Bertulli Cristina, Hureaux Marguerite, De Mutiis Chiara, Pasini Andrea, Bockenhauer Detlef, Vargas-Poussou Rosa, La Scola Claudio
Nephrology and Dialysis Unit, Department of Pediatrics, Azienda Ospedaliero Universitaria Sant'Orsola-Malpighi, 40138 Bologna, Italy.
Assistance Publique Hôpitaux de Paris, Department of Genetics, Hôpital Européen Georges-Pompidou, 75015 Paris, France.
Children (Basel). 2020 Nov 5;7(11):212. doi: 10.3390/children7110212.
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 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 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.
低钾血症和代谢性碱中毒可出现在不同的罕见疾病中，对这些病症进行鉴别诊断具有挑战性。表观盐皮质激素（AME）过多综合征就是其中之一。其特征是由于钠潴留过多和血容量增加导致血压升高，由编码氧化还原酶11β - 羟类固醇脱氢酶2型的基因突变引起。我们报告了一例患儿，该患儿生长发育迟缓，伴有低钾血症、代谢性碱中毒、肾钙质沉着症和高血压的早期发现，最终检测出AME综合征。在该患者中鉴定出该基因的一个新突变。在以代谢性碱中毒和低钾血症为特征的临床症状中，评估肾素、醛固酮和血压对于准确诊断至关重要。AME综合征是一种罕见疾病，如果不治疗，可能是一种隐匿但致命的疾病，临床症状在生命的最初几天就会出现。早期诊断至关重要，以便能够及时进行充分治疗，改善这些患者的预后。
