Congenital nephrotic syndrome with diffuse mesangial sclerosis caused by compound heterozygous mutation in LAMA5 gene

AbstractA two-and-a-half-month-old female infant presented with generalized edema for 10  days. At presentation, she had periorbital puffiness, moderate ascites, and pedal edema. Laboratory investigations revealed serum albumin 1.3 g/dL, spot urine protein to creatinine ratio (Up:Uc) 20.87 mg/mg, total cholesterol 380 mg/dL, and serum creatinine 0.31 mg/dL. Exome sequencing reveale d compound heterozygous variants inLAMA5 gene (NM_005560.6). There was a heterozygous likely pathogenic missense variant in exon 2:LAMA5: c.385C  >  A (depth 195 ×) and another heterozygous pathogenic variant in exon 31:LAMA5: c.3932_3936dup; parental segregation by Sanger sequencing proved that the variants were in trans. Kidney biopsy showed diffuse mesangial sclerosis (DMS). Our case addsLAMA5 gene to the constellation of genes causing DMS, in addition to the classically describedWT1,LAMB2, andPLCE1 genes and to the list of genes causing congenital nephrotic syndrome (CNS).
Source: Pediatric Nephrology - Category: Urology & Nephrology Source Type: research