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.
Shinichi Uchida practices in Tokyo, Japan. Uchida is rated as an Elite expert by MediFind in the treatment of Pseudohypoaldosteronism Type 2. He is also highly rated in 28 other conditions, according to our data. His top areas of expertise are Pseudohypoaldosteronism Type 2, Pseudohypoaldosteronism Type 1, Gitelman Syndrome, Nephrogenic Diabetes Insipidus, and Liver Embolization.
Takayasu Mori practices in Tokyo, Japan. Mori is rated as an Elite expert by MediFind in the treatment of Pseudohypoaldosteronism Type 2. They are also highly rated in 22 other conditions, according to our data. Their top areas of expertise are Pseudohypoaldosteronism Type 1, Pseudohypoaldosteronism Type 2, Gitelman Syndrome, Nephrogenic Diabetes Insipidus, and Liver Embolization.
Eisei Sohara practices in Tokyo, Japan. Sohara is rated as an Elite expert by MediFind in the treatment of Pseudohypoaldosteronism Type 2. They are also highly rated in 20 other conditions, according to our data. Their top areas of expertise are Pseudohypoaldosteronism Type 2, Pseudohypoaldosteronism Type 1, Bartter Syndrome, Low Potassium Level, and Liver Embolization.
Summary: The purpose of this study is to establish a registry of individuals with Chopra-Amiel-Gordon Syndrome to learn more about the range of symptoms, changes in the structure of the brain seen on imaging, and learning difficulties that individuals with this disorder may experience. The investigators will obtain medical history, family history, MRI records, patient photographs, and genetic test results ...
Published Date: March 01, 2016Published By: National Institutes of Health