Case Report: Type II Bartter syndrome with a novel KCNJ1 variant in a premature neonate presenting with features of salt-wasting congenital adrenal crisis and pseudo-hypoaldosteronism

Case Report: Type II Bartter syndrome with a novel KCNJ1 variant in a premature neonate presenting with features of salt-wasting congenital adrenal crisis and pseudo-hypoaldosteronism

IntroductionBartter syndrome (BS) is a rare group of inherited renal tubulopathies. Diagnosis of BS type II is challenging in the neonatal period as its clinical findings and biochemical features may mimic that of adrenal crisis and pseudo-hypoaldosteronism (PHA) initially. Treatment should be insti...

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Main Authors: Heung-Ching Tsui, Hua Tse-Timothy Cheng, Kai-Yee Lam, Lai-Ting Leung, Ka-Nam Au, Wai-Yu Wong, Luen Yee-Sylvia Siu, Lap-Ming Wong
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-06-01
Series:Frontiers in Pediatrics
Subjects:
antenatal Bartter syndrome
pseudohypoaldosteronism
adrenal crisis
genotype phenotype correlation
KCNJ1 gene
severe polyhydramnios
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2025.1550608/full
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