A case of pseudohypoaldosteronism type 1 with a mutation in the mineralocorticoid receptor gene

@inproceedings{Lee2011ACO,
  title={A case of pseudohypoaldosteronism type 1 with a mutation in the mineralocorticoid receptor gene},
  author={Se Eun Lee and Yun Hye Jung and Kyoung Hee Han and Hyun Kyung Lee and Hee Gyung Kang and Il Soo Ha and Yong Choi and Hae Il Cheong},
  booktitle={Korean journal of pediatrics},
  year={2011}
}
Pseudohypoaldosteronism type 1 (PHA1) is a rare form of mineralocorticoid resistance characterized in newborns by salt wasting with dehydration, hyperkalemia and failure to thrive. This disease is heterogeneous in etiology and includes autosomal dominant PHA1 owing to mutations of the NR3C2 gene encoding the mineralocorticoid receptor, autosomal recessive PHA1 due to mutations of the epithelial sodium channel (ENaC) gene, and secondary PHA1 associated with urinary tract diseases. Amongst these… CONTINUE READING

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