An In-Depth Study, Analysis and Review of Polycystic Kidney Disease

Possible Causation, Signs and Symptoms, Pathogenesis, Histopathologic

Features and Clinical Management

Mendoza, Benjo F.
INTRODUCTION

 Background of the Disease

Polycystic Kidney Disease (PKD) was first described in medical literature in
the 18th century by Domenico Cotugno. Polycystic Kidney Disease (PKD) was not the
first and only observation but in different times and places. Cotugno’s Discoveration
has contributed various information to Physicians and Anatomists. Polycystic Kidney
Disease (PKD) is a hereditary genetic disorder characterized by the presence of
numerous fluid-filled cysts within the kidney tissue.
Trends of Occurrence

 The prevalence of CVD in the study population was 42.6%. The most common CVD
were ischemic heart diseases (19.3%), arrhythmias (14.2%), and heart failure (13.1%).
The prevalence of CVD increased with the severity of renal dysfunction (RD).
Objective of the Study
This case study will be focused on the in-depth analysis and review of Polycystic Kidney Disease on a patient’s body
Specifically, this study will seek answers to the following questions:

 What are the possible causations of Polycystic Kidney Disease?

 What are the signs and symptoms of the disease?

 What is the mechanism of occurrence (pathogenesis) of central neurocytoma in a

patient’s body?
Definition of Terms

 Cystic kidneys
are common causes of end-stage renal disease, both in children and in adults. Autosomal
dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney
disease (ARPKD) are cilia-related disorders and the two main forms of monogenic cystic
kidney diseases

Cystic Kidney Disease

This is a group of conditions that cause cysts (fluid-filled sacs) to form in or around the
kidneys. Polycystic Kidney Disease is a type of cystic kidney disease that causes clusters
of cysts to develop primarily within the kidneys, causing them to enlarge and lose function
over time
 PKD Foundation

This is a foundation that funds researchers and clinician scientists across the world who
are dedicated to finding answers to help us better understand polycystic kidney disease. The
foundation invests in dedicated PKD research, clinical and scientific grant awards, fellowships,
and scientific meetings.

 Bilateral Kidney Cysts

This refers to the presence of cysts in both kidneys. Polycystic Kidney Disease is characterized by
the growth of numerous cysts filled with fluid in the kidneys, which can reduce kidney function,
leading to kidney failure.
 Autosomal Dominant Polycystic Kidney Disease (ADPKD)

This is the most common form of PKD, which affects 1 in every 400 to 1,000 people
and is the most common kidney disorder passed down through family members. It is
usually diagnosed in adulthood and can cause complications such as high blood
pressure, cysts in the liver, and problems with blood vessels in the brain and heart.
ANATOMY AND PHYSIOLOGY

 Kidneys are two bean-shaped organs in the lower back, with nephrons filtering
and processing blood. They perform filtration, reabsorption, and secretion,
concentrating urine, controlling blood pressure, producing erythropoiesis,
activating vitamin D, and removing waste. They also regulate blood pressure,
stimulate red blood cell production, and eliminate waste through urine, which is
sent to the bladder and expelled.Spine Anatomy and Functions
Prognosis

 PKD

 Survival rate - The percentage of people who will be alive at a certain time after
diagnosis. This is also called the overall survival rate when it includes all people with a specific
cancer type.

 Survival rates can describe any given length of time. However, researchers usually give
cancer statistics as a 5-year relative survival rate.

 Disease-free and progression-free survival rates

 The overall survival rate for PKD is the percentage of people who will be alive at a certain time
after diagnosis.
MECHANISM OF THE DISEASE (PATHOGENESIS)
HISTOPATHOLOGICAL ANALYSIS AND MOLECULAR PATHOGENESIS

 Polycystic Kidney Disease (PKD) is a complex genetic disorder characterized by the

formation and uncontrolled growth of fluid-filled cysts in the kidneys, which ultimately
leads to the loss of renal function. Here, we delve into the underlying mechanisms of
PKD pathogenesis, focusing on Autosomal Dominant Polycystic Kidney Disease
(ADPKD)

 Genetic Mutations:

ADPKD is primarily caused by mutations in specific genes, particularly the PKD1 and
PKD2 genes, which encode polycystin-1 (PC1) and polycystin-2 (PC2) proteins
PHYSICAL FINDINGS

 Upon diagnosis of Polycystic Kidney Disease (PKD), the following physical

findings and clinical observations were made:

 PKD is a genetic kidney disorder characterized by the growth of numerous fluid-filled

cysts in the kidneys.

 The size and number of kidney cysts can vary, and they often lead to kidney enlargement.

 Diagnostic imaging, such as ultrasound, CT scans, or MRI, is used to visualize the extent
and distribution of cysts in the kidneys.
CLINICAL MANAGEMENT

 Regular imaging, such as ultrasound or MRI scans, is essential for monitoring

the progression of kidney cysts and assessing their impact on kidney function.

 Pain management may be necessary to alleviate discomfort associated with PKD, and
common pain relievers like Paracetamol (Biogesic) may be prescribed to address
headaches or discomfort.
 Dietary restrictions are usually not enforced for PKD patients, but maintaining a
healthy lifestyle and diet with guidance from a healthcare provider is recommended.
CONCLUSIONS

 Based on the available information, several conclusions can be drawn about Polycystic Kidney Disease
(PKD):

 PKD is a genetic disorder with a hereditary component, meaning it can be passed down through families.

 Common symptoms of PKD include headaches, migraines, and kidney enlargement, with personality
changes and retrograde amnesia as possible neurological symptoms.

 Histopathological analysis of PKD reveals the presence of numerous kidney cysts, giving a characteristic
appearance.

 Treatment options for PKD may include surgery, particularly in cases of severe symptoms or complications.
RECOMMENDATIONS

 1. Confirmation and Verification: Ensure that the patient's diagnosis and management
plan are verified by the supervising medical professional to provide precise and updated
information.

 2.Continuous Monitoring: Conduct ongoing reviews and analyses of the patient's

condition to observe the progression of kidney cysts and their impact on renal function.

 3.Research and Publication: Given the rarity of PKD, contribute to scientific journals
and studies to expand the existing knowledge base and improve the understanding and
management of this genetic kidney disorder.