Apparent mineralocorticoid excess in Israel: a case series and literature review.

Autor:	Lebel A; Pediatric Nephrology Unit, HaEmek Medical Center, Afula 1834111, Israel., Ben Shalom E; Pediatric Nephrology Unit, Shaare Zedek Medical Center, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem 9103102, Israel., Mokatern R; Pediatric Nephrology Unit, HaEmek Medical Center, Afula 1834111, Israel., Halevy R; Pediatric Nephrology Unit, HaEmek Medical Center, Afula 1834111, Israel., Zehavi Y; Pediatric Department B, HaEmek Medical Center, Afula 1834111, Israel., Magen D; Technion Faculty of Medicine, Pediatric Nephrology Institute, Ruth Children's Hospital, Rambam Health Care Campus, Haifa 3109601, Israel.
Jazyk:	angličtina
Zdroj:	European journal of endocrinology [Eur J Endocrinol] 2024 May 02; Vol. 190 (5), pp. 347-353.
DOI:	10.1093/ejendo/lvae049
Abstrakt:	Background and Objective: Apparent mineralocorticoid excess (AME) syndrome is an ultra-rare autosomal-recessive tubulopathy, caused by mutations in HSD11B2, leading to excessive activation of the kidney mineralocorticoid receptor, and characterized by early-onset low-renin hypertension, hypokalemia, and risk of chronic kidney disease (CKD). To date, most reports included few patients, and none described patients from Israel. We aimed to describe AME patients from Israel and to review the relevant literature. Design: Retrospective cohort study. Methods: Clinical, laboratory, and molecular data from patients' records were collected. Results: Five patients presented at early childhood with normal estimated glomerular filtration rate (eGFR), while 2 patients presented during late childhood with CKD. Molecular analysis revealed 2 novel homozygous mutations in HSD11B2. All patients presented with severe hypertension and hypokalemia. While all patients developed nephrocalcinosis, only 1 showed hypercalciuria. All individuals were managed with potassium supplements, mineralocorticoid receptor antagonists, and various antihypertensive medications. One patient survived cardiac arrest secondary to severe hyperkalemia. At last follow-up, those 5 patients who presented early exhibited normal eGFR and near-normal blood pressure, but 2 have hypertension complications. The 2 patients who presented with CKD progressed to end-stage kidney disease (ESKD) necessitating dialysis and kidney transplantation. Conclusions: In this 11-year follow-up report of 2 Israeli families with AME, patients who presented early maintained long-term normal kidney function, while those who presented late progressed to ESKD. Nevertheless, despite early diagnosis and management, AME is commonly associated with serious complications of the disease or its treatment. Competing Interests: Conflict of interest: None declared. (© The Author(s) 2024. Published by Oxford University Press on behalf of European Society of Endocrinology. All rights reserved. For commercial re-use, please contact reprints@oup.com for reprints and translation rights for reprints. All other permissions can be obtained through our RightsLink service via the Permissions link on the article page on our site—for further information please contact journals.permissions@oup.com.)
Databáze:	MEDLINE
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