Integrative Kidney Institute periodically publishes protocols that can be used in the integrative management of certain kidney diseases. Our mission is to end the chronic kidney disease epidemic using best practices and scientific evidence. Medical research continues to evolve and information that could be relevant today may become obsolete tomorrow. We use these protocols in routine patient care and while we hope they will be useful for you. we also encourage you to stay up to date on current medical literature. Here we will introduce polycystic kidney disease protocol.
Polycystic kidney disease (PKD) is the most common inherited kidney disease affecting one in 800 people. It includes two genetic disorders that affect the kidneys and cause the formation of multiple fluid-filled cysts of various sizes. As these cysts grow, they squeeze and destroy normal kidney tissue, eventually leading to loss of kidney function.

Genetics of PKD

PKD is an inherited disease, meaning it’s passed down genetically from parent to child, just like eye or hair color. Polycystic kidney disease can be autosomal-dominant (ADPKD), affecting 50% of offspring. Or it can be autosomal-recessive (ARPKD), affecting 25% of offspring.
Mutations in one of two genes (PKD1 or PKD2) account for most cases of ADPKD. Polycystic kidney disease 1 gene (PKD1) mutations are the most common. About 80 percent of patients affected by ADPKD have a PKD1 mutation. PKD2 gene is the cause of up to 20% of ADPKD cases and it is usually associated with milder course.

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The PKD1 and PKD2 genes provide the blueprints for important kidney and liver proteins called polycystin1- (PC1) and polycystin2- (PC2). These proteins are crucial for the structure of the kidneys’ tubular cells, which filter and clean the blood. PC1 and PC2 influence healthy growth and fluid secretion in these cells. However, in people with hereditary kidney disease, abnormal genetic blueprints lead to the production of abnormal proteins. When these kidney proteins don’t work properly, cysts accumulate and damage the kidney.
You can find more information in this blog.

From genotype to phenotype

The exact function of PC1 and PC2 is not completely clear. However, it is believed that they regulate calcium influx into the cells and mitochondria. This makes them essential for various cellular messengers such as cyclic adenosine monophosphate (CAMP) and mammalian target of rapamycin (mTOR) pathways. These cellular messengers lead to an abnormally increased growth in the tubular cells. They also lead to an increased fluid secretion by these cells. Watch this video for more information. They also affect aerobic glycolysis in the mitochondria.

Evaluation and management

The evaluation of PKD requires further evaluation beyond the routine history, physical and conventional imaging and laboratory tests. The evaluation requires a deep dive into the individual patient characteristics to risk stratify them according to their likelihood of developing end-stage kidney disease before the age of 60. Accordingly, a unique management plan can be built for the patient. You can download the protocol here.