Childhood Kidney Diseases

Korean Society of Pediatric Nephrology (대한소아신장학회)
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A Case of Autosomal Recessive Pseudohypoaldosteronism Type 1 with a Novel Mutation in the SCNN1A Gene

SCNN1A 유전자 변이로 발생한 상염색체 열성 가성 저 알도스테론증 1형 1례

  • Kim, Su-Yon (Department of Pediatrics, Asan Medical Center, Children's Hospital, University of Ulsan College of Medicine) ;
  • Lee, Joo Hoon (Department of Pediatrics, Asan Medical Center, Children's Hospital, University of Ulsan College of Medicine) ;
  • Cheong, Hae Il (Department of Pediatrics, Seoul National University Children's Hospital) ;
  • Park, Young Seo (Department of Pediatrics, Asan Medical Center, Children's Hospital, University of Ulsan College of Medicine)
  • 김수연 (울산대학교 의과대학 서울아산병원 소아청소년병원 소아청소년과) ;
  • 이주훈 (울산대학교 의과대학 서울아산병원 소아청소년병원 소아청소년과) ;
  • 정해일 (서울대학교 어린이병원 소아청소년과) ;
  • 박영서 (울산대학교 의과대학 서울아산병원 소아청소년병원 소아청소년과)
  • Received : 2013.09.13
  • Accepted : 2013.10.15
  • Published : 2013.10.31
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Abstract

Pseudohypoaldosteronism (PHA) is a condition characterized by renal salt wasting, hyperkalemia, and metabolic acidosis due to renal tubular resistance to aldosterone. Systemic PHA1 is a more severe condition caused by defective transepithelial sodium transport due to mutations in the genes encoding the ${\alpha}$ (SCNN1A), ${\beta}$ (SCNN1B), or ${\gamma}$ (SCNN1G) subunits of the epithelial sodium channel at the collecting duct, and involves the sweat glands, salivary glands, colon, and lung. Although systemic PHA1 is a rare disease, we believe that genetic studies should be performed in patients with normal renal function but with high plasma renin and aldosterone levels, without a history of potassium-sparing diuretic use or obstructive uropathy. In the present report, we describe a case of autosomal recessive PHA1 that was genetically diagnosed in a newborn after severe hyperkalemia was noted.

전신형 PHA 1은 ENaC의 ${\alpha}$ (SCNN1A), ${\beta}$ (SCNN1B), ${\gamma}$ (SCNN1G) 아단위를 암호화하는 유전자의 변이로 경상피나트륨 수송의 결함으로 발생하게 되며 신생아기에 생명을 위협하는 염분 소실, 고칼륨혈증, 대사성 산증이 발생하게 된다. 또한 신장 뿐 아니라 대장, 침샘, 땀샘 및 호흡기상피 등의 다양한 표적 기간에서 전신적으로 알도스테론에 대한 저항성이 나타난다. 최근 전신형 PHA 1의 임상상과 유전자형 및 이환된 환아들의 장기 추적 결과에 대한 보고가 되고 있으나 질환의 희소성으로 임상 표현형을 설명하기는 어려운 실정이다. 저자들은 사망을 초래할 수 있는 심각한 전해질 이상을 보인 환아에서 PHA를 의심하여 염분 및 양이온 교환수지를 투여하여 효과적으로 전해질 교정이 되어 추적관찰 중이며, 유전자 검사를 통해 missense mutation을 나타낸 전신형 PHA1을 경험하였기에 보고하는 바이다.

Keywords

References

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