Piner A, Spangler R (2023) Disorders of potassium. Emerg Med Clin North Am 41:711–728. https://doi.org/10.1016/j.emc.2023.07.005

Article  PubMed  Google Scholar 

Xie QH, Hao CM (2023) Regulation of kidney on potassium balance and its clinical significance. Sheng Li Xue Bao 75:216–230

PubMed  Google Scholar 

Gallafassi EA, Bezerra MB, Rebouças NA (2023) Control of sodium and potassium homeostasis by renal distal convoluted tubules. Braz J Med Biol Res 56:e12392. https://doi.org/10.1590/1414-431X2023e12392

Article  PubMed  PubMed Central  CAS  Google Scholar 

Caputo I, Bertoldi G, Driussi G, Cacciapuoti M, Calò LA (2023) The RAAS goodfellas in cardiovascular system. J Clin Med 12. https://doi.org/10.3390/jcm12216873

Zangerl-Plessl EM, Qile M, Bloothooft M, Stary-Weinzinger A, van der Heyden MAG (2019) Disease associated mutations in K(IR) proteins linked to aberrant inward rectifier channel trafficking. Biomolecules 9. https://doi.org/10.3390/biom9110650

Blanchard A (2023) Pathophysiologic approach in genetic hypokalemia: an update. Ann Endocrinol (Paris) 84:298–307. https://doi.org/10.1016/j.ando.2022.11.005

Article  PubMed  Google Scholar 

Kim MJ, Valerio C, Knobloch GK (2023) Potassium disorders: hypokalemia and hyperkalemia. Am Fam Physician 107:59–70

PubMed  Google Scholar 

Singh V, Van Why SK (2024) Monogenic etiology of hypertension. Med Clin North Am 108:157–172. https://doi.org/10.1016/j.mcna.2023.06.005

Article  PubMed  Google Scholar 

Qu Y, Lu Y, Zhang D, Liu X, Fan P, Chen J, Zhang H, Yang K, Tian T, Zhou Y, Zhang Q, Zhang Y, Wang L, Huang Z, Liu Y, Hu A, Zhou X (2023) Identification of a novel frameshift mutation in the SCNN1B causing Liddle syndrome. Sci Bull (Beijing) 68:383–387. https://doi.org/10.1016/j.scib.2023.02.006

Article  PubMed  CAS  Google Scholar 

Steyn N, Chale-Matsau B, Abera AB, van Biljon G, Pillay TS (2023) Neonatal presentation of a patient with Liddle syndrome. South Africa. Afr J Lab Med 12:1998. https://doi.org/10.4102/ajlm.v12i1.1998

Article  PubMed  Google Scholar 

Guo W, Ji P, Xie Y (2023) Genetic diagnosis and treatment of hereditary renal tubular disease with hypokalemia and alkalosis. J Nephrol 36:575–591. https://doi.org/10.1007/s40620-022-01428-4

Article  PubMed  Google Scholar 

Lemmens-Gruber R, Tzotzos S (2023) The epithelial sodium channel-an underestimated drug target. Int J Mol Sci 24. https://doi.org/10.3390/ijms24097775

Hindosh N, Hindosh R, Dada B, Bal S (2022) Geller syndrome: a rare cause of persistent hypokalemia during pregnancy. Cureus 14:e26272. https://doi.org/10.7759/cureus.26272

Article  PubMed  PubMed Central  Google Scholar 

García-Castaño A, Gómez-Conde S, Gondra L, Herrero M, Aguirre M, de la Hoz AB, Castaño L, Madariaga L (2023) Genotypic variability in patients with clinical diagnosis of Bartter syndrome type 3. Sci Rep 13:12587. https://doi.org/10.1038/s41598-023-38179-6

Article  PubMed  PubMed Central  CAS  Google Scholar 

Geller DS, Farhi A, Pinkerton N, Fradley M, Moritz M, Spitzer A, Meinke G, Tsai FT, Sigler PB, Lifton RP (2000) Activating mineralocorticoid receptor mutation in hypertension exacerbated by pregnancy. Science 289:119–123. https://doi.org/10.1126/science.289.5476.119

Article  PubMed  CAS  Google Scholar 

Charoensri S, Auchus RJ (2023) Therapeutic management of congenital forms of endocrine hypertension. Eur J Endocrinol 189:R11–R22. https://doi.org/10.1093/ejendo/lvad140

Article  PubMed  Google Scholar 

Aglony M, Martínez-Aguayo A, Carvajal CA, Campino C, García H, Bancalari R, Bolte L, Avalos C, Loureiro C, Trejo P, Brinkmann K, Giadrosich V, Mericq V, Rocha A, Avila A, Perez V, Inostroza A, Fardella CE (2011) Frequency of familial hyperaldosteronism type 1 in a hypertensive pediatric population: clinical and biochemical presentation. Hypertension 57:1117–1121. https://doi.org/10.1161/hypertensionaha.110.168740

Article  PubMed  CAS  Google Scholar 

Tan ST, Boyle V, Elston MS (2023) Systematic review of therapeutic agents and long-term outcomes of familial hyperaldosteronism type 1. Hypertension 80:1517–1525. https://doi.org/10.1161/hypertensionaha.123.21054

Article  PubMed  CAS  Google Scholar 

Jamieson A, Inglis GC, Campbell M, Fraser R, Connell JM (1994) Rapid diagnosis of glucocorticoid suppressible hyperaldosteronism in infants and adolescents. Arch Dis Child 71:40–43. https://doi.org/10.1136/adc.71.1.40

Article  PubMed  PubMed Central  CAS  Google Scholar 

Jamieson A, Slutsker L, Inglis GC, Fraser R, White PC, Connell JM (1995) Glucocorticoid-suppressible hyperaldosteronism: effects of crossover site and parental origin of chimaeric gene on phenotypic expression. Clin Sci (Lond) 88:563–570. https://doi.org/10.1042/cs0880563

Article  PubMed  CAS  Google Scholar 

Mashmoushi A, Wolf MTF (2022) A narrative review of hyporeninemic hypertension-an indicator for monogenic forms of hypertension. Pediatr Med 5. https://doi.org/10.21037/pm-21-48

Karwacka I, Obołończyk Ł, Kaniuka-Jakubowska S, Bohdan M, Sworczak K (2021) Progress on genetic basis of primary aldosteronism. Biomedicines 9. https://doi.org/10.3390/biomedicines9111708

Lu YT, Zhang D, Zhang QY, Zhou ZM, Yang KQ, Zhou XL, Peng F (2022) Apparent mineralocorticoid excess: comprehensive overview of molecular genetics. J Transl Med 20:500. https://doi.org/10.1186/s12967-022-03698-9

Article  PubMed  PubMed Central  CAS  Google Scholar 

Funder JW (2017) Apparent mineralocorticoid excess. J Steroid Biochem Mol Biol 165:151–153. https://doi.org/10.1016/j.jsbmb.2016.03.010

Article  PubMed  CAS  Google Scholar 

Gulhan B, Ünsal Y, Baltu D, Çelik Ertaş NB, Özdemir G, Utine E, Ozcan HN, Duzova A, Gönç N (2022) Apparent mineralocorticoid excess: a diagnosis beyond classical causes of severe hypertension in a child. Blood Press Monit 27:208–211. https://doi.org/10.1097/mbp.0000000000000583

Article  PubMed  Google Scholar 

Yadav M, Sinha A, Hari P, Bagga A (2021) Impaired distal tubular acidification, renal cysts and nephrocalcinosis in monogenic hypertension. Indian J Pediatr 88:579–581. https://doi.org/10.1007/s12098-020-03516-4

Article  PubMed  Google Scholar 

Mantero F, Palermo M, Petrelli MD, Tedde R, Stewart PM, Shackleton CH (1996) Apparent mineralocorticoid excess: type I and type II. Steroids 61:193–196. https://doi.org/10.1016/0039-128x(96)00012-8

Article  PubMed  CAS  Google Scholar 

Breil T, Yakovenko V, Inta I, Choukair D, Klose D, Mittnacht J, Schulze E, Alrajab A, Grulich-Henn J, Bettendorf M (2019) Typical characteristics of children with congenital adrenal hyperplasia due to 11β-hydroxylase deficiency: a single-centre experience and review of the literature. J Pediatr Endocrinol Metab 32:259–267. https://doi.org/10.1515/jpem-2018-0298

Article  PubMed  CAS  Google Scholar 

Auchus RJ (2022) The uncommon forms of congenital adrenal hyperplasia. Curr Opin Endocrinol Diabetes Obes 29:263–270. https://doi.org/10.1097/med.0000000000000727

Article  PubMed  PubMed Central  CAS  Google Scholar 

Bulsari K, Falhammar H (2017) Clinical perspectives in congenital adrenal hyperplasia due to 11β-hydroxylase deficiency. Endocrine 55:19–36. https://doi.org/10.1007/s12020-016-1189-x

Article  PubMed  CAS  Google Scholar 

Hithayathulla MA, Putta Nagarajan HD, Gopalakrishnan V, Puliyadi Rishi K, Chandrasekaran G (2023) Beyond binary: gender reassignment in a case of 11β-hydroxylase deficiency. Cureus 15:e48644. https://doi.org/10.7759/cureus.48644

Article  PubMed  PubMed Central  Google Scholar 

Rashmi KG, Ravichandran L, Roy A, Naik D, Kamalanathan S, Sahoo J, Chapla A, Thomas N (2023) Clinical features of unrecognized congenital adrenal hyperplasia due to 17α-hydroxylase deficiency since adolescence: a case report. J ASEAN Fed Endocr Soc 38:131–134. https://doi.org/10.15605/jafes.038.02.08

Article  PubMed  PubMed Central  CAS  Google Scholar 

Dundar I, Akinci A, Camtosun E, Ciftci N, Kayas L (2023) Presentation, diagnosis, and follow-up characteristics of 17α-hydroxylase deficiency cases with exon 1–6 deletion (founder