Ekinci Zelal, Aytac Mehmet Baha, Cheong Hae Il
J Pediatr Endocrinol Metab. 2013;26(11-12):1197-200. doi: 10.1515/jpem-2013-0053.
Systemic pseudohypoaldosteronism type 1 (PHA1) is characterized by excessive salt loss from the renal tubulus, colon, sweat and salivary glands. Here we present a case of systemic PHA1 whose genetic analysis revealed a homozygous splicing mutation in intron 4 of SCNN1A (c.684+2 T>A) and discuss with the patient's phenotype. Previously described systemic PHA cases show varying degrees of severity dependent on the mutation. Most of the SCNN1A gene mutations present with a severe phenotype. The long-term follow-up and phenotype of the two reported cases with splicing mutation of the SCNN1A gene are unknown. Our case, with a new splicing mutation of SCNN1A, presented with a severe phenotype in the neonatal period. Since then she has been well without any hospitalization and respiratory illness. Her requirement for medication also decreased gradually. After early infancy she presented a mild systemic PHA1 phenotype up to the age of 39 months. In conclusion, the mutation in the patient is located at the splicing site and is definitely a new and pathogenic one, and the phenotype of the patient was milder as observed in a patient with missense mutation.
1型系统性假性醛固酮减少症（PHA1）的特征是肾小管、结肠、汗腺和唾液腺过度失盐。在此，我们报告一例系统性PHA1病例，其基因分析显示SCNN1A基因第4内含子存在纯合剪接突变（c.684+2 T>A），并结合患者表型进行讨论。先前报道的系统性PHA病例显示出不同程度的严重程度，这取决于突变情况。大多数SCNN1A基因突变表现为严重表型。两例报告的SCNN1A基因剪接突变病例的长期随访情况和表型尚不清楚。我们的病例存在SCNN1A基因新的剪接突变，在新生儿期表现为严重表型。从那以后，她情况良好，未住院且未患呼吸系统疾病。她对药物的需求也逐渐减少。婴儿早期过后，直至39个月大，她表现出轻度的系统性PHA1表型。总之，该患者的突变位于剪接位点，肯定是一种新的致病突变，并且该患者的表型比错义突变患者更为轻微。
