What is the Difference Between Autosomal Dominant and Recessive Polycystic Kidney Disease

The key difference between autosomal dominant and recessive polycystic kidney disease lies in the inheritance pattern. In autosomal dominant polycystic kidney disease, an individual needs to inherit only one copy of the mutated gene that is responsible for the disease, while in autosomal recessive polycystic kidney disease, an individual must inherit two copies of the mutated gene responsible for the disease.

Polycystic kidney disease is a genetic disorder in which an individual develops multiple cysts in the kidneys. These cysts cause kidney enlargement, which may damage the kidneys. There are two main types of polycystic kidney disease: they are autosomal dominant and recessive polycystic kidney. Both these types are caused by abnormal genes that may pass from parents to children.

CONTENTS

1. Overview and Key Difference
2. What is Autosomal Dominant Polycystic Kidney Disease
3. What is Autosomal Recessive Polycystic Kidney Disease
4. Similarities – Autosomal Dominant and Recessive Polycystic Kidney Disease
5. Autosomal Dominant vs Recessive Polycystic Kidney Disease in Tabular Form
6. Summary – Autosomal Dominant vs Recessive Polycystic Kidney Disease

What is Autosomal Dominant Polycystic Kidney Disease?

Autosomal dominant polycystic kidney is an inherited condition that causes small fluid-filled sacs called cysts to develop in the kidneys. To develop autosomal dominant polycystic kidney disease, one needs to inherit one copy of the mutated gene that is responsible for the disease. The symptoms of this condition may include abdominal pain, hypertension, blood in the urine, serious urinary tract infections, kidney stones, and kidney failure. Moreover, the autosomal dominant polycystic kidney is caused by mutations in PKD1 (78% of cases) and PKD2 (15% of cases) genes.

An autosomal dominant polycystic kidney can be diagnosed through medical history, physical examination, and imaging tests like CT scans and MRIs. Furthermore, treatment options for autosomal dominant polycystic kidney may include management of high blood pressure, dietary sodium restriction, increased fluid intake, operations to remove any large kidney stones that develop, medications called tolvaptan to slow down the formation of cysts, dialysis (hemodialysis and peritoneal dialysis), and kidney transplantation.

What is Autosomal Recessive Polycystic Kidney Disease?

Autosomal recessive polycystic kidney disease is a rare inherited childhood condition characterized by cysts formation in the kidneys and abnormal liver development. To develop autosomal recessive polycystic kidney disease, one needs both copies of the mutated gene responsible for the disease. The symptoms of this condition may include underdeveloped lungs, high blood pressure, excessive peeing, thirst, internal bleeding, and progressive loss of kidney function (chronic kidney disease). Moreover, autosomal recessive polycystic kidney disease is caused by a genetic alteration in a gene called PKHD1 passed from parents to children.

This disease is diagnosed through medical history, physical examination, blood pressure monitoring, ultrasounds (sonogram), and kidney and liver function test. Furthermore, treatment options for autosomal recessive polycystic kidney include breathing assistance (ventilator), high blood pressure controlling medication, procedures to stop any internal bleeding, medications to control problems with the loss of kidney function, such as iron supplements for anemia, dialysis, and kidney transplants.

What are the Similarities Between Autosomal Dominant and Recessive Polycystic Kidney Disease?

• Autosomal dominant and recessive polycystic kidney disease are two types of polycystic kidney diseases.
• Both these types are inherited conditions.
• Both these types are characterized by small fluid-filled sacs.
• Abnormal genes that may pass from parents to children cause both conditions.
• Both these types can be diagnosed through physical examination and imaging tests.
• They are treated through specific medication, dialysis, and transplantation.

What is the Difference Between Autosomal Dominant and Recessive Polycystic Kidney Disease?

In order to develop autosomal dominant polycystic kidney disease, one needs the inheritance of one copy of the mutated gene that is responsible for the disease, while in order to develop autosomal recessive polycystic kidney disease, one needs the inheritance of both copies of the mutated gene that is responsible for the disease. Thus, this is the key difference between autosomal dominant and recessive polycystic kidney disease. Furthermore, autosomal dominant polycystic kidney disease is a common polycystic kidney disease, while autosomal recessive polycystic kidney disease is a very rare polycystic kidney disease.

The below infographic presents the differences between autosomal dominant and recessive polycystic kidney disease in tabular form for side-by-side comparison.

Summary – Autosomal Dominant vs Recessive Polycystic Kidney Disease

Autosomal dominant and recessive polycystic kidney disease are two different types of polycystic kidney diseases caused by inherited gene mutations. However, to develop autosomal dominant polycystic kidney disease, one needs to inherit one copy of the mutated gene that is responsible for the disease. But to develop autosomal recessive polycystic kidney disease, one needs to inherit both copies of the mutated gene that is responsible for the disease. So, this summarizes the difference between autosomal dominant and recessive polycystic kidney disease.

Reference:

1. “Autosomal recessive polycystic kidney disease.” NHS Choices, NHS.
2. “Autosomal Dominant Polycystic Kidney Disease.” National Institute of Diabetes and Digestive and Kidney Diseases, U.S. Department of Health and Human Services.

Image Courtesy:

1. “Autosomal Dominant Polycystic Kidney Disease” By User:ColnKurtz – File:Autosomal_Dominant_Polycystic_Kidney_Disease.svg (CC BY-SA 4.0) via Commons Wikimedia
2. “Autosomal Recessive Polycystic Kidney Disease” By User:ColnKurtz – File:Autosomal_recessive_polycystic_kidney_disease.svg (CC BY-SA 4.0) via Commons Wikimedia