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A rare cause of hypertension in childhood: Answers

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References

  1. Monticone S, Losano I, Tetti M, Buffolo F, Veglio F, Mulatero P (2018) Diagnostic approach to low-renin hypertension. Clin Endocrinol 89:385–396

    Article  Google Scholar 

  2. Al-Harbi T, Al-Shaikh A (2012) Apparent mineralocorticoid excess syndrome: report of one family with three affected children. J Pediatr Endocrinol Metab 25:1083–1088

    Article  CAS  Google Scholar 

  3. Razzaghy-Azar M, Yau M, Khattab A, New MI (2017) Apparent mineralocorticoid excess and the long term treatment of genetic hypertension. J Steroid Biochem Mol Biol 165:145–150

    Article  CAS  Google Scholar 

  4. Yau M, Haider S, Khattab A, Ling C, Mathew M, Zaidi S, Bloch M, Patel M, Ewert S, Abdullah W, Toygar A, Mudryi V, Al Badi M, Alzubdi M, Wilson RC, Al Azkawi HS, Ozdemir HN, Abu-Amer W, Hertecant J, Razzaghy-Azar M, Funder JW, Al Senani A, Sun L, Kim SM, Yuen T, Zaidi M, New MI (2017) Clinical, genetic, and structural basis of apparent mineralocorticoid excess due to 11β-hydroxysteroid dehydrogenase type 2 deficiency. Proc Natl Acad Sci U S A 114:11248–11256

    Article  Google Scholar 

  5. Funder JW, Pearce PT, Smith R, Smith AI (1988) Mineralocorticoid action: target tissue specificity is enzyme, not receptor, mediated. Science 242:583–585

    Article  CAS  Google Scholar 

  6. Funder JW (2007) Why are mineralocorticoid receptors so nonselective? Curr Hypertens Rep 9:112–116

    Article  CAS  Google Scholar 

  7. Dave-Sharma S, Wilson RC, Harbison MD, Newfield R, Azar MR, Krozwski ZS, Funder JW, Shackleton CH, Bradlow HL, Wei JQ, Hertecant J, Moran A, Neiberger RE, Balfe JW, Fattah A, Daneman D, Akkurt HI, De Santis C, New MI (1998) Examination of genotype and phenotype relationships in 14 patients with apparent mineralocorticoid excess. J Clin Endocrinol Metab 83:2244–2254

    CAS  PubMed  Google Scholar 

  8. Werder E, Zachmann M, Vollmin JA, Veyrat R, Prader A (1974) Unusual steroid excretion in a child with low renin hypertension. Res Steroids 6:385–389

    Google Scholar 

  9. New MI, Levine S, Biglieri EG, Pareira J, Ulick S (1977) Evidence for an unidentified steroid in a child with apparent mineralocortioid hypertension. J Clin Endocrinol Metab 44:924–933

    Article  CAS  Google Scholar 

  10. Ulick S, Ramirez LC, New MI (1977) An abnormality in steroid reductive metabolism in a hypertensive syndrome. J Clin Endocrinol Metab 44:799–802

    Article  CAS  Google Scholar 

  11. Wilson RC, Krozowski ZS, Li K, Obeyesekere VR, Razzaghy-Azar M, Harbison MD, Wei JQ, Shackleton CH, Funder JW, New MI (1995) A mutation in the HSD11B2 gene in a family with apparent mineralocorticoid excess. J Clin Endocrinol Metab 80:2263–2266

    CAS  PubMed  Google Scholar 

  12. Baudrand R, Vaidya A (2018) The low-renin hypertension phenotype: genetics and the role of the mineralocorticoid receptor. Int J Mol Sci 11:19

    Google Scholar 

  13. Breiderhoff T, Himmerkus N, Stuiver M, Mutig K, Will C, Meij IC, Bachmann S, Bleich M, Willnow TE, Müller D (2012) Deletion of claudin-10 (Cldn10) in the thick ascending limb impairs paracellular sodium permeability and leads to hypermagnesemia and nephrocalcinosis. Proc Natl Acad Sci U S A 109:14241–14246

    Article  CAS  Google Scholar 

  14. Meyers N, Nelson-Williams C, Malaga-Dieguez L, Kaufmann H, Loring E, Knight J, Lifton RP, Trachtman H (2019) Hypokalemia associated with a Claudin 10 mutation: a case report. Am J Kidney Dis 73:425–428

    Article  Google Scholar 

  15. Rogers SL, Hughes BA, Jones CA, Freedman L, Smart K, Taylor N, Stewart PM, Shackleton CH, Krone NP, Blissett J, Tomlinson JW (2014) Diminished 11β-hydroxysteroid dehydrogenase type 2 activity is associated with decreased weight and weight gain across the first year of life. J Clin Endocrinol Metab 99:821–831

    Article  Google Scholar 

  16. Stenson PD, Mort M, Ball EV, Evans K, Hayden M, Heywood S, Hussain M, Phillips AD, Cooper DN (2017) The human gene mutation database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. Hum Genet 136:665–767

    Article  CAS  Google Scholar 

  17. Stewart PM, Krozowski ZS, Gupta A, Milford DV, Howie AJ, Sheppard MC, Whorwood CB (1996) Hypertension in the syndrome of apparent mineralocorticoid excess due to mutation of the 11 beta-hydroxysteroid dehydrogenase type 2 gene. Lancet 347:88–91

    Article  CAS  Google Scholar 

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Correspondence to Tulay Guran.

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This refers to the article that can be found at https://doi.org/10.1007/s00467-019-04326-3.

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Kucuk, N., Yavas Abalı, Z., Abalı, S. et al. A rare cause of hypertension in childhood: Answers. Pediatr Nephrol 35, 79–82 (2020). https://doi.org/10.1007/s00467-019-04329-0

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