假性醛固酮减少症Ⅰ型患儿2例临床与基因分析

摘要

目的 了解2例假性醛固酮减少症Ⅰ型患儿的临床和SCNN1A基因突变特点.方法 对2例疑难病例患儿及其父母进行SCNN1A基因检测,结合临床表现和文献复习对患儿进行诊治.结果 2例患儿经基因检测确诊为假性醛固酮减少症Ⅰ型.经补钠降钾对症治疗后,2例患儿的血电解质均恢复正常,生长发育同正常同龄儿.结论 对表现为低钠性脱水、高血钾和代谢性酸中毒患儿进行鉴别诊断时,需考虑假性醛固酮减少症的可能.基因检测有助于早期诊断和正确治疗.%Objective To analyze the clinical manifestation and SCNN1A gene mutation in two infants with pseudohypoaldosteronism type I . Methods The clinical manifestations, the biochemical test results, and SCNN1A gene examinations of two patients with pseudohypoaldosteronism and their parents were analyzed and relevant literatures were reviewed. Results Two infants were finally diagnosed with pseudohypoaldosteronism type I by the gene analysis. After being treated with supplementation of high-dose sodium and the oral administration of potassium exchange resins, their critical condition of hyponatremic dehydration, hyperkalemia, and metabolic acidosis caused by the disease were improved. The growth and development of two infants were within normal range during follow-up. Conclusions Pseudohypoaldosteronism should be considered in the differential diagnosis for infants presented with hyponatremic dehydration, hyperkalemia and metabolic acidosis. Gene analysis may be helpful for the early diagnosis and appropriate treatment.