane Information: Jackie’s Information:

BP 115/70 BP 165/96

HR 70 HR 96

Resp. 20 Resp, 22

Temp 98.6 Temp 99.2

N/A Normal U/A + Hematuria

+ Proteinuria

Weight No gain Weight +15 pounds

C/O Intermittent Headache C/O Has lower back and stomach

at times relieved with pain at times and is relieved also

Tylenol by Tylenol.

Other: This individual is noted to have

some loss of muscle mass in her

arms and legs and less subcutaneous

tissue overall.

1. At this point, what do your think is the problem with Jackie? Why is this problem co common in women? What test would you request to confirm your diagnosis?

The physician uses the ultrasound to assess Jackie’s back and abdomen. He finds that her kidneys are about 4 times larger than normal and appear to have numerous fluid filled cysts noted. At this point he asks BOTH sisters to see a nephrologist and to be scheduled for MRI’s of the kidneys. The MRI showed that Jackie’s kidneys were indeed larger and filled with cysts. Jane’s kidneys were somewhat larger than normal, and no cysts were present at this time.

2. What problem do you anticipate that Jackie has now? How was it acquired?

3. Why did Jackie gain so much weight over the last year?

4. Why does Jackie have high blood pressure and the UTI?

5. Why were both sisters requested to have this test.

The sisters went to see the nephrologists who requested that they have MRI’s of the brain and an echocardiogram. Jane’s MRI and echocardiogram were normal. Jackie’s brain MRI and echocardiogram were not. Jackie had a cerebral angiogram that followed which confirmed complications of her disease process, an Intracranial aneurysm and Mitral regurgitation. Jackie undergoes a procedure called Coil Embolization Therapy to resolve the aneurysm.

6. What is an Intracranial aneurysm? How does Coil Embolization Therapy resolve the problem.? Please be specific of the procedure.

7. What is Mitral Valve Prolapse and how will it affect Jackie’s health care needs before procedures in the future?

8. What education is needed to be shared with these sisters related to their children having this condition in the future?

Neafsey. P. (2010).Sisters for life:
Case Mysteries in Pathophysiology. Englewood:

Morton Publishing Company

gmt/2015