A case of SCNN1A splicing mutation presenting as mild systemic pseudohypoaldosteronism type 1

作者：Ekinci Zelal^*; Aytac Mehmet Baha; Cheong Hae Il

来源：Journal of Pediatric Endocrinology & Metabolism, 2013, 26(11-12): 1197-1200.

DOI：10.1515/jpem-2013-0053

• genotype-phenotype
• SCNN1A
• systemic pseudohypoaldosteronism type 1

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+2T>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.

• 出版日期2013-11