Abstract：
Pseudohypoaldosteronism type 1 is a rare congenital autosomal recessive disorder, characterised by failure of receptor response to aldosterone. It is caused by mutation in SCNN1A gene with clinical features like failure to thrive in infancy, hyponatraemia, hyperkalaemia and metabolic acidosis. We present a male infant with seizures, hyperkalaemia and with failure to thrive, diagnosed at day 6 of life. The baby required repeated correction for hyperkalaemia; hence, after ruling out treatable causes for hyperkalaemia, exonerated sequencing was done which showed pathogenic mutation for cystic fibrosis and recessive mutation for pseudohypoaldosteronism. But the child was clinically in favour of pseudohypoaldosteronism. Hence, features of pseudohypoaldosteronism predominate cystic fibrosis; they both may coexist.
摘要：
假醛固酮增多症1型是一种罕见的先天性常染色体隐性遗传疾病，以醛固酮受体反应失败为特征。它是由SCNN1A基因突变引起的，具有临床特征，如婴儿期未能茁壮成长，低钠血症,高钾血症和代谢性酸中毒。我们介绍了一个癫痫发作的男婴，高钾血症和未能茁壮成长，在生命的第六天被诊断出来。婴儿需要反复纠正高钾血症；因此，在排除了高钾血症的可治疗原因后，我们进行了相关测序,结果显示囊性纤维化的致病突变和假醛固酮增多症的隐性突变.但是这个孩子在临床上赞成假醛固酮增多症。因此，假性醛固酮增多症的特征占囊性纤维化的优势；两者可能共存。
