Pseudohypoaldosteronism type 1 autosomal recessive

Common Name(s)

Pseudohypoaldosteronism type 1 autosomal recessive, Autosomal recessive pseudohypoaldosteronism type 1

Autosomal recessive pseudohypoaldosteronism type 1 is a disorder of electrolyte metabolism characterized by excess loss of salt in the urine and high concentrations of sodium in sweat, stool, and saliva. The disorder involves multiple organ systems and is especially dangerous in the newborn period. Laboratory tests may show hyponatremia, hyperkalemia, and increased plasma renin activity with high levels of aldosterone in the blood. Respiratory tract infections are common in affected children. Treatment involves aggressive salt replacement and control of hyperkalemia. The disorder may become less severe with age. Autosomal recessive pseudohypoaldosteronism type 1 (PHA1B) is transmitted in an autosomal recessive manner and is caused by mutations in the genes coding for the subunits of the amiloride-sensitive sodium channel (SCNN1A, SCNN1B and SCNN1G).
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Pseudohypoaldosteronism type 1 autosomal recessive" for support, advocacy or research.

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Pseudohypoaldosteronism

We are a group of patients and parents who have been offering support to families with Pseudohypoaldosteronism (PHA) since 2011. PHA is rare yet an important diagnosis to keep on the differential with the patients that have failure to thrive and/or laboratory abnormalities that are associated with it. We would like to find and help those who have a possible diagnosis of PHA, new diagnosis of PHA or have been diagnosed with PHA for a sometime. Our group is formed by patients with PHA type 1, dominant and recessive¬ł and PHA type 2. Our group is composed by people from all over the world who speak several languages. We would love to embrace all those affected as well as anyone seeking information on this rare condition. We are eager to help you all and help the future generation of patients.

https://www.facebook.com/#!/Pseudohypoaldosteronism.PHA

Last Updated: 21 May 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Pseudohypoaldosteronism type 1 autosomal recessive" for support, advocacy or research.

Logo
Pseudohypoaldosteronism

We are a group of patients and parents who have been offering support to families with Pseudohypoaldosteronism (PHA) since 2011. PHA is rare yet an important diagnosis to keep on the differential with the patients that have failure to thrive and/or laboratory abnormalities that are associated with it. We would like to find and help those who have a possible diagnosis of PHA, new diagnosis of PHA or have been diagnosed with PHA for a sometime. Our group is formed by patients with PHA type 1, dominant and recessive¬ł and PHA type 2. Our group is composed by people from all over the world who speak several languages. We would love to embrace all those affected as well as anyone seeking information on this rare condition. We are eager to help you all and help the future generation of patients.

https://www.facebook.com/#!/Pseudohypoaldosteronism.PHA

Last Updated: 21 May 2013

View Details

 

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Pseudohypoaldosteronism type 1 autosomal recessive" returned 0 free, full-text research articles on human participants.

Reviews from the PubMed Database

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The terms "Pseudohypoaldosteronism type 1 autosomal recessive" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.