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Impaired Distal Tubular Acidification, Renal Cysts and Nephrocalcinosis in Monogenic Hypertension

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Abstract

Monogenic defects in tubular sodium handling contribute a small proportion to hypertension in childhood. Presentation varies from severe hypertension manifesting at birth to asymptomatic hypertension and hypokalemic metabolic alkalosis detected incidentally in adulthood. A 12-y-old girl presenting with polyuria, polydipsia, severe hypertension and seizures, was found to have hypokalemia, renal medullary cysts and nephrocalcinosis. Clinical exome revealed a homozygous variation of unknown significance in exon 5 of the HSD11B2 gene, indicating the diagnosis of apparent mineralocorticoid excess. Therapy with spironolactone was associated with resolution of hypokalemia and normal blood pressure during two-year follow up.

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Authors and Affiliations

  1. Division of Nephrology, Department of Pediatrics and ICMR Center for Advanced Research in Nephrology, All India Institute of Medical Sciences, 110029, New Delhi, India

    Menka Yadav, Aditi Sinha, Pankaj Hari & Arvind Bagga

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  1. Menka Yadav
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  2. Aditi Sinha
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  3. Pankaj Hari
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  4. Arvind Bagga
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Correspondence to Arvind Bagga.

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Yadav, M., Sinha, A., Hari, P. et al. Impaired Distal Tubular Acidification, Renal Cysts and Nephrocalcinosis in Monogenic Hypertension. Indian J Pediatr 88, 579–581 (2021). https://doi.org/10.1007/s12098-020-03516-4

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  • DOI: https://doi.org/10.1007/s12098-020-03516-4

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