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Autosomal recessive pseudohypoaldosteronism type 1
Other Names for this Disease
- Generalized PHA1
- Generalized pseudohypoaldosteronism type 1
- PHA1B
- Pseudohypoaldosteronism type 1 autosomal recessive
- Pseudohypoaldosteronism type 1, recessive
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Overview
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).[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 Recessive. Online Mendelian Inheritance in Man (OMIM). http://omim.org/entry/264350. Accessed December 2, 2011.
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