Bartter syndrome (BS) is a clinically and genetically heterogeneous inherited renal tube disorder characterized by renal
salt wasting, hypokalemic metabolic
alkalosis and normotensive hyperreninemic
hyperaldosteronism. There have been several case reports of BS complicated by
focal segmental glomerulosclerosis (FSGS). Here, we have reported the case of a BS patient who developed FSGS and subsequent
end-stage renal disease (
ESRD) and provided a brief literature review. The patient presented with classic BS at 3 months of age and developed
proteinuria at 7 years. Renal biopsy performed at 11 years of age revealed a FSGS perihilar variant.
Hemodialysis was initiated at 11 years of age, and
kidney transplantation was performed at 16 years of age. The post-
transplantation course has been uneventful for more than 3 years with complete disappearance of BS without the recurrence of FSGS. Genetic study revealed a homozygous p.Trp(TGG)610Stop(TGA) mutation in the CLCNKB gene. In summary, BS may be complicated by secondary FSGS due to the adaptive response to chronic
salt-losing nephropathy, and FSGS may progress to
ESRD in some patients.
Renal transplantation in patients with BS and
ESRD results
in complete remission of BS.