Calcaterra Valeria, Roberto Giulia, La Rocca Anna, Andrenacci Beatrice, Rossi Federico, Zuccotti Gian Vincenzo, Fabiano Valentina
Pediatric and Adolescent Unit, Department of Internal Medicine, University of Pavia, 27100 Pavia, Italy.
Department of Pediatrics, Children's Hospital "V. Buzzi", 20157 Milano, Italy.
Case Rep Pediatr. 2021 Mar 8;2021:6633541. doi: 10.1155/2021/6633541. eCollection 2021.
Classical salt-wasting (SW) congenital adrenal hyperplasia (CAH) and Gitelman syndrome (GS) are two genetic conditions in which dyselectrolytemia may occur. No association between the two conditions has been previously described. . We present the case of a boy with a neonatal diagnosis of SW-CAH who showed low potassium blood levels from the age of 15 years. This electrolytic alteration was, at first, attributed to an excessive action of mineralocorticoid drugs. Due to persistence of hypokalemia, SLC12A3 whole genome sequencing was performed, showing a heterozygous C to base pair substitution at position 965 in gene SLC12A3. This mutation is related to Gitelman syndrome with autosomal recessive transmission.
SW-CAH and GS determine opposite values of potassium in the absence of specific therapy, with a natural tendency to compensate each other. The symptom overlap makes diagnosis difficult. Organic causes of hypokalemia in patients undergoing life-saving therapy should not be excluded.
经典型失盐型（SW）先天性肾上腺皮质增生症（CAH）和吉特林综合征（GS）是两种可能发生电解质紊乱的遗传疾病。此前尚未描述过这两种疾病之间的关联。我们报告一例新生儿期诊断为SW-CAH的男孩病例，该男孩从15岁起血钾水平较低。这种电解质改变起初归因于盐皮质激素药物的过度作用。由于低钾血症持续存在，对SLC12A3进行了全基因组测序，结果显示基因SLC12A3第965位碱基发生了杂合性C到 碱基对的替换。该突变与常染色体隐性遗传的吉特林综合征有关。
在没有特定治疗的情况下，SW-CAH和GS会导致相反的血钾值，且有自然相互补偿的趋势。症状重叠使得诊断困难。对于接受挽救生命治疗的患者，不应排除低钾血症的器质性病因。
