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. |
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| 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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| ISSN: | 2296-2360 |
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| DOI: | 10.3389/fped.2025.1550608 |
