2009
Chapter 18 Pseudohypaldosteronism Type 1 and Hypertension Exacerbated in Pregnancy
Geller D. Chapter 18 Pseudohypaldosteronism Type 1 and Hypertension Exacerbated in Pregnancy. 2009, 301-312. DOI: 10.1016/b978-0-12-449851-8.00018-8.ChaptersPseudohypoaldosteronism type 1Autosomal dominant PHA1Autosomal dominant pseudohypoaldosteronism type 1Type 1Glucocorticoid response elementAutosomal recessive pseudohypoaldosteronism type 1Renal salt wastingRare metabolic disorderElevated reninKaliuretic actionAldosterone levelsRenal resistanceAbsence of hormoneMetabolic acidosisSalt wastingMetabolic disordersReceptor functionHeterogeneous disorderFirst weekReceptorsDisease-causing mutationsHyperkalemiaAldosteronePregnancySyndrome
1998
Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I
Geller D, Rodriguez-Soriano J, Boado A, Schifter S, Bayer M, Chang S, Lifton R. Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I. Nature Genetics 1998, 19: 279-281. PMID: 9662404, DOI: 10.1038/966.Peer-Reviewed Original ResearchConceptsMineralocorticoid receptor genePseudohypoaldosteronism type IMineralocorticoid receptor functionBlood pressure homeostasisElevated aldosterone levelsSteroid hormone aldosteroneBlood pressure variationReceptor geneType IAldosterone levelsEpithelial sodium channelMild diseaseMetabolic acidosisPressure homeostasisRenal saltHormone aldosteroneSevere diseaseRegulation of saltAmiloride-sensitive epithelial sodium channelAutosomal recessive formReceptor functionHeterozygous mutationsSodium channelsUnaffected subjectsGene mutations