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Aldosterone Synthase Deficiency: A Rare Cause of Salt-Wasting Syndrome in a Child.

作者信息

Barbaria Wiem, Bourcheda Manel, Karabibene Eya, Jendoubi Jihene, Khamassi Ichrak

机构信息

Department of Pediatrics, Habib Bougatfa Hospital, Faculty of Medicine of Tunis, Tunis El Manar University, Bizerte, Tunisia.

出版信息

Indian J Pediatr. 2024 Dec;91(12):1299. doi: 10.1007/s12098-024-05280-1. Epub 2024 Oct 12.

DOI:10.1007/s12098-024-05280-1

PMID:39394543

Abstract

摘要

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Aldosterone Synthase Deficiency: A Rare Cause of Salt-Wasting Syndrome in a Child.

Indian J Pediatr. 2024 Dec;91(12):1299. doi: 10.1007/s12098-024-05280-1. Epub 2024 Oct 12.

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本文引用的文献

Identification of a Novel Variant in a Family with Varying Degrees of Aldosterone Synthase Deficiency.

J Clin Res Pediatr Endocrinol. 2024 Mar 11;16(1):95-101. doi: 10.4274/jcrpe.galenos.2022.2022-3-4. Epub 2022 Jul 18.

Catch-up Growth and Discontinuation of Fludrocortisone Treatment in Aldosterone Synthase Deficiency.

J Clin Endocrinol Metab. 2022 Jan 1;107(1):e106-e117. doi: 10.1210/clinem/dgab619.

Aldosterone signaling defect in young infants: single-center report and review.

BMC Endocr Disord. 2021 Jul 9;21(1):149. doi: 10.1186/s12902-021-00811-9.

Aldosterone synthase deficiency type II: an unusual presentation of the first Greek case reported with confirmed genetic analysis.

Endocr Regul. 2020 Jul 1;54(3):227-229. doi: 10.2478/enr-2020-0025.

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Aldosterone Synthase Deficiency: A Rare Cause of Salt-Wasting Syndrome in a Child.

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