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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.

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Title: 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.
Authors: Tsui HC; Department of Pediatrics and Adolescent Medicine, Pamela Youde Nethersole Eastern Hospital, Hong Kong, Hong Kong SAR, China., Cheng HT; Department of Pathology, Hong Kong Children's Hospital, Kowloon, Hong Kong SAR, China., Lam KY; Department of Pathology, Hong Kong Children's Hospital, Kowloon, Hong Kong SAR, China., Leung LT; Department of Clinical Genetics, Hong Kong Children's Hospital, Kowloon, Hong Kong SAR, China., Au KN; Department of Pediatrics and Adolescent Medicine, Tuen Mun Hospital, Hong Kong, Hong Kong SAR, China., Wong WY; Department of Pediatrics and Adolescent Medicine, Pamela Youde Nethersole Eastern Hospital, Hong Kong, Hong Kong SAR, China., Siu LY; Department of Pediatrics and Adolescent Medicine, Tuen Mun Hospital, Hong Kong, Hong Kong SAR, China., Wong LM; Department of Pediatrics and Adolescent Medicine, Tuen Mun Hospital, Hong Kong, Hong Kong SAR, China.
Source: Frontiers in pediatrics [Front Pediatr] 2025 Jun 24; Vol. 13, pp. 1550608. Date of Electronic Publication: 2025 Jun 24 (Print Publication: 2025).
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Frontiers Media SA Country of Publication: Switzerland NLM ID: 101615492 Publication Model: eCollection Cited Medium: Print ISSN: 2296-2360 (Print) Linking ISSN: 22962360 NLM ISO Abbreviation: Front Pediatr Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: 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.
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  Data: <searchLink fieldCode="AU" term="%22Tsui+HC%22">Tsui HC</searchLink>; Department of Pediatrics and Adolescent Medicine, Pamela Youde Nethersole Eastern Hospital, Hong Kong, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Cheng+HT%22">Cheng HT</searchLink>; Department of Pathology, Hong Kong Children's Hospital, Kowloon, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Lam+KY%22">Lam KY</searchLink>; Department of Pathology, Hong Kong Children's Hospital, Kowloon, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Leung+LT%22">Leung LT</searchLink>; Department of Clinical Genetics, Hong Kong Children's Hospital, Kowloon, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Au+KN%22">Au KN</searchLink>; Department of Pediatrics and Adolescent Medicine, Tuen Mun Hospital, Hong Kong, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Wong+WY%22">Wong WY</searchLink>; Department of Pediatrics and Adolescent Medicine, Pamela Youde Nethersole Eastern Hospital, Hong Kong, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Siu+LY%22">Siu LY</searchLink>; Department of Pediatrics and Adolescent Medicine, Tuen Mun Hospital, Hong Kong, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Wong+LM%22">Wong LM</searchLink>; Department of Pediatrics and Adolescent Medicine, Tuen Mun Hospital, Hong Kong, Hong Kong SAR, China.
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  Data: <searchLink fieldCode="JN" term="%22101615492%22">Frontiers in pediatrics</searchLink> [Front Pediatr] 2025 Jun 24; Vol. 13, pp. 1550608. <i>Date of Electronic Publication: </i>2025 Jun 24 (<i>Print Publication: </i>2025).
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Frontiers+Media+SA%22">Frontiers Media SA </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101615492 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Print <i>ISSN: </i>2296-2360 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2222962360%22">22962360 </searchLink><i>NLM ISO Abbreviation: </i>Front Pediatr <i>Subsets: </i>PubMed not MEDLINE
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        Value: 10.3389/fped.2025.1550608
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        Text: English
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      – TitleFull: 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.
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              Text: 2025 Jun 24
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