Jump to:  A   |   B   |   C   |   D   |   E   |   F   |   G   |   H   |   I   |   J   |   K   |   L   |   M   |   N   |   O   |   P   |   Q   |   R   |   S   |   T   |   U   |   V   |   W   |   X   |   Y

Researchers Spot Mutant Gene Behind Defects That Can Cause Kidney Failure

THURSDAY, July 18 (HealthDay News) -- Scientists say they've identified a genetic mutation that causes kidney and urinary tract defects.

This is a common type of birth defect, and the leading cause of kidney failure in children.

Columbia University researchers studied a family on the island of Sardinia with inherited kidney and urinary tract defects. Several members of the family had suffered kidney failure at a young age. All of the family members with kidney and urinary tract defects had a mutation in a gene called dual serine/threonine and tyrosine protein kinase (DSTYK).

The researchers then looked at 311 unrelated people with urinary tract defects from around Europe. They found that seven of them had DSTYK mutations, according to the study published online July 17 in the New England Journal of Medicine.

"These findings indicate that DSTYK mutations account for 2.2 percent of urinary tract defects in humans, which is very significant as a single-gene cause of this disease," study author Dr. Simone Sanna-Cherchi said in a Columbia University Medical Center news release.

Some people with inherited urinary tract defects have kidney failure at birth, while in others the defects are not evident until complications arise, sometimes years later. The discovery of this gene mutation will enable doctors to identify people with the mutation.

The research team plans to do more genetic testing, to identify other mutations that can cause urinary tract defects.

More information

The National Kidney Foundation has more about kidney and urinary tract birth defects.

SOURCE: Columbia University Medical Center, news release, July 17, 2013

Reviewed Date: --

This content was reviewed by Mid-Atlantic Womens Care, PLC. Please visit their site to find an Mid-Atlantic Womens Care obstetrician.

Find a pediatrician
Helpful Information
Mid-Atlantic Womens's Care
Nephrology
J. Bryan Carmody, MD
Reem Raafat, MD
Irene Restaino, MD
Hematology and Oncology
Herbert Bevan, MD
Megan Burke, MD
Raven Cooksey, MD
Eric Lowe, MD
Melissa Mark, MD
William Owen, MD
Linda Pegram, MD
Anthony Villella, MD
Eric Werner, MD
Children's Urology
Charles Horton Jr., MD
Jyoti Upadhyay, MD
Louis Wojcik, MD
Health Tips
Growing Up Short or Heavy Can Be Difficult
Helping Children Conquer Fear
How Old Is 'Old Enough' for Contacts?
How to Prevent Childhood Obesity
Kids' Health Concerns Ease with Age
What Kids Drink Is Important, Too
When Your Child Says, 'I'm Sick'
Diseases & Conditions
AIDS/HIV in Children
Anatomy of a Child's Brain
Anatomy of the Endocrine System in Children
Anxiety Disorders in Children
Asthma and Children
Asthma in Children Index
Bicycle, In-Line Skating, Skateboarding Safety--Injury Statistics and Incidence Rates
Bipolar Disorder in Children
Bone Marrow Transplantation in Children
Brain Tumors in Children
Chemotherapy for Children: Side Effects
Diphtheria in Children
During an Asthma Attack
Ewing Sarcoma
Firearms
Genetics
Glossary - Genitourinary and Kidney Disorders
Glossary - Medical Genetics
Hepatitis B (HBV) in Children
Inflammatory and Infectious Musculoskeletal Disorders
Inflammatory and Infectious Neurological Disorders
Inguinal Hernia in Children
Insect Bites and Children
Kidney Transplantation in Children
Meningitis in Children
Mood Disorders in Children and Adolescents
Muscular Dystrophy
Myasthenia Gravis in Children
Online Resources - Genitourinary and Kidney Disorders
Online Resources - Medical Genetics
Osteosarcoma in Children
Overview of Kidney Disorders in Children
Pediatric Blood Disorders
Poliomyelitis (Polio) in Children
Post-Traumatic Stress Disorder in Children
Preparing the School-Aged Child for Surgery
Schizophrenia in Children
School-Aged Child Nutrition
Slipped Capital Femoral Epiphysis
Sports Safety for Children
Superficial Injuries Overview
Television and Children
Thalassemia
The Growing Child: 2-Year-Olds
The Heart
The Kidneys
Urinary Tract and Kidney Infections
Vision Overview
Whooping Cough (Pertussis)

Disclaimer: This information is not intended to substitute or replace the professional medical advice you receive from your child's physician. The content provided on this page is for informational purposes only, and was not designed to diagnose or treat a health problem or disease. Please consult your child's physician with any questions or concerns you may have regarding a medical condition.