Pseudohypoaldosteronism Type 2Symptoms, Doctors, Treatments, Advances & More
Learn About Pseudohypoaldosteronism Type 2
Pseudohypoaldosteronism type 2 (PHA2) is caused by problems that affect regulation of the amount of sodium and potassium in the body. Sodium and potassium are important in the control of blood pressure, and their regulation occurs primarily in the kidneys.
PHA2 can be caused by mutations in the WNK1, WNK4, CUL3, or KLHL3 gene. These genes play a role in the regulation of blood pressure.
PHA2 is a rare condition; however, the prevalence is unknown.
This condition is usually inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases caused by mutations in the WNK1, WNK4, or KLHL3 gene, an affected person inherits the mutation from one affected parent. While some cases caused by CUL3 gene mutations can be inherited from an affected parent, many result from new mutations in the gene and occur in people with no history of the disorder in their family.
Reading Hospital
Karthik Ranganna is an Internal Medicine specialist and a Nephrologist practicing medicine in West Reading, Pennsylvania. Dr. Ranganna is rated as an Advanced provider by MediFind in the treatment of Pseudohypoaldosteronism Type 2. He is also highly rated in 7 other conditions, according to our data. His clinical expertise encompasses Chronic Kidney Disease, Pseudohypoaldosteronism Type 2, Liddle Syndrome, Kidney Transplant, and Nephrectomy. Dr. Ranganna is board certified in American Board Of Internal Medicine.
Bassett Medical Center
Eric Knight is a Nephrologist practicing medicine in Cooperstown, New York. Dr. Knight is rated as an Advanced provider by MediFind in the treatment of Pseudohypoaldosteronism Type 2. He is also highly rated in 4 other conditions, according to our data. His clinical expertise encompasses End-Stage Renal Disease (ESRD), Chronic Kidney Disease, Pseudohypoaldosteronism Type 2, and Liddle Syndrome.
Shinichi Uchida practices practicing medicine in Tokyo, Japan. Mr. Uchida is rated as an Elite expert by MediFind in the treatment of Pseudohypoaldosteronism Type 2. He is also highly rated in 22 other conditions, according to our data. His clinical expertise encompasses Pseudohypoaldosteronism Type 1, Pseudohypoaldosteronism Type 2, Bartter Syndrome, Nephrectomy, and Liver Embolization.
Summary: Pseudohypoaldosteronism is a pathology affecting children under 6 months of age, little known but which can have serious consequences. There are no real figures on the prevalence of this pathology in France. The exact pathophysiology is not known and the management is not currently codified. This is why it is interesting to study this pathology and its treatment on a national scale in order to thi...
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: March 01, 2016
Published By: National Institutes of Health