mutation associated isolated nephropathy in two siblings from a Chinese pedigree.

BACKGROUD

Coenzyme Q10 (CoQ10) is involved in the biosynthesis of adenosine triphosphate (ATP), and is most abundant in the mitochondrial membrane. The primary CoQ10 deficiency caused by defect is mostly manifested as encephalopathy, encephalopathy with nephropathy, and rarely as an isolated nephrotic syndrome.

METHODS

Clinical and pathological data and peripheral blood samples of 2 siblings with steroid-resistant nephrotic syndrome (SRNS) and their family members of a Chinese pedigree were collected. DNA was extracted and subjected to next-generation sequencing of target genes of hereditary nephropathy.

RESULTS

Compound heterozygous mutations of (c.1058A > G, p.Y353C, paternal and c.973A > G, p.T325A, maternal)were identified in both siblings of the pedigree. Mutation of p.Y353C was novel. The proband was a girl, who presented with SRNS at the age of 7 months. CoQ10 was administered after the gene sequencing results came out. Proteinuria decreased gradually to 1+, occasionally negative. The child was normal in growth and intelligence. She is now 4 years old. The second patient was her elder brother. He was found to have SRNS at the age of 2 years old. Renal pathology indicated focal segmental glomerulosclerosis (FSGS). Electronic microcopy revealed that a large quantity of mitochondria with normal contour was accumulated within the podocytes. Both patients were in normal intelligence without convulsion.

CONCLUSION

The 2 cases harboring compound heterozygous mutations presented with isolated SRNS, with a renal pathology of FSGS and a large quantity of mitochondria with normal contour accumulated within the podocytes. CoQ10 was efficacy in eliminating proteinuria.