Journal of The Korean Society of Inherited Metabolic disease (대한유전성대사질환학회지)

The Korea Society of Inherited Metabolic Disease (대한유전성대사질환학회)
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A Case of Progressive FSGS and Chronic Kidney Disease in Congenital Chloride Diarrhea with SLC26A3 Mutation

선천성 염소성 설사를 가진 환아에서 국소 분절 사구체경화증이 발생하여 만성 신장병으로 발전한 사례

  • Seo, Young-Jun (Department of Pediatrics, Hallym University Chuncheon Sacred Heart Hospital) ;
  • Cheong, Han Bin (Department of Pediatrics, Hallym University Chuncheon Sacred Heart Hospital) ;
  • An, Seok Min (Department of Pediatrics, Hallym University Chuncheon Sacred Heart Hospital) ;
  • Sin, Woo Cheol (Department of Pediatrics, Hallym University Chuncheon Sacred Heart Hospital) ;
  • Bae, Eun Joo (Department of Pediatrics, Hallym University Chuncheon Sacred Heart Hospital) ;
  • Yoon, Jong Hyung (Department of Pediatrics, Hallym University Chuncheon Sacred Heart Hospital) ;
  • Jeong, Hwal Rim (Department of Pediatrics, Hallym University Chuncheon Sacred Heart Hospital) ;
  • Lee, Hong Jin (Department of Pediatrics, Hallym University Chuncheon Sacred Heart Hospital)
  • 서영준 (한림대학교 의과대학 춘천성심병원 소아청소년과) ;
  • 정한빈 (한림대학교 의과대학 춘천성심병원 소아청소년과) ;
  • 안석민 (한림대학교 의과대학 춘천성심병원 소아청소년과) ;
  • 신우철 (한림대학교 의과대학 춘천성심병원 소아청소년과) ;
  • 배은주 (한림대학교 의과대학 춘천성심병원 소아청소년과) ;
  • 윤종형 (한림대학교 의과대학 춘천성심병원 소아청소년과) ;
  • 정활림 (한림대학교 의과대학 춘천성심병원 소아청소년과) ;
  • 이홍진 (한림대학교 의과대학 춘천성심병원 소아청소년과)
  • Published : 2018.12.31
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Abstract

We present the case of long-term observation of a patient with chronic kidney disease (CKD) caused by advanced focal segmental glomerulosclerosis (FSGS) resulting from underlying congenital chloride diarrhea (CLD). A 20-year-old woman was admitted for prolonged proteinuria despite conservative treatment for CLD. She was diagnosed with CLD and started taking KCl salt supplementation from the time of birth. Mild proteinuria was first found at 12 years of age, which progressed to moderate proteinuria at 16 years of age. At 16 years of age, CKD stage 2 with FSGS was diagnosed based on the initial assessment of the glomerular filtration rate (GFR) and kidney histology. On admission, we re-assessed her renal function, histology and genetic analysis. GFR had deteriorated to CKD stage 4 and renal histology revealed an advanced FSGS combined with tubulointerstitial fibrosis. A homozygous mutation in the SLC26A3 gene (c.2063-1G>T) was found by diagnostic exome sequencing and may have been inherited from both parents. CLD patients can be more vulnerable to renal injury, which may also cause progression of renal failure. Therefore, even if there is an early diagnosis and adequate salt supplementation, close monitoring of renal function and tailored treatment should be emphasized for renal protection and favorable CLD prognosis.

선천성 염소성 설사를 가진 환아에서 국소 분절 사구체경화증이 발생하여 말기 신장병으로 발전한 사례를 보고 하고자 한다. 20세 여자 환자로, 본원에서 출생 전 산전진단에서 양수과다 및 초음파 소견으로 선천성 염소성 설사가 의심되었으며, 출생 직후 확진 되어 신생아기 때부터 KCl 보충을 통하여 증상 조절을 시작하였다. 환아는 이후 특별한 건강의 문제가 없었으나 12세에 단백뇨가 관찰되었고, 16세때 본원에서 국소분절 사구체경과증 과 2기 만성신장병 진단을 받았다. 이후 보존적 치료를 하였으며, 지속적인 단백뇨에 대한 재 평가를 위하여 입원하게 되었다. 입원 후 확인된 검사에서 사구체여과율(GFR)은 4기 신장병으로 악화되어 있었으며 신생검에서도 국소분절 사구체신염으로 인한 만성 신장병이 재 확인 되었다. 환아 및 가족을 대상으로 시행한 유전자 검사(diagnostic exome sequencing)에서는 SLC26A3 유전자의(c.2063-1G>T) 동형 접합체 변이가 각각 부모에서 전달된 것을 확인하였다. 선천성 염소성 설사 환자는 적절한 전해질 보충에도 불구하고 신기능 손상이 되기 쉬운 경향이 있으며, 따라서 조기 진단 및 충분한 전해질 보충이 이루어지는 경우에서도 환자의 신장 기능에 대한 정기적 관찰 및 적절한 보조 치료가 필요할 것으로 사료된다.

Keywords

References

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