Bartter Syndrome Overview
Learn About Bartter Syndrome
Bartter syndrome is a group of very similar kidney disorders that cause an imbalance of potassium, sodium, chloride, and related molecules in the body.
Bartter syndrome can be caused by mutations in at least five genes. Mutations in the SLC12A1 gene cause type I. Type II results from mutations in the KCNJ1 gene. Mutations in the CLCNKB gene are responsible for type III. Type IV can result from mutations in the BSND gene or from a combination of mutations in the CLCNKA and CLCNKB genes.
The exact prevalence of this disorder is unknown, although it likely affects about 1 per million people worldwide. The condition appears to be more common in Costa Rica and Kuwait than in other populations.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Kandai Nozu practices in Kobe, Japan. Nozu is rated as an Elite expert by MediFind in the treatment of Bartter Syndrome. Their top areas of expertise are Bartter Syndrome, Alport Syndrome, Nephrotic Syndrome, Nephrectomy, and Kidney Transplant.
Rosa Poussou-Vargas practices in Paris, France. Ms. Poussou-Vargas is rated as an Elite expert by MediFind in the treatment of Bartter Syndrome. Her top areas of expertise are Bartter Syndrome, Nephrocalcinosis, Gitelman Syndrome, Magnesium Deficiency, and Kidney Transplant.
Kamel Laghmani practices in Paris, France. Mr. Laghmani is rated as an Elite expert by MediFind in the treatment of Bartter Syndrome. His top areas of expertise are Bartter Syndrome, Polyhydramnios, Hyperaldosteronism, and Cerebral Hypoxia.
Summary: The goal of this National Registry is to is to collect information from patients with rare kidney diseases, so that it that can be used for research. The purpose of this research is to: * Develop Clinical Guidelines for specific rare kidney diseases. These are written recommendations on how to diagnose and treat a medical condition. * Audit treatments and outcomes. An audit makes checks to see if ...
Published Date: February 01, 2011
Published By: National Institutes of Health