Child Kidney Dis.  2016 Oct;20(2):83-87. 10.3339/jkspn.2016.20.2.83.

A Case of Secondary FSGS due to Chronic Chloride Diarrhea

• Kim BK
• Lee HS
• Yim HE
• Cheong HI
• Yoo KH

• KMID: 2366602
• DOI: http://doi.org/10.3339/jkspn.2016.20.2.83

Abstract

Congenital chloride diarrhea (CLD) is a rare autosomal recessive disease that is difficult to diagnose. CLD requires early treatment to correct electrolyte imbalance and alkalosis and to prevent severe dehydration. Renal injury is clearly associated with defective electrolyte balance induced by CLD, particularly during the first months or years of life. A 7-year-old boy was diagnosed with CLD following detection of a homozygous mutation (c.2063-1G>T) in SLC26A3 at 6 months of age. During treatment with electrolyte supplements, mild proteinuria was detected at 8 months of age, and is still present. Renal biopsy showed the presence of focal renal dysplasia, with metaplastic cartilage and mononuclear cell infiltration, calcification, and fibrosis in the interstitium. Up to two-thirds of the glomeruli exhibited global obsolescence, mostly aggregated in the dysplastic area. In nondysplastic areas, the glomeruli were markedly increased in size and severely hypercellular, with increased mesangial matrix, and displayed segmental sclerosis. The marked glomerular hypertrophy with focal segmental glomerulosclerosis suggested a compensatory reaction to the severe nephron loss or glomerular obsolescence associated with renal dysplasia, with superimposed by CLD aggravating the tubulointerstitial damage.

Keyword

Congenital chloride diarrhea; Renal complication; Focal segmental glomerulosclerosis; Renal dysplasia

MeSH Terms

Alkalosis
Biopsy
Cartilage
Child
Dehydration
Diarrhea*
Fibrosis
Glomerulosclerosis, Focal Segmental
Humans
Hypertrophy
Male
Nephrons
Proteinuria
Sclerosis
Water-Electrolyte Balance