Ontology highlight
ABSTRACT:
SUBMITTER: Khandelwal P
PROVIDER: S-EPMC7320131 | biostudies-literature | 2020 Aug
REPOSITORIES: biostudies-literature
CEN case reports 20200317 3
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 wit ...[more]