Which of the following statements about polycystic kidney disease is true
## **Core Concept**
Polycystic kidney disease (PKD) is a genetic disorder characterized by the growth of numerous cysts filled with fluid in the kidneys, which can lead to kidney damage and failure over time. The condition is primarily associated with mutations in two genes: **PKD1** and **PKD2**, which encode for polycystin-1 and polycystin-2, respectively. These proteins play critical roles in maintaining the structure and function of renal tubules.
## **Why the Correct Answer is Right**
The correct answer relates to the understanding that autosomal dominant polycystic kidney disease (ADPKD) is the most common form of PKD and is caused by mutations in either the **PKD1** or **PKD2** gene. This form of the disease typically presents in adulthood, with features such as hypertension, cysts in the kidneys, and an increased risk of kidney failure. The autosomal dominant pattern of inheritance means that a mutation in one of the two copies of the gene is sufficient to cause the condition, and each child of an affected parent has a 50% chance of inheriting the mutated gene.
## **Why Each Wrong Option is Incorrect**
- **Option A:** This option might suggest a recessive pattern of inheritance or a different causative gene, which is not accurate for the most common form of PKD.
- **Option B:** This could imply that PKD is caused by environmental factors rather than genetic mutations, which is incorrect.
- **Option C:** If this option suggests that PKD only affects children or has a different primary manifestation, it would be incorrect because ADPKD primarily presents in adulthood.
## **Clinical Pearl / High-Yield Fact**
A key point to remember is that **ADPKD** is associated with **extrarenal manifestations**, including intracranial aneurysms, mitral valve prolapse, and cysts in other organs like the liver and pancreas. Screening for these complications may be recommended in certain cases.
## **Correct Answer:** D.