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KMID : 0918520180180030087
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Journal of the Korean Society of Inherited Metabolic Disease
2018 Volume.18 No. 3 p.87 ~ p.94
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A Case of Progressive FSGS and Chronic Kidney Disease in Congenital Chloride Diarrhea with SLC26A3 Mutation
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Seo Young-Jun
Cheong Han-Bin
Ahn Seok-Min
Shin Woo-Chul
Bae Eun-Joo
Yoon Jong-Hyung
Jeong Hwal-Rim
Lee Hong-Jin
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Abstract
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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.
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KEYWORD
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Congenital chloride diarrhea, Focal segmental glomerulonephritis, Chronic kidney disease
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