Eyewitness News
Local News
Pinpoint Weather
Eyewitness Sports
Call For Action
What's On WPRI
What's On Fox
Eyewitness Email
Station Info
Online Store

 September 27, 2003
House & Home
Yellow Pages
Genetic Link to Kidney Disorder Found
Email to a Friend
Printer Friendly Version

MONDAY, July 21 (HealthDayNews) -- Two genetic mutations linked to the kidney disorder nephronophthisis (NPHP) are identified in two studies published in the August issue of Nature Genetics.

NPHP is the most common genetic cause of end-stage renal failure in children and young adults. Previous studies mapped four NPHP loci but identified only two genes -- nephrocystin and nephrocystin-4 -- linked to a juvenile form of the disease.

In the first of the two studies, University of Michigan researcher Friedhelm Hildebrandt and colleagues found that a form of NPHP in infants is caused by mutations in a gene called inversin.

The study also found inversin interacts with nephrocystin and is found in the primary cilium of the kidney. That's the area of the kidney that's affected in polycystic kidney disease, which has features that overlap those found in NPHP.

The second study was done by researchers at University Hospital in Freiburg, Germany. They identified a gene -- NPHP3 -- that is mutated in an adolescent form of NPHP.

The NPHP3 gene also interacts with nephrocystin. That suggests that the four NPHP genes together constitute a complex and may act by sensing signals from neighboring cells.

The German study also found mutations in NPHP3 are likely the cause of a particular mouse kidney disease called pcy. The researchers note that mice with pcy can be treated with a modified diet and steroids. That suggests a possible therapy for humans with NPHP.

More information

Here's where you can learn more about kidney diseases.

--Robert Preidt

SOURCE: Nature Genetics, news release, July 20. 2003

Copyright � 2003 ScoutNews, LLC. All rights reserved.

Health News | Health Encyclopedia | Quizzes and Tools | Women's Health | Men's Health | Children's Health | Seniors' Health | Diet, Fitness and Self Image | Sex and Relationships
Health Encyclopedia: Children's Health
Insect Bites And Stings
Immunizations - Child
Umbilical Hernia In Infants
Precocious Puberty
Reye's Syndrome
Respiratory Syncytial Virus
Whooping Cough
Tietze's Syndrome (Costochondritis)
Seizures In Children
Children's Health News
Cheap Beer Leads to College Binges
Children and Cavities
Toys For Tots
A School Policy Lousy with Controversy
The Basics of Healthy Writing
Good Learning and Homework Habits
How to Start the School Year Right
Vaccination Guide
Back-To-School Takes Toll on Parents' Sleep
Toy Time

Pinpoint Doppler Radar

What's New
Find out what's new and useful on our website!
Defeating Depression
Learn the causes & understand treatment.
It's National Singles Week!
Read stats and see who's available!
Winning Resumes:
An insider tells all.
Sick of your job?
Find a new one now!
Focus on Diabetes:
Symptoms, treatments, and news.
Send questions and comments about this website to the .
All content © Copyright 2003, WorldNow, WPRI, WNAC and Associated Press. All Rights Reserved.
For more information on this site, please read our Privacy Policy and Terms of Service.