Question
Jan Villaroel
Topic: Others Posted 1 year ago
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

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?


Answers
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Koala Tutor
Sep 18, 2023
Koala Ai Support

1. Based on the information provided, it is likely that Jackie has a condition called polycystic kidney disease (PKD). This is a genetic disorder characterized by the growth of multiple cysts in the kidneys. It is more common in women because the disease is generally inherited in an autosomal dominant manner, meaning that only one copy of the mutated gene is needed for the disease to occur. However, hormonal factors may also contribute to the higher prevalence of PKD in women. To confirm the diagnosis, a genetic test may be requested to identify the specific gene mutation associated with PKD.

2. The enlarged kidneys with numerous fluid-filled cysts seen in Jackie's ultrasound indicate that she has polycystic kidney disease. PKD is typically inherited, so Jackie most likely acquired this condition from her biological parents.

3. Jackie's weight gain over the last year could be related to her polycystic kidney disease. This condition can lead to fluid retention and kidney dysfunction, which can contribute to weight gain.

4. Jackie's high blood pressure may be a result of her polycystic kidney disease. As the cysts grow and expand in the kidneys, they can disrupt the normal kidney function, including the regulation of blood pressure. The presence of a urinary tract infection (UTI) is likely due to the impaired function of the kidneys, which can make them more susceptible to infections.

5. Both sisters were requested to have the MRI of the kidneys and further tests because polycystic kidney disease is a genetic condition and there is a possibility that Jane may also have the disease. Even though Jane's kidneys appeared to be somewhat larger than normal and without cysts at this time, it is important to monitor her kidney health and assess for any signs or symptoms of the disease.

6. An intracranial aneurysm is a bulging or ballooning of a blood vessel in the brain. Coil Embolization Therapy is a minimally invasive treatment option for intracranial aneurysms. During this procedure, a catheter is threaded through the blood vessels to the site of the aneurysm. Tiny platinum coils are then placed within the aneurysm to induce clotting, essentially blocking off the blood flow into the aneurysm and preventing the risk of rupture.

7. Mitral Valve Prolapse (MVP) is a condition where the valve between the left atrium and left ventricle of the heart doesn't close properly during contraction, leading to blood leakage or regurgitation. Jackie's MVP may require monitoring and management before future medical procedures, as it could increase the risk of complications and need for antibiotic prophylaxis to prevent infection. It is important for the healthcare team to be aware of this condition to ensure appropriate care is provided.

8. The sisters should be educated about the genetic nature of polycystic kidney disease and the possibility of passing it on to their children. They should be encouraged to undergo genetic counseling to better understand the risks and options for their future family planning. They may also need to inform their children about the condition and its potential implications, including the need for regular monitoring of kidney health. Genetic testing may also be considered for their children to assess their risk of inheriting the disease.

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