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Autosomal dominant pseudohypoaldosteronism type 1
Other Names for this Disease
- PHA1A
- Pseudohypoaldosteronism type 1 autosomal dominant
- Pseudohypoaldosteronism type 1, dominant
- Renal PHA1
- Renal pseudohypoaldosteronism type 1
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Overview
Autosomal dominant pseudohypoaldosteronism type 1 is a disorder of electrolyte metabolism characterized by excess loss of salt in the urine, failure to thrive and dehydration. Patients typically present in the newborn period, improve with age, and usually become asymptomatic without treatment. Some adult patients with the disorder may have elevated aldosterone levels, but no history of clinical disease. Autosomal dominant pseudohypoaldosteronism type 1 (PHA1A) exhibits autosomal dominant inheritance with variable expression. It is caused by by mutations in the mineralocorticoid receptor gene (NR3C2).[1][2]
References
- Zennaro MC. Pseudohypoaldosteronism type 1. Orphanet. http://www.orphanet.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=756. Accessed December 2, 2011.
- Pseudohypoaldosteronism, Type I, Autosomal Dominant. Oline Mendelian Inheritance in Man (OMIM). http://omim.org/entry/177735. Accessed December 2, 2011.
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- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Autosomal dominant pseudohypoaldosteronism type 1. Click on the link to go to OMIM and review these resources.