Changes in Certain Facial Structures Associated With Kidney Disease

According to a new study, people with certain changes in facial structures may be at an increased risk of being diagnosed with a kidney disease called Autosomal Dominant Polycystic Kidney Disease, due to the genes that they carry. These people have subtle changes in facial structure, like a slightly longer face, long nose and an asymmetrical face.

The study was led by professor Sharpe from the King's College London's Dental Institute, who found specific facial and dental features in mice that carried the genes for the disease.

The disease - Polycystic Kidney Disease - is a kidney disorder that runs in families, usually as an autosomal dominant trait. In this condition, cysts form in the kidney, causing enlargement of the organ. In an autosomal dominant trait, a person needs to get the abnormal gene from any one of the parents to inherit the disease. Autosomal dominant PKD occurs in about 1 in every 1,000 Americans, which may be a conservative estimate as there are a lot of people who carry the disease and don't show any symptoms.

About 64 to 85 percent of the families with ADPKD have mutations in the PKD1 gene and about 15-36 percent have mutations in a gene called PKD2. Researchers in this study found facial and dental changes in mice that have PKD2 mutation.

Researchers then conducted a study on patients with PKD to see whether these patients had facial abnormalities. The study included 11 females and 8 males who were around 48 years old. None of the patients had reached advanced stages of the disease. Researchers then used 3-D facial shape analysis to check for any changes in facial structure.

Researchers found that people with the kidney disease were more likely to have a slightly elongated face, with long nose and less symmetrical face.

"Surprisingly this analysis revealed specific characteristics of ADPKD patient faces, some of which correlated with those of the mutant mice," said Sharpe in a news release. "Our results suggest that PKD2 mutations are thus not only responsible for kidney disease but also craniofacial anomalies in mice and characteristic human features."

"To what extent analysis of facial features can be used to diagnose disease is an intriguing question that requires further investigation," concluded Sharpe.

The study is published in the journal Human Molecular Genetics.