A Case of Secondary FSGS due to Chronic Chloride Diarrhea.
10.3339/jkspn.2016.20.2.83
- Author:
Byung Kwan KIM
1
;
Hyun Soon LEE
;
Hyung Eun YIM
;
Hae Il CHEONG
;
Kee Hwan YOO
Author Information
1. Department of Pediatrics, Korea University Guro Hospital, Seoul, Korea. guroped@korea.ac.kr
- Publication Type:Case Report
- Keywords:
Congenital chloride diarrhea;
Renal complication;
Focal segmental glomerulosclerosis;
Renal dysplasia
- MeSH:
Alkalosis;
Biopsy;
Cartilage;
Child;
Dehydration;
Diarrhea*;
Fibrosis;
Glomerulosclerosis, Focal Segmental;
Humans;
Hypertrophy;
Male;
Nephrons;
Proteinuria;
Sclerosis;
Water-Electrolyte Balance
- From:Childhood Kidney Diseases
2016;20(2):83-87
- CountryRepublic of Korea
- Language:English
-
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.
