Scott JH, Menouar MA, Dunn RJ (2023) Physiology, Aldosterone. In: StatPearls. Treasure Island (FL): StatPearls Publishing. https://www.ncbi.nlm.nih.gov/books/NBK470339/

Antoniadi M, Vitoratou DI, Marinou M, Fafoula O, Mylona F, Palaiologou D, Leandros L, Kostaridou S (2023) Novel sonic hedgehog gene variant in a patient with hyponatremia, microsomia, and midline defects; phenotype description in association with a variant of unknown significance [c.755_757del p.(Phe252del)] and an approach to salt-wasting in SHH-related adrenal disorders. J Pediatr Endocrinol Metab. 36(6):608–613. https://doi.org/10.1515/jpem-2023-0015

Article  PubMed  Google Scholar 

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL, ACMG Laboratory Quality Assurance Committee (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genetics in medicine: official journal of the American College of Medical Genetics. 17(5),405–424. https://doi.org/10.1038/gim.2015.30 (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17(5):405–424. https://doi.org/10.1038/gim.2015.30

Haerteis S, Krappitz A, Krappitz M, Murphy JE, Bertog M, Krueger B, Nacken R, Chung H, Hollenberg MD, Knecht W, Bunnett NW, Korbmacher C (2014) Proteolytic activation of the human epithelial sodium channel by trypsin IV and trypsin I involves distinct cleavage sites. J Biol Chem. 289(27):19067–19078. https://doi.org/10.1074/jbc.M113.538470

Article  CAS  PubMed  PubMed Central  Google Scholar 

Rossier BC (2004) The epithelial sodium channel: activation by membrane-bound serine proteases. Proc Am Thorac Soc. 1(1):4–9. https://doi.org/10.1513/pats.2306007

Article  CAS  PubMed  Google Scholar 

Schild L, Lu Y, Gautschi I, Schneeberger E, Lifton RP, Rossier BC (1996) Identification of a PY motif in the epithelial na channel subunits as a target sequence for mutations causing channel activation found in Liddle syndrome. EMBO J. 15(10):2381–2387

CAS  PubMed  PubMed Central  Google Scholar 

Vuagniaux G, Vallet V, Jaeger NF, Hummler E, Rossier BC (2002) Synergistic activation of ENaC by three membrane-bound channel-activating serine proteases (mCAP1, mCAP2, and mCAP3) and serum- and glucocorticoid-regulated kinase (Sgk1) in Xenopus oocytes. J Gen Physiol. 120(2):191–201. https://doi.org/10.1085/jgp.20028598

Article  CAS  PubMed  PubMed Central  Google Scholar 

Rossier BC, Stutts MJ (2009) Activation of the epithelial sodium channel (ENaC) by serine proteases. Annu Rev Physiol. 71:361–379. https://doi.org/10.1146/annurev.physiol.010908.163108

Article  CAS  PubMed  Google Scholar 

Rotin D, Staub O (2021) Function and regulation of the epithelial na + Channel ENaC. Compr Physiol. 11(3):2017–2045. https://doi.org/10.1002/cphy.c200012

Article  PubMed  Google Scholar 

Tetti M, Monticone S, Burrello J, Matarazzo P, Veglio F, Pasini B, Jeunemaitre X, Mulatero P (2018) Liddle Syndrome: review of the literature and description of a New Case. Int J Mol Sci. 19(3):812. https://doi.org/10.3390/ijms19030812

Article  CAS  PubMed  PubMed Central  Google Scholar 

Hanukoglu I, Hanukoglu A (2016) Epithelial sodium channel (ENaC) family: phylogeny, structure-function, tissue distribution, and associated inherited diseases. Gene. 579(2):95–132. https://doi.org/10.1016/j.gene.2015.12.061

Article  CAS  PubMed  PubMed Central  Google Scholar 

He X, Modi Z, Else T (2020) Hereditary causes of primary aldosteronism and other disorders of apparent excess mineralocorticoid activity. Gland Surg. 9(1):150–158. https://doi.org/10.21037/gs.2019.11.20

Article  PubMed  PubMed Central  Google Scholar 

Liddle GW, Bledsoe T, Coppage WSJ (1963) A familial renal disorder simulating primary aldosteronism but with negligible aldosterone secretion. Trans Assoc Am Phys. 76:199–213

CAS  Google Scholar 

Botero-Velez M, Curtis JJ, Warnock DG (1994) Brief report: Liddle’s syndrome revisited–a disorder of sodium reabsorption in the distal tubule. N Engl J Med. 330(3):178–181. https://doi.org/10.1056/NEJM199401203300305

Article  CAS  PubMed  Google Scholar 

Shimkets RA, Warnock DG, Bositis CM, Nelson-Williams C, Hansson JH, Schambelan M, Gill JR Jr, Ulick S, Milora RV, Findling JW (1994) Liddle’s syndrome: heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel. Cell. 79(3):407–414. https://doi.org/10.1016/0092-8674(94)90250-x

Article  CAS  PubMed  Google Scholar 

Shabbir W, Topcagic N, Aufy M (2021) Activation of autosomal recessive Pseudohypoaldosteronism1 ENaC with aldosterone. Eur J Pharmacol. 901:174090. https://doi.org/10.1016/j.ejphar.2021.174090

Article  CAS  PubMed  Google Scholar 

Kellenberger S, Gautschi I, Rossier BC, Schild L (1998) Mutations causing Liddle syndrome reduce sodium-dependent downregulation of the epithelial sodium channel in the Xenopus oocyte expression system. J Clin Invest. 101(12):2741–2750. https://doi.org/10.1172/JCI2837

Article  CAS  PubMed  PubMed Central  Google Scholar 

Bizzarri C, Olivini N, Pedicelli S, Marini R, Giannone G, Cambiaso P, Cappa M (2016) Congenital primary adrenal insufficiency and selective aldosterone defects presenting as salt-wasting in infancy: a single center 10-year experience. Ital J Pediatr. 42(1):73. https://doi.org/10.1186/s13052-016-0282-3

Article  PubMed  PubMed Central  Google Scholar 

Lifton RP, Gharavi AG, Geller DS (2001) Molecular mechanisms of human hypertension. Cell. 104(4):545–556. https://doi.org/10.1016/s0092-8674(01)00241-0

Article  CAS  PubMed  Google Scholar 

Kleta R, Bockenhauer D (2018) Salt-Losing Tubulopathies in children: what’s New, what’s controversial? J Am Soc Nephrol. 29(3):727–739. https://doi.org/10.1681/ASN.2017060600

Article  CAS  PubMed  Google Scholar