Does Dent disease remain an underrecognized cause for young boys with focal glomerulosclerosis?
Focal glomerulosclerosis (FGS) is a histologic entity that causes significant proteinuria in children. Although its etiology varies, recent reports indicated that some young male patients with FGS had underlying Dent disease. We describe the case of a 14-year-old Japanese boy who presented with persistent non-nephrotic range proteinuria, hematuria, and renal insufficiency. The patient was initially diagnosed as having FGS associated with scattered tubulointerstitial fibrosis. Although he had neither nephrocalcinosis nor family history of renal disease including urolithiasis, increased excretion of urinary β2 microglobulin was noted. Genetic analysis for Dent disease indicated a mutation (c.726 + 1G > A) in Chloride Channel, Voltage-Sensitive 5 (CLCN5). Given a recent hypothesis that Dent disease may be underrecognized in children with FGS, a careful diagnostic evaluation for possible underlying Dent disease should be considered in young boys who present with persistent albuminuria associated with high-grade low-molecular-weight proteinuria.
Department of Pediatrics, Hirosaki University Hospital, Hirosaki, Japan.
Kaori
K
Kubo
Department of Pediatrics, Hirosaki University Hospital, Hirosaki, Japan.
Tomomi
T
Aizawa
Department of Pediatrics, Hirosaki University Hospital, Hirosaki, Japan.
Shojiro
S
Watanabe
Department of Pediatrics, Hirosaki University Hospital, Hirosaki, Japan.
Koji
K
Tsugawa
Department of Pediatrics, Hirosaki University Hospital, Hirosaki, Japan.
Kazushi
K
Tsuruga
Department of Pediatrics, Hirosaki University Hospital, Hirosaki, Japan.
Etsuro
E
Ito
Department of School Health Science, Faculty of Education, Hirosaki University, Hirosaki, Japan.
Kensuke
K
Joh
Department of Pediatrics, Hirosaki University Hospital, Hirosaki, Japan.|Department of Pathology, Tohoku University Graduate School of Medicine, Hirosaki, Japan.
Hiroshi
H
Tanaka
D000293:Adolescent; D001707:Biopsy, Needle; D057973:Dent Disease / Q000150:complications* / Q000175:diagnosis; D003937:Diagnosis, Differential; D003951:Diagnostic Errors; D005923:Glomerulosclerosis, Focal Segmental / Q000175:diagnosis / Q000209:etiology*; D006801:Humans; D007678:Kidney Glomerulus / Q000000981:diagnostic imaging*; D008279:Magnetic Resonance Imaging; D008297:Male
Dent disease; focal glomerulosclerosis; low-molecular-weight proteinuria; renal insufficiency