The Cause Behind Deadly Kidney Disease in Newborns Revealed

New research has provided clues into how gene defects cause autosomal recessive polycystic kidney disease (ARPKD) in babies which often leads to kidney failure.

New research has provided clues into how gene defects cause autosomal recessive polycystic kidney disease (ARPKD) in babies which often leads to kidney failure. It occurs in 1 out of 20,000 newborns.

Mutations in a gene named PKHD1 cause ARPKD, but it's not clear how. Jason Bakeberg and Christopher Ward, ChB, PhD (Mayo Clinic) led a team that bred mice to have a small tag inserted into this gene. This tag allowed the researchers to follow the activities of the protein made by the gene, called fibrocystin.

Quiz on Kidney
The kidneys are two bean-shaped organs, each about the size of a fist, and are located just below the rib cage, one on each side of your spine.

Healthy kidneys filter about half a cup of blood every minute, removing wastes and extra water to make urine. The urine flows from the kidneys to the bladder through two thin tubes of muscle called ureters, one on each side of your bladder. The bladder stores urine. The kidneys, ureters, and bladder are partof the urinary tract.

kidneys remove wastes and extra fluid from your body. Kidneys also remove acid that is produced by the cells of your body and maintain a healthy balance of water, salts, and minerals-such as sodium, calcium, phosphorus and potassium-in your blood ().

Without this balance, nerves, muscles, and other tissues in the body may not work normally.

Kidneys also make hormones that help

Control your blood pressure
Make red blood cells
Keep your bones strong and healthy

"We found that small vesicles, termed exosome-like vesicles (ELVs), present in urine and other bodily fluids have abundant fibrocystin on their surface. This has allowed us to follow ELVs as they interact with primary cilia, or small hair-like structures that project into the urine from cells within the kidney's tubules," said Dr. Ward. "We believe that ELVs are involved in transporting a range of signals through urine and that ELV interactions with cilia are central to this signaling."

The findings may help investigators to understand how PKHD1 gene mutations cause ARPKD and to develop tests for the disease. "For example we are working on urine-based tests for polycystic kidney disease based on the use of ELVs," said Dr. Ward.

Source-Newswise

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