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Isolated nephrocalcinosis due to compound heterozygous mutations in renal outer medullary potassium channel

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Abstract

Identification of a monogenic etiology is possible in a proportion of patients with childhood-onset nephrolithiasis or nephrocalcinosis. Bartter syndrome (BS), a hereditary tubulopathy characterized by polyuria, hypokalemic alkalosis and growth retardation that rarely presents with isolated nephrocalcinosis. Patients with defect in renal outer medullary potassium channel, encoded by the KCNJ1 gene causing BS type 2, typically present during the neonatal period. We describe a 14-year-old girl with mild late-onset BS type 2 with reported pathogenic compound heterozygous variations in exon 2 of KCNJ1 (c.146G > A and c.657C > G). This patient presented with isolated medullary nephrocalcinosis due to hypercalciuria; absence of hypokalemia and metabolic alkalosis was unique. This case highlights the importance of screening the KCNJ1 gene in patients with hypercalciuria and nephrocalcinosis, even in older children.

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Authors and Affiliations

  1. Division of Nephrology, Department of Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, 110029, India

    Priyanka Khandelwal, Jasintha Sabanadesan, Aditi Sinha, Pankaj Hari & Arvind Bagga

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  1. Priyanka Khandelwal
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  2. Jasintha Sabanadesan
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  3. Aditi Sinha
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  4. Pankaj Hari
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  5. Arvind Bagga
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Correspondence to Arvind Bagga.

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Khandelwal, P., Sabanadesan, J., Sinha, A. et al. Isolated nephrocalcinosis due to compound heterozygous mutations in renal outer medullary potassium channel. CEN Case Rep 9, 232–236 (2020). https://doi.org/10.1007/s13730-020-00464-y

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  • DOI: https://doi.org/10.1007/s13730-020-00464-y

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