Asaf Lebel, Efrat Ben Shalom, Rozan Mokatern, Raphael Halevy, Y. Zehavi, Daniela Magen
{"title":"Apparent Mineralocorticoid Excess in Israel: A Case Series and Literature Review.","authors":"Asaf Lebel, Efrat Ben Shalom, Rozan Mokatern, Raphael Halevy, Y. Zehavi, Daniela Magen","doi":"10.1093/ejendo/lvae049","DOIUrl":null,"url":null,"abstract":"BACKGROUND AND OBJECTIVE\nApparent 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.\n\n\nDESIGN\nRetrospective cohort study.\n\n\nMETHODS\nClinical, laboratory, and molecular data from patients' records were collected.\n\n\nRESULTS\nFive patients presented at early childhood with normal estimated glomerular filtration rate (eGFR), while two patients presented during late childhood with CKD. Molecular analysis revealed two novel homozygous mutations in HSD11B2. All patients presented with severe hypertension and hypokalemia. While all patients developed nephrocalcinosis, only one 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 five patients who presented early exhibited normal eGFR and near-normal blood pressure, but two have hypertension complications. The two patients who presented with CKD progressed to end-stage kidney disease (ESKD) necessitating dialysis and kidney transplantation.\n\n\nCONCLUSIONS\nIn this 11-year follow-up report of two 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.","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":null,"pages":null},"PeriodicalIF":5.3000,"publicationDate":"2024-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"European Journal of Endocrinology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1093/ejendo/lvae049","RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"ENDOCRINOLOGY & METABOLISM","Score":null,"Total":0}
引用次数: 0
Abstract
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 two patients presented during late childhood with CKD. Molecular analysis revealed two novel homozygous mutations in HSD11B2. All patients presented with severe hypertension and hypokalemia. While all patients developed nephrocalcinosis, only one 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 five patients who presented early exhibited normal eGFR and near-normal blood pressure, but two have hypertension complications. The two 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 two 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.
期刊介绍:
European Journal of Endocrinology is the official journal of the European Society of Endocrinology. Its predecessor journal is Acta Endocrinologica.
The journal publishes high-quality original clinical and translational research papers and reviews in paediatric and adult endocrinology, as well as clinical practice guidelines, position statements and debates. Case reports will only be considered if they represent exceptional insights or advances in clinical endocrinology.
Topics covered include, but are not limited to, Adrenal and Steroid, Bone and Mineral Metabolism, Hormones and Cancer, Pituitary and Hypothalamus, Thyroid and Reproduction. In the field of Diabetes, Obesity and Metabolism we welcome manuscripts addressing endocrine mechanisms of disease and its complications, management of obesity/diabetes in the context of other endocrine conditions, or aspects of complex disease management. Reports may encompass natural history studies, mechanistic studies, or clinical trials.
Equal consideration is given to all manuscripts in English from any country.