Primary HyperoxaluriaSymptoms, Doctors, Treatments, Advances & More
Learn About Primary Hyperoxaluria
Primary hyperoxaluria is a rare condition characterized by recurrent kidney and bladder stones. The condition often results in end stage renal disease (ESRD), which is a life-threatening condition that prevents the kidneys from filtering fluids and waste products from the body effectively.
Mutations in the AGXT, GRHPR, and HOGA1 genes cause primary hyperoxaluria types 1, 2, and 3, respectively. These genes provide instructions for making enzymes that are involved in the breakdown and processing of protein building blocks (amino acids) and other compounds. The enzyme produced from the HOGA1 gene is involved in the breakdown of an amino acid, which results in the formation of a compound called glyoxylate. This compound is further broken down by the enzymes produced from the AGXT and GRHPR genes.
Primary hyperoxaluria is estimated to affect 1 in 58,000 individuals worldwide. Type 1 is the most common form, accounting for approximately 80 percent of cases. Types 2 and 3 each account for about 10 percent of cases.
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.
Pierre Cochat practices practicing medicine in Bron, France. Mr. Cochat is rated as an Elite expert by MediFind in the treatment of Primary Hyperoxaluria. He is also highly rated in 19 other conditions, according to our data. His clinical expertise encompasses Primary Hyperoxaluria, Nephrocalcinosis, Primary Hyperoxaluria Type 1, Kidney Transplant, and Liver Transplant.
Bernd Hoppe practices practicing medicine in Bonn, Germany. Mr. Hoppe is rated as an Elite expert by MediFind in the treatment of Primary Hyperoxaluria. He is also highly rated in 19 other conditions, according to our data. His clinical expertise encompasses Primary Hyperoxaluria, Nephrocalcinosis, Primary Hyperoxaluria Type 1, Kidney Transplant, and Liver Transplant.
Mayo Clinic-Rochester
Dawn Milliner is a Nephrologist practicing medicine in Virginia Beach, Virginia. Dr. Milliner is rated as an Elite provider by MediFind in the treatment of Primary Hyperoxaluria. She is also highly rated in 11 other conditions, according to our data. Her clinical expertise encompasses Primary Hyperoxaluria, Primary Hyperoxaluria Type 2, Nephrocalcinosis, Kidney Transplant, and Endoscopy.
Summary: This study will attempt to identify the specific gene (coded in the DNA) and changes (mutations) within that gene that are the cause of monogenic kidney stone disease. This study will help researchers determine the characteristics of the stone disease associated with specific genes and mutations. This information may help develop more effective treatments for monogenic kidney stone diseases.
Summary: The goal of the redePHine study is to evaluate the safety, tolerability, pharmacokinetics, and pharmacodynamics of ABO-101 in participants with primary hyperoxaluria type 1 (PH1). The trial will consist of 2 Study Periods. During the first Study Period, there will be 2 parts. In Part A, adult participants will be treated with a single ascending dose to identify a recommended dose. In Part B, pedia...
Published Date: December 01, 2015
Published By: National Institutes of Health