Bertulli C, Hureaux M, De Mutiis C, Pasini A, Bockenhauer D, Vargas-Poussou R, et al. A rare cause of chronic hypokalemia with metabolic alkalosis: case report and differential diagnosis. Children. 2020;7:212.

PubMed  PubMed Central  Google Scholar 

Speiser PW, Riddick LM, Martin K, New MI. Investigation of the mechanism of hypertension in apparent mineralocorticoid excess. Metabolism. 1993;42:843–5.

CAS  PubMed  Google Scholar 

White PC, Mune T, Agarwal AK. 11β-hydroxysteroid dehydrogenase and the syndrome of apparent mineralocorticoid excess*. Endocr Rev. 1997;18:135–56.

CAS  PubMed  Google Scholar 

Khandelwal P, Deinum J. Monogenic forms of low-renin hypertension: clinical and molecular insights. Pediatr Nephrol. 2022;37:1495–509.

PubMed  Google Scholar 

Wilson RC, Dave-Sharma S, Wei J-Q, Obeyesekere VR, Li K, Ferrari P, et al. A genetic defect resulting in mild low-renin hypertension. Proc Natl Acad Sci. 1998;95:10200–5.

CAS  PubMed  PubMed Central  Google Scholar 

Bockenhauer D, Van’t Hoff W, Dattani M, Lehnhardt A, Subtirelu M, Hildebrandt F, et al. Secondary nephrogenic diabetes insipidus as a complication of inherited renal diseases. Nephron Physiol. 2010;116:23–9. https://doi.org/10.1159/000320117.

Article  Google Scholar 

Khositseth S, Uawithya P, Somparn P, Charngkaew K, Thippamom N, Hoffert JD, et al. Autophagic degradation of aquaporin-2 is an early event in hypokalemia-induced nephrogenic diabetes insipidus. Sci Rep. 2015;5:18311.

CAS  PubMed  PubMed Central  Google Scholar 

Abdulla M, Narayan R, Ahamed S. Renal cysts and nephrocalcinosis in 11 beta-hydroxylase deficiency. Indian J Nephrol. 2017;27:410.

CAS  PubMed  PubMed Central  Google Scholar 

Watanabe T, Tajima T. Renal cysts and nephrocalcinosis in a patient with Bartter syndrome type III. Pediatr Nephrol. 2005;20:676–8.

PubMed  Google Scholar 

Moudgil A, Rodich G, Jordan SC, Kamil ES. Nephrocalcinosis and renal cysts associated with apparent mineralocorticoid excess syndrome. Pediatr Nephrol. 2000;15:60–2.

CAS  PubMed  Google Scholar 

Segar WE. Multiple episodes of potassium deficiency. Am J Dis Child. 1965;109:295.

CAS  Google Scholar 

Tolins JP, Hostetter MK, Hostetter TH. Hypokalemic nephropathy in the rat. Role of ammonia in chronic tubular injury. J Clin Investig. 1987;79:1447–58.

CAS  PubMed  PubMed Central  Google Scholar 

Bock KD, Cremer W, Werner U. Chronic hypokalemic nephropathy: a clinical study. Klin Wochenschr. 1978;56:91–6.

PubMed  Google Scholar 

Torres VE, Young WF, Offord KP, Hattery RR. Association of hypokalemia, aldosteronism, and renal cysts. N Engl J Med. 1990;322:345–51.

CAS  PubMed  Google Scholar 

Al-Harbi T, Al-Shaikh A. Apparent mineralocorticoid excess syndrome: report of one family with three affected children. J Pediatr Endocrinol Metab. 2012;25:1083.

CAS  PubMed  Google Scholar 

Odermatt A, Dick B, Arnold P, Zaehner T, Plueschke V, Deregibus MN, et al. A mutation in the cofactor-binding domain of 11β-hydroxysteroid dehydrogenase type 2 associated with mineralocorticoid hypertension. J Clin Endocrinol Metab. 2001;86:1247–52.

CAS  PubMed  Google Scholar 

Lebel A, Ben Shalom E, Mokatern R, Halevy R, Zehavi Y, Magen D. Apparent mineralocorticoid excess in Israel: a case series and literature review. Eur J Endocrinol. 2024;190:347–53. https://doi.org/10.1093/ejendo/lvae049.

Article  CAS  PubMed  Google Scholar 

Lu YT, Zhang D, Zhang QY, Zhou ZM, Yang KQ, Zhou XL, et al. 2022 Apparent mineralocorticoid excess: comprehensive overview of molecular genetics. J Transl Med. 2022;20:500.

CAS  PubMed  PubMed Central  Google Scholar 

Knops NBB, Monnens LA, Lenders JW, Levtchenko EN. Apparent mineralocorticoid excess: time of manifestation and complications despite treatment. Pediatrics. 2011;127: e1610.

PubMed  Google Scholar 

Dave-Sharma S, Wilson RC, Harbison MD, Newfield R, Azar MR, Krozowski ZS, et al. Examination of genotype and phenotype relationships in 14 patients with apparent mineralocorticoid excess. J Clin Endocrinol Metab. 1998;83:2244–54.

CAS  PubMed  Google Scholar 

Carvajal CA, Gonzalez AA, Romero DG, González A, Mosso LM, Lagos ET, et al. Two homozygous mutations in the 11 -hydroxysteroid dehydrogenase type 2 gene in a case of apparent mineralocorticoid excess. J Clin Endocrinol Metab. 2003;88:2501–7.

CAS  PubMed  Google Scholar 

Lavery GG, Ronconi V, Draper N, Rabbitt EH, Lyons V, Chapman KE, et al. Late-onset apparent mineralocorticoid excess caused by novel compound heterozygous mutations in the HSD11B2 gene. Hypertension. 2003;42:123–9.

CAS  PubMed  Google Scholar 

Quinkler M, Bappal B, Draper N, Atterbury AJ, Lavery GG, Walker EA, et al. Molecular basis for the apparent mineralocorticoid excess syndrome in the Oman population. Mol Cell Endocrinol. 2004;217:143–9.

CAS  PubMed  Google Scholar 

Morineau G, Sulmont V, Salomon R, Fiquet-Kempf B, Jeunemaître X, Nicod J, et al. Apparent mineralocorticoid excess: report of six new cases and extensive personal experience. J Am Soc Nephrol. 2006;17:3176–84.

CAS  PubMed  Google Scholar 

Yau M, Haider S, Khattab A, Ling C, Mathew M, Zaidi S, et al. Clinical, genetic, and structural basis of apparent mineralocorticoid excess due to 11β-hydroxysteroid dehydrogenase type 2 deficiency. Proc Natl Acad Sci U S A. 2017;114:e11248–56.

CAS  PubMed  PubMed Central  Google Scholar 

Fan P, Lu YT, Yang KQ, Zhang D, Liu XY, Tian T, et al. Apparent mineralocorticoid excess caused by novel compound heterozygous mutations in HSD11B2 and characterized by early-onset hypertension and hypokalemia. Endocrine. 2020;70:607–15.

CAS  PubMed  PubMed Central  Google Scholar