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Article

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

CEN case reports - 1 Aug 2020

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

Abstract excerpt

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...

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Identifiers

PMID: 32185747
DOI: 10.1007/s13730-020-00464-y
PMCID: PMC7320131

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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