What is the function of polycystin-1?

Polycystin-1 and polycystin-2 likely work together to help regulate cell growth and division (proliferation), cell movement (migration), and interactions with other cells. Polycystin-1 is also found in cell structures called primary cilia.

What is PKD1 and PKD2?

The PKD1 and PKD2 genes encode the proteins polycystin-1 and polycystin-2, respectively. These two proteins interact to regulate cells in the kidneys and liver, are a part of the process to form tubular structures, and influence growth and fluid secretion function.

What chromosome is PKD1?

Genetics of ADPKD. ADPKD is genetically heterogeneous and can arise from mutations in two genes, named PKD1 and PKD2 (15,16). Mutations of PKD1 located on chromosome 16p13.

What is the PKHD1 gene?

The PKHD1 gene provides instructions for making a protein called fibrocystin (sometimes known as polyductin). This protein is present in fetal and adult kidney cells, and is also present at low levels in the liver and pancreas.

What is Alport disease?

Alport syndrome is a disease that damages the tiny blood vessels in your kidneys. It can lead to kidney disease and kidney failure. It can also cause hearing loss and problems within the eyes.

What is Nephronophthisis?

Nephronophthisis is a disorder that affects the kidneys. It is characterized by inflammation and scarring (fibrosis) that impairs kidney function . These abnormalities lead to increased urine production (polyuria), excessive thirst (polydipsia), general weakness, and extreme tiredness (fatigue).

Is PKD a death sentence?

But PKD isn’t a death sentence or the harbinger of lost hope. There are many things you can do to ensure your ability to enjoy a healthy pregnancy while managing PKD.

Does kidney disease skip generations?

Type 1 usually affects patients at a young age. Type 2 may be undetected until later age and some patients never develop chronic kidney disease (CKD) or kidney failure requiring dialysis. ADATPCKD does not skip generations, but may go undetected in one generation.

Is polycystic kidney disease in one chromosome?

Most cases of polycystic kidney disease have an autosomal dominant pattern of inheritance. People with this condition are born with one mutated copy of the PKD1 or PKD2 gene in each cell.

What is the difference between ARPKD and Adpkd?

ADPKD often causes cysts to develop only in the kidneys, while ARPKD often causes cysts to develop in the liver and the kidneys. People with either type may also develop cysts in their pancreas, spleen, large bowel, or ovaries.

What is an autosomal recessive disorder?

To have an autosomal recessive disorder, you inherit two mutated genes, one from each parent. These disorders are usually passed on by two carriers. Their health is rarely affected, but they have one mutated gene (recessive gene) and one normal gene (dominant gene) for the condition.

Is Alport syndrome more common in males or females?

More women are affected than men in X-linked Alport syndrome. Families of offspring of a male (A) and a female (B) with X-linked Alport syndrome demonstrating more affected females than males in their combined offspring (three times as many, 3:1 in one generation; and overall twice as many, 4:2 in the two generations).

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