What is the Difference Between Autosomal Dominant and Recessive Polycystic Kidney Disease?
🆚 Go to Comparative Table 🆚Autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD) are two different types of polycystic kidney disease, a genetic disorder in which cysts develop in the kidneys, causing them to enlarge and potentially leading to damage. The main differences between ADPKD and ARPKD include:
- Incidence: ADPKD is more common than ARPKD, with roughly 9 out of 10 people with PKD having ADPKD.
- Pattern of inheritance: To develop ADPKD, a person only needs to inherit one copy of the mutated gene responsible for the disease. In contrast, to develop ARPKD, a person must have two copies of the mutated gene, with one copy inherited from each parent, in most cases.
- Age of onset: ADPKD typically occurs in adults, with signs and symptoms developing between the ages of 30 and 40. ARPKD, on the other hand, is often called "infantile PKD" because signs and symptoms appear early in life, shortly after birth or later in childhood.
- Location of cysts: Both ADPKD and ARPKD often cause cysts to develop in the kidneys, liver, and sometimes other organs. However, ADPKD mainly affects the kidneys, while ARPKD often affects both the kidneys and liver.
In summary, ADPKD is more common, develops later in life, and is associated with mutations in one gene, while ARPKD is rarer, develops earlier in life, and is associated with mutations in two genes. The location of cysts and the pattern of inheritance also differ between the two types of polycystic kidney disease.
Comparative Table: Autosomal Dominant vs Recessive Polycystic Kidney Disease
Autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD) are two different variants of polycystic kidney disease (PKD) that are inherited in distinct ways. Here is a table comparing the differences between the two:
| Feature | Autosomal Dominant PKD (ADPKD) | Autosomal Recessive PKD (ARPKD) |
|---|---|---|
| Inheritance | Inherited from one parent with the disease | Inherited from both parents carrying the mutated gene |
| Gene Mutation | Mutation in the PKD1 or PKD2 genes | Mutation in the PKHD1 gene |
| Onset | Generally develops between the ages of 30 and 40 | Usually diagnosed in infancy or early childhood |
| Symptoms | Slowly enlarging kidney cysts, high blood pressure, pain, growth of cysts in the liver | Enlarged kidneys, cysts in the kidneys and sometimes the liver, high blood pressure in early childhood |
| Prevalence | More common than ARPKD, affecting approximately 1 in 400 to 1 in 1,000 people | Less common than ADPKD, affecting approximately 1 in 20,000 people |
| Treatment | Focused on managing symptoms, such as high blood pressure, pain, and slowing the progression of the disease | Focused on managing high blood pressure and other complications in early childhood |
Both ADPKD and ARPKD belong to the group of ciliopathies, which are disorders related to the function of cellular cilia, but they differ significantly in terms of genetics and clinical manifestations.
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