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Case Report

A Rare Cause of Chronic Hypokalemia with Metabolic Alkalosis: Case Report and Differential Diagnosis

1
Nephrology and Dialysis Unit, Department of Pediatrics, Azienda Ospedaliero Universitaria Sant’Orsola-Malpighi, 40138 Bologna, Italy
2
Assistance Publique Hôpitaux de Paris, Department of Genetics, Hôpital Européen Georges-Pompidou, 75015 Paris, France
3
Department of Paediatric Nephrology, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK
4
Department of Renal Medicine, University College London, London WC1E 6BT, UK
*
Author to whom correspondence should be addressed.
Children 2020, 7(11), 212; https://doi.org/10.3390/children7110212
Received: 28 August 2020 / Revised: 8 October 2020 / Accepted: 28 October 2020 / Published: 5 November 2020
(This article belongs to the Special Issue Advances in Pediatric Renal Diseases)
Hypokalemia and metabolic alkalosis can be present in different rare diseases, and the differential diagnosis of these forms is challenging. Apparent mineralcorticoid (AME) excess syndrome is one of these conditions. Characterized by increased blood pressure due to excessive sodium retention and plasma volume, it is caused by a mutation in the HSD11B2 gene encoding the oxydoreductase enzyme 11β-hydroxysteroide dehydrogenase type 2. We report the case of a child presenting with failure to thrive associated with early detection of hypokalemia, metabolic alkalosis, nephrocalcinosis and hypertension in which AME syndrome was detected. A novel mutation in the HSD11B2 gene was identified in this patient. In clinical pictures characterized by metabolic alkalosis and hypokalemia, the evaluation of renin, aldosterone and blood pressure is crucial for accurate diagnosis. AME syndrome is a rare disorder that can be an insidious but lethal disease, if untreated. With clinical signs appearing during the first days of life. Early diagnosis is imperative in order to enable prompt and adequate treatment to improve the outcome of these patients. View Full-Text
Keywords: hypokalemia; metabolic alkalosis; renin; aldosterone; monogenic hypertension; apparent excess of mineralcorticoid hypokalemia; metabolic alkalosis; renin; aldosterone; monogenic hypertension; apparent excess of mineralcorticoid
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MDPI and ACS Style

Bertulli, C.; Hureaux, M.; De Mutiis, C.; Pasini, A.; Bockenhauer, D.; Vargas-Poussou, R.; La Scola, C. A Rare Cause of Chronic Hypokalemia with Metabolic Alkalosis: Case Report and Differential Diagnosis. Children 2020, 7, 212. https://doi.org/10.3390/children7110212

AMA Style

Bertulli C, Hureaux M, De Mutiis C, Pasini A, Bockenhauer D, Vargas-Poussou R, La Scola C. A Rare Cause of Chronic Hypokalemia with Metabolic Alkalosis: Case Report and Differential Diagnosis. Children. 2020; 7(11):212. https://doi.org/10.3390/children7110212

Chicago/Turabian Style

Bertulli, Cristina, Marguerite Hureaux, Chiara De Mutiis, Andrea Pasini, Detlef Bockenhauer, Rosa Vargas-Poussou, and Claudio La Scola. 2020. "A Rare Cause of Chronic Hypokalemia with Metabolic Alkalosis: Case Report and Differential Diagnosis" Children 7, no. 11: 212. https://doi.org/10.3390/children7110212

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