Objective: To analyze clinical data of 3
children with LMX1B-associated
disease characterized by asymptomatic glomerular
proteinuria , thus improving the recognition of asymptomatic
proteinuria with genetic causes.
Methods: Three
patients with LMX1B-associated
disease presented with prominent asymptomatic
proteinuria diagnosed by the
next-generation sequencing in Department of
Pediatrics ,
Peking University First
Hospital from April 2014 to October 2017 were included in this study.Clinical data, including renal and extrarenal manifestations, renal
biopsy , and
family history , were collected and retrospectively analyzed.
Results: All 3
children were
girls , the
age of onset were 2 years, 1 year, and 4 years, respectively, and the
diagnosis age were 11 years, 5 years and 6 years, respectively.All of them had glomerular
proteinuria , and nephrotic-level
proteinuria occurred in one
patient .Microscopic
hematuria was found in 2
patients .All of them had normal renal function.Only one
patient underwent renal
biopsy .
Electron microscopy of the first
time of
biopsy revealed segmental thinning of the
glomerular basement membrane .Re-
biopsy 4 years later showed irregular thickening of the
glomerular basement membrane ,
moth -eaten appearance and
collagen fibrillar material deposition.No
abnormalities of
nails ,
limbs and
joints were observed by
physical examination .Two
patients had a
family history of renal
disease .
Conclusions: Genetic factors should be considered in
children with obscure onset asymptomatic
proteinuria without definite clinical causes.
Genetic testing can help
diagnose and guide
treatment as early as possible.